Etiology

Many factors appear to be involved in the etiology of CL and CP, and evidence indicates that CL with or without CP is developmentally and genetically different from isolated CP. The majority of cases appear to be consistent with the concept of multifactorial inheritance as evidenced by an increased incidence in relatives and a higher concordance in monozygotic twins than in dizygotic twins. Siblings of children with CL with or without CP have an increased risk of the same anomaly but not of CP alone.

Many recognized syndromes include CL and CP as a feature. Some of these syndromes are a result of chromosomal abnormalities, and environmental factors or teratogens may be responsible for clefts at a critical point in embryonic development. Drugs such as phenytoin, valproic acid, thalidomide, and the pesticide dioxin can cause CL/CP. Maternal nutrition, especially folic acid deficiency, has been linked to clefting in humans, as have maternal alcohol ingestion and smoking during pregnancy. Alcohol consumption, specifically binge drinking (more than five drinks per sitting), increases the risk of having an infant with a cleft (DeRoo, Wilcox, Drevon, et al, 2008). Evidence shows that maternal smoking early in pregnancy is associated with a 1.5- to 2-fold increase in the risk for orofacial clefts, especially isolated clefts, with the risk increasing proportionately with the number of cigarettes smoked (Little, Cardy, and Munger, 2004).

Pathophysiology

Development of the primary and secondary palates takes place at different times and involves different developmental processes. CL, or the primary palate, includes the upper lip and extends through the alveolar ridge. CP, or the secondary palate, starts posterior to the alveolar ridge and extends through the uvula. CL with or without CP results from failure of the maxillary processes to fuse with the nasal elevations on the frontal prominence, which normally occurs during the sixth week of gestation (Fig. 11-15, A). In some cases CP may occur as a result of a rupture of unstable mesoderm layer resulting in a cleft. Merging of the upper lip at the midline is completed between the seventh and eighth weeks of gestation.

Fusion of the secondary palate (hard and soft palates) takes place later in development, between the seventh and twelfth weeks of gestation (Fig. 11-15, B to D). At the time the primary palate is completed, the two lateral palatine processes are situated in a vertical position at the side of the tongue. In the process of migrating to a horizontal position, they are, for a short time, separated by the tongue. With development of the neck and jaws, the tongue moves downward, allowing the palatine processes to fuse with one another and with the primary palate to form the roof of the mouth. If there is delay in this movement, or if the tongue fails to descend soon enough, the remainder of development proceeds but the palate never fuses.

Diagnostic Evaluation

A cleft that involves the lip with or without CP is readily apparent at birth and is a defect that may elicit significant distress in parents.

Palpation of the hard palate and soft palate, submucous palate, and uvula with a gloved finger and visual inspection of the oral cavity and its structures are important parts of the newborn physical examination. (See Chapter 8.) The degree of malformation of the CL or CP can then be evaluated (Figs. 11-16 and 11-17). Clefts of the lip may be unilateral or bilateral, and the extent of the cleft and degree of nasal deformity vary. As with CL, the degree of deformity with CP varies and may involve only the uvula or may extend through both the soft and hard palates. The severity of the CP has an impact on feeding problems; the infant is unable to generate negative pressure and create suction in the oral cavity. This impairs feeding even though in most cases the infant’s ability to swallow is normal.

Therapeutic Management

Treatment of the child with isolated CL is surgical and involves the craniofacial multidisciplinary team. Depending on the severity of the CL, the team may include the surgeon, dentist or orthodontist, speech-language pathologist, nurse, and social worker. Management of CP also involves the cooperative efforts of a multidisciplinary health care team, including pediatrics, plastic surgery, orthodontics, otolaryngology, speech and language pathology, audiology, nursing, and social work. Treatment continues over a long time, but, even after completion of a program of health care, the child may retain defects of speech, facial appearance, and other problems related to the cleft. Management of both defects is directed toward surgical closure of the cleft, prevention of complications, and facilitation of normal growth and development of the child.

Nursing Care Management

The immediate nursing problems in the care of an infant with CL and CP deformities are related to feeding the infant and dealing with the parental reaction to the defect. Facial deformities are particularly disturbing to parents. CL, especially, is a disfiguring, visible defect that may generate a strong negative response in parents. During the initial phase after birth of an infant with CL or CP, it is important for the nurse to address not only the infant’s physical needs but also the parents’ emotional needs.

The nurse should encourage expression of parental grief and fears. Such expression may promote attachment in the preoperative period. It is especially important to emphasize the positive aspects of the infant’s physical appearance and to express optimism regarding surgical correction while acknowledging the parents’ concern. The manner of handling the infant should convey to the parents that the infant is indeed a precious human being. (See Birth of a Child with a Physical Defect, p. 391.)

Pathophysiology

The esophagus develops from the first segment of the embryonic gut. During the fourth and fifth weeks of gestation, the foregut normally lengthens and separates longitudinally. Each longitudinal portion fuses to form two parallel channels (the esophagus and the trachea) that are joined only at the larynx. Anomalies involving the trachea and esophagus are caused by defective separation, incomplete fusion of the tracheal folds after this separation, or altered cellular growth during embryonic development.

The most commonly encountered form of EA and TEF (80% to 90% of cases) is one in which the proximal esophageal segment terminates in a blind pouch and the distal segment is connected to the trachea or primary bronchus by a short fistula at or near the tracheal bifurcation (Fig. 11-19, C). The second most common type (7% to 8%), or “pure EA,” consists of a blind pouch at each end, widely separated and with no communication to the trachea (Fig. 11-19, A). An H-type EA refers to an otherwise normal trachea and esophagus connected by a fistula (4% to 5%) (Fig. 11-19, E). Extremely rare anomalies involve a fistula from the trachea to the upper esophageal segment (0.8%) (Fig. 11-19, B) or to both the upper and lower segments (0.7% to 6%) (Fig. 11-19, D).

Clinical Manifestations

The presence of EA is suspected in a newborn with frothy saliva in the mouth and nose, drooling, choking, and coughing. Respiratory distress may be mild or significant, depending on the type of defect and the infant’s gestational age. If fed, the infant may swallow normally but suddenly cough and gag, with return of fluid through the nose and mouth. The infant may become cyanotic and apneic because of aspiration of formula or saliva.

In the infant who has EA with a distal TEF (type C), the stomach becomes distended with air, and thoracic and abdominal compression (especially during crying) cause the gastric contents to be regurgitated through the fistula and into the trachea, producing a chemical pneumonitis. When the upper segment of the esophagus opens directly into the trachea (types B and D), the infant is in danger of aspirating any swallowed material. Cyanosis or choking during feeding may be the only symptom of type E fistula (see Fig. 11-19). The child with this H type of EA may not manifest symptoms until later in life when he or she shows signs of chronic respiratory problems, recurrent pneumonia, and signs of gastroesophageal reflux (Orenstein, Peters, Khan, et al, 2007).

Diagnostic Evaluation

In a newborn who has symptoms suggestive of EA/TEF, an attempt is made to pass an NG-orogastric (OG) catheter into the esophagus. Inability to pass the catheter warrants further evaluation.

Although the diagnosis is established on the basis of clinical signs and symptoms, the exact type of anomaly is determined by radiographic studies. A radiopaque catheter is inserted into the hypopharynx and advanced until it encounters an obstruction. Chest films are taken to ascertain esophageal patency or the presence and level of a blind pouch. Films that show air in the stomach indicate a connection between the trachea and the distal esophagus in types C, D, and E. Complete absence of air in the stomach is seen in types A and B. Occasionally, fistulas are not patent, which makes their presence more difficult to diagnose. A careful bronchoscopic examination may be performed in an attempt to visualize the fistula.

The presence of polyhydramnios (accumulation of >2000 ml of amniotic fluid) prenatally is a clue to the possibility of EA in the unborn infant, especially with defect type A, B, or C. With these types of EA/TEF, amniotic fluid normally swallowed by the fetus is unable to reach the GI tract to be absorbed and excreted by the kidneys. The result is an abnormal accumulation of amniotic fluid, or polyhydramnios.

Therapeutic Management

The treatment of EA and TEF includes maintenance of a patent airway, prevention of pneumonia, gastric or blind pouch decompression, supportive therapy, and surgical repair of the anomaly.

When EA with a TEF is suspected, the infant is immediately deprived of oral intake, IV fluids are initiated, and the infant is positioned to facilitate drainage of secretions and decrease the likelihood of aspiration. Accumulated secretions are suctioned frequently from the mouth and pharynx. A double-lumen catheter should be placed into the upper esophageal pouch and attached to intermittent or continuous low suction. The infant’s head is kept upright to facilitate removal of fluid collected in the pouch and to prevent aspiration of gastric contents. Broad-spectrum antibiotic therapy is often instituted if there is a concern about aspiration of gastric contents.

Nursing Care Management

The nursing process in the care of the infant with EA/TEF is described in the Nursing Care Plan on pp. 438-439.

Nursing responsibility for detection of this serious malformation begins immediately after birth. For the infant with the classic signs and symptoms of EA (see Clinical Manifestations, p. 435) the major concern is the establishment of a patent airway and prevention of further respiratory compromise. Cyanosis is usually a result of laryngeal spasm caused by overflow of saliva into the larynx from the proximal esophageal pouch or aspiration; it normally resolves after removal of the secretions from the oropharynx by suctioning. The passage of a small-gauge OG feeding tube via the mouth into the stomach during the initial nursing physical assessment is helpful to rule out EA or other obstructive defects. Additional stabilization and nursing care are discussed in the next section.

Pathophysiology

During embryonic development the cloaca becomes the common channel for the developing urinary, genital, and rectal systems. The cloaca is divided at the sixth week of gestation into an anterior urogenital sinus and a posterior intestinal channel by the urorectal septum. After the lateral folds join the urorectal septum, separation of the urinary and rectal segments takes place. Further differentiation results in the anterior GU system and the posterior anorectal channel. An interruption of this development leads to incomplete migration of the rectum to its normal perineal position.

Diagnostic Evaluation

The diagnosis of an anorectal malformation is based on the physical finding of an absent anal opening. Other symptoms may include abdominal distention, vomiting, absence of meconium passage, or presence of meconium in the urine. Additional physical findings with an anorectal malformation are a flat perineum and the absence of a midline intergluteal groove. The appearance of the perineum alone does not accurately predict the extent of the defect and associated anomalies. GU and spinal-vertebral anomalies associated with anorectal malformations should be considered when an anomaly is noted. EA with or without TEF, cardiac defects, and spinal or vertebral anomalies may occur in association with anorectal malformations, and the infant should be carefully evaluated for the presence of these and other anomalies.

A perineal fistula (see Box 11-7) may be diagnosed by clinical observation. The presence of a prominent anal dimple and a band of skin tissue commonly known as a bucket handle is indicative of a perineal fistula (Levitt and Peña, 2007). Abdominal and pelvic ultrasonography is performed to further evaluate the infant’s anatomic malformation. An IV pyelogram and a voiding cystourethrogram (VCUG) are performed to evaluate associated anomalies involving the urinary tract. Other diagnostic examinations that may be performed include a pelvic MRI, radiography, ultrasound, and fluoroscopic examination of pelvic anatomic contents and lower spinal anatomy.

Therapeutic Management

The primary management of anorectal malformations is surgical. Once the defect is identified, take steps to rule out associated life-threatening defects, which need immediate surgical intervention. Provided no immediate life-threatening problems exist, the newborn is stabilized and kept NPO for further evaluation. IV fluids are provided to maintain glucose and fluid and electrolyte balance. Current recommendation is that surgery be delayed at least 24 hours to properly evaluate for the presence of a fistula and possibly other anomalies (Levitt and Peña, 2007).

The surgical treatment of anorectal malformations varies according to the defect but usually involves one, or possibly a combination of several, of the following procedures: anoplasty, colostomy, posterior sagittal anorectoplasty (PSARP) or other pull-through with colostomy, and colostomy (take-down) closure. The Nursing Care Management discussion below outlines some aspects of preoperative and postoperative care.

A primary laparoscopic repair (without colostomy) of some anorectal malformations is being performed successfully in some centers. This minimizes surgical risks, associated morbidity, and postoperative pain management.

Nursing Care Management

The first nursing responsibility is assisting in identification of anorectal malformations. A newborn who does not pass stool within 24 hours after birth or has meconium that appears at a location other than the anal opening requires further assessment. Preoperative care includes diagnostic evaluation, GI decompression, bowel preparation, and IV fluids.

For the newborn with a perineal fistula, an anoplasty is performed, which involves moving the fistula opening to the center of the sphincter and enlarging the rectal opening. Postoperative nursing care after anoplasty is primarily directed toward healing the surgical site without other complications. A program of anal dilations is usually initiated when the child returns for the 2-week check-up. Feedings are started soon after surgical repair, and breast-feeding is encouraged because it causes less constipation.

In neonates with anomalies such as cloaca (female), rectourethral prostatic fistula (male), and vestibular fistula (female), a descending colostomy is performed to allow fecal elimination and avoid fecal contamination of the distal imperforate section and subsequent urinary tract infection in infants with urorectal fistulas. With a colostomy, postoperative nursing care is directed toward maintaining appropriate skin care at the stoma sites (both distal and proximal), managing postoperative pain, and administering IV fluids and antibiotics. Postoperative NG decompression may be required with laparotomy, and nursing care focuses on maintenance of appropriate drainage. (See Chapter 27 for colostomy care.)

The PSARP is a common surgical procedure for the repair of anorectal malformations in infants approximately 1 to 2 months after the initial colostomy. Preoperative PSARP care often involves irrigation of the distal stoma to prevent fecal contamination of the operative site. During this time parents must be given accurate yet simple information regarding the infant’s appearance postoperatively and expectations as to their level of involvement in the child’s care.

In the PSARP procedure the repair is made via a posterior midline sacral approach to dissect the different muscle groups involved without damaging strategic innervation of pelvic structures, so that optimum postoperative bowel continence is achieved. A laparotomy may be required if the rectum is unidentifiable by the posterior approach. Additional management after successful repair involves a program of anal dilations, colostomy closure, and a bowel management program.

Parents are instructed in perineal and wound care or care of the colostomy as needed. Anal dilations may be necessary for some infants. Parents should observe stooling patterns and observe for signs of anal stricture or complications. Information on dietary modifications and administration of medications is included in counseling. Nurses have a vital role in helping families of a child with anorectal malformations provide optimum care so that bowel management is successful and quality of life enhanced for the child and family.

Pathophysiology

The exact cause of biliary atresia is unknown, although immune mechanisms or viral injury may be responsible for the progressive process that results in complete obliteration of the bile ducts. Biliary atresia is not seen in the fetus or stillborn or newborn infant. This suggests that biliary atresia is acquired late in gestation or in the perinatal period and is manifested a few weeks after birth. Congenital infections such as cytomegalovirus, rubella virus, Epstein-Barr virus, rotavirus, and reovirus type 3 have been implicated as a cause of hepatocellular damage leading to biliary atresia, yet no specific agent is identified in every case. Immune-mediated bile duct injury from viral exposure and immaturity of the neonatal immune system may play a role in the destruction of bile ducts and development of EHBA. Other potential causes include an early first trimester insult to the developing bile ducts or a postnatal viral insult; genetic factors may also play a role in the pathogenesis (Davenport, 2005). Early in the course of the disease, the intrahepatic ducts are patent from the interlobular ductules to the porta hepatis. The size of these structures is variable and is correlated with the infant’s age and with bile excretion after surgical treatment. These structures are present in most affected infants under 2 months of age but gradually disappear over the next few months and by 4 months are completely replaced by fibrous tissue.

The degree of involvement of the extrahepatic biliary ducts is also variable. Most commonly the entire extrahepatic system is involved in the obliterative process, but some infants have a patent proximal portion of the extrahepatic duct or patency of the gallbladder, cystic duct, and common bile duct. Microscopic examination of the liver tissue reveals cholestasis with absent or diminished bile duct proliferation and fibrosis.

Clinical Manifestations

Many infants with biliary atresia are full term and appear healthy at birth. If jaundice persists beyond 2 weeks of age, especially if the direct (conjugated) serum bilirubin is elevated, the nurse should suspect biliary atresia. The urine may be dark, and the stools often become progressively acholic or gray, indicating absence of bile pigment. Hepatomegaly is present early in the course of the disease, and the liver is firm on palpation.

Diagnostic Evaluation

Early diagnosis is critical to the child with EHBA; the outcome in children surgically treated before 2 months of age is much better than in patients with delayed treatment. The diagnosis of biliary atresia is suspected on the basis of the history, physical findings, and laboratory studies. Laboratory tests include a complete blood count, serum bilirubin levels, and liver function studies. Additional laboratory analyses, including α₁-antitrypsin level, TORCH titers and other intrauterine infections (see p. 380), hepatitis serology, and urine cytomegalovirus, may be indicated to rule out other conditions that cause cholestasis and jaundice. An abdominal ultrasound is usually performed to identify potential causes of extrahepatic obstruction, such as a choledochal cyst. The patency of the extrahepatic biliary system will be demonstrated by a nuclear scintiscan using technetium 99m iminodiacetic acid (^99mTc-IDA, or HIDA; HIDA scan). If there is no evidence of radioactive material excreted into the duodenum, biliary atresia is the most probable diagnosis. A percutaneous liver biopsy is probably the most useful method of diagnosing biliary atresia. The definitive diagnosis is further established during an exploratory laparotomy and an intraoperative cholangiogram that demonstrates complete obstruction at some level of the biliary tree.

Therapeutic Management

Medical management of biliary atresia is primarily supportive. It includes nutritional support with infant formulas that contain medium-chain triglycerides and essential fatty acids. Supplementation with fat-soluble vitamins (A, D, E, K); a multivitamin; and minerals, including iron, zinc, and selenium, is usually required. Aggressive nutritional support in the form of continuous gastrostomy feedings or total parenteral nutrition may be indicated for moderate to severe growth failure; the enteral solution should be low in sodium. Phenobarbital may be prescribed after hepatic portoenterostomy to stimulate bile flow, and ursodeoxycholic acid may be used to decrease cholestasis and the intense pruritus from jaundice. In cases of advanced liver dysfunction, management is the same as in infants with cirrhosis. (See Chapter 33.)

The primary surgical treatment of biliary atresia is hepatic portoenterostomy (Kasai procedure). This surgical procedure involves dissection of the porta hepatis to expose an area through which bile may drain (Fig. 11-22). A Roux-en-Y jejunal limb is then anastomosed to the porta hepatis (a Y-shaped anastomosis performed to provide bile drainage without reflux). This procedure has several variations. In approximately 90% of infants with biliary atresia who are operated on when younger than 8 weeks of age, bile drainage is achieved. Complications after portoenterostomy include ascending cholangitis, cirrhosis, portal hypertension, and GI bleeding. Prophylactic antibiotics are given after the Kasai procedure to minimize the risk of ascending cholangitis.

After the Kasai procedure approximately one third of infants become jaundice free and regain normal liver function. Another one third of infants demonstrate liver damage; however, they may be supported by medical and nutritional interventions. A final third require liver transplantation. Liver transplantation is required for children who cannot regain bile flow and for those with end-stage liver disease or severe portal hypertension. Complications after liver transplantation include obstruction and bile leaks at the biliary anastomosis, portal hypertension, hemorrhage, infection, and rejection. Immunosuppressive drugs are required after transplantation.

Nursing Care Management

There are many important nursing interventions for the child with biliary atresia. The nurse should educate family members regarding all aspects of the treatment plan and the rationale for therapy. Immediately after a hepatic portoenterostomy, nursing care is similar to that following any major abdominal surgery. If an interrupted jejunal conduit has been performed, the family needs to learn how to care for the two stomas and how to refeed the bile after feedings. Teaching includes the proper administration of medications. Administration of nutritional therapy, including special formulas, vitamin and mineral supplements, gastrostomy feedings, or parenteral nutrition, is an essential nursing responsibility. Growth failure in such infants is common, and increased metabolic needs combined with ascites, pruritus, and nutritional anorexia constitute a challenge for care. The nurse teaches caregivers how to monitor and administer nutritional therapy in the home. Pruritus may be a significant problem that is addressed by drug therapy or comfort measures such as baths in colloidal oatmeal compounds and trimming of fingernails. The risk of complications of biliary atresia, such as cholangitis, portal hypertension, GI bleeding, and ascites, should be explained to the caregivers.

These children and their families require special psychosocial support. The uncertain prognosis, discomfort, and waiting for transplantation can produce considerable stress. (See Cirrhosis, Chapter 33.) In addition, extended hospitalizations, as well as pharmacologic and nutritional therapy, can impose significant financial burdens on the family, as with any chronic condition. The expertise of a multidisciplinary health care team, including surgeons, gastroenterologists, pediatricians, nurses, nutritionists, pharmacists, child life specialists, and social workers, is often necessary. Parent support groups can be beneficial as well. The Children’s Liver Association for Support Services* and the American Liver Foundation† provide educational materials, programs, and support systems for parents of children with liver disease.

Omphalocele

Omphalocele is related to a true failure of embryonic development. It occurs when there is failure of the caudal or lateral infolding of the abdominal wall at approximately the third week of gestation. With the deficiency in the abdominal wall, the bowel is unable to complete its return to the abdomen between the tenth and twelfth week of gestation.

The omphalocele is usually covered only by a translucent peritoneal sac (Fig. 11-23). The sac may contain only a small portion of the bowel or most of the bowel and other abdominal viscera, such as the liver. If the sac ruptures, the abdominal contents become exposed. Omphalocele often is associated with other anomalies (50% to 70% incidence of anomalies), including cardiac, neurologic, skeletal, and GU anomalies; imperforate anus; ileal atresia; and bladder exstrophy. Omphalocele is also associated with trisomies 13, 18, and 21 (Down syndrome) and with advanced maternal age (>30 years) (Ledbetter, 2006).

A small omphalocele may go undetected at first glance and appear as a bulge in the umbilical cord. It is therefore imperative to inspect an unusually large umbilical cord for omphalocele before clamping to prevent possible damage to bowel tissue (Donlon, Furdon, and Clark, 2002). (See Care of the Umbilicus, Chapter 8.)

With the increasing frequency of and improvements in prenatal ultrasonography, some abdominal wall defects are being diagnosed prenatally. The benefits of prenatal ultrasonographic diagnosis include the ability to transfer the mother to a tertiary care center, where pediatric surgeons and a neonatal intensive care unit are available to assist with care after delivery.

Initial management after delivery includes inspection of the defect and any associated anomalies. If the bowel covering is intact, a nonadherent dressing is placed over the defect to prevent injury; if the bowel is exposed, the exposed abdominal contents and membranes are covered with a bowel bag or moist dressings and a plastic drape to prevent excessive fluid loss, drying, and temperature instability. IV fluids and antibiotics are administered, and a further evaluation for other associated anomalies is completed. Placement of a Silastic double-lumen catheter (NG-OG) is performed to accomplish gastric bowel decompression.

After initial medical management and stabilization, several surgical options may be carried out depending on the size of the defect, associated medical problems, and surgeon preference. Primary closure of the omphalocele is one option if the defect is small. The sac is resected, contents are reduced into the abdominal cavity, and an attempt is made to close the abdominal fascia with sutures. The abdominal wall may need to be stretched. If an intestinal atresia exists, a bowel resection may be performed, possibly involving a diverting stoma.

When primary closure of the defect is not possible because of the small size of the abdominal cavity or an extremely large omphalocele, staged reduction is accomplished. A silo mesh may be used to house the omphalocele. The silo may be suspended vertically using mild tension. An antibacterial ointment is applied to the silo and suture lines to prevent local infection. Usually the silo is compressed on a daily basis. Once the abdominal cavity is able to accommodate the viscera, the silo is removed and the defect is closed. Every effort is made to accomplish this within 7 to 10 days to minimize the risk of infection. Alternatively some surgeons treat the omphalocele sac with silver sulfadiazine over the ensuing weeks or months until epithelial tissue forms. Repair may occur as late as 1 year if the defect is large (Islam, 2008; Ledbetter, 2006). Another approach involves closure with skin flaps from the lateral abdominal wall.

Postoperatively these infants may require mechanical ventilation and parenteral nutrition. Intraabdominal compression may prevent effective respiration and restrict blood flow to the lower extremities and abdominal organs. Feedings may resume once adequate bowel function is established. Postoperative complications involve many of those discussed below with omphalocele but also include infection, evisceration, intestinal volvulus, obstruction, and a ventral hernia.

Gastroschisis

Gastroschisis occurs when the bowel herniates through a defect in the abdominal wall to the right of the umbilical cord and through the rectus muscle (Fig. 11-24). There is no membrane covering the exposed bowel. Controversy exists regarding the etiology of gastroschisis. It has been suggested that at some point between the bowel’s stay in the umbilical cord and the completion of fixation, a tear occurs at the base of the umbilical cord, allowing the intestine to herniate. The gap between the cord and the tear is filled in by skin, giving the appearance of a defect in the abdominal wall to the right of the umbilical cord. The base of the defect is narrow, and the lack of membranes results in thickening and foreshortening of the bowel. Gastroschisis is usually not associated with other major congenital anomalies (incidence of 10% to 20%); however, jejunoileal atresia, ischemic enteritis, and malrotation may occur as a result of the defect itself. Cryptorchidism in association with gastroschisis has also been reported to range from 24% to 55% (Williams, Butler, and Sundem, 2003). A teratogenic etiology (young maternal age, smoking, alcohol use, acetaminophen, aspirin, and pseudoephedrine) has been suggested as a possible contributor to this defect, as have environmental influences in certain cases (Ledbetter, 2006).

Initial management involves covering the exposed bowel with a transparent plastic bowel bag or loose, moist dressings. If the opening in the abdominal cavity through which bowel is protruding is small and strangulation of bowel is possible, the abdominal opening is enlarged at the bedside. IV fluids and antibiotics are administered, and a double-lumen NG tube is inserted for bowel decompression. Fluid replacement for gastroschisis is increased twofold to threefold because of large losses from the exposed viscera.

Adequate thermoregulation and fluid management are extremely important for both omphalocele and gastroschisis. During surgery the abdominal wall is stretched and the mass of bowel is replaced in the abdomen. If primary closure is not possible, a prefabricated, spring-loaded Silastic silo is placed over the unprotected bowel in labor and delivery or in the neonatal intensive care unit shortly after birth to protect the bowel and decrease fluid loss; primary surgical closure is attempted at a later date. The silo is reduced over several days, at which time it is removed surgically and the defect is closed.

Infants with gastroschisis have traditionally been operated on within 24 hours of birth because of temperature instability, risk of infection in the unprotected bowel, and fluid loss. Studies have shown that outcomes vary in regards to early surgical closure versus silo management and later surgical closure; some outcomes are heavily dependent on the amount of bowel to be replaced into the abdominal cavity and subsequent intraabdominal pressure with primary closure. However, the optimal time for closure has yet to be determined (Islam, 2008).

Postoperatively most infants require mechanical ventilation because of respiratory distress secondary to increased abdominal pressure. Pain management is imperative, especially in the first 72 hours. Morphine and fentanyl are effective opioid analgesics. Many infants also require prolonged nutritional support (parenteral and enteral) because of poor bowel function. Prolonged parenteral nutrition may cause liver failure. Exposure of the bowel to amniotic fluid in utero predisposes the infant to prolonged paralytic ileus and hypomotility. Other complications include infection, transient renal impairment, intestinal obstruction, vena cava compression, and a subsequent decrease in blood flow to the lower extremities.

Prognosis

Advanced surgical techniques, improved parenteral nutrition delivery systems, and better medical management have improved the prognosis for the newborn with an abdominal wall defect. Survival estimates for infants with gastroschisis range from 90% to 95% (Islam, 2008; Ledbetter, 2006). Survival rates for infants with an isolated omphalocele are reported to be 75% to 95% (Heider, Strauss, and Kuller, 2004; McNair, Hawes, and Urquhart, 2006). Because many newborns with omphalocele often have serious associated congenital anomalies, especially cardiac anomalies (40% to 50%), the prognosis for survival of such infants is often not as predictable or as positive as it is for those with gastroschisis (Ledbetter, 2006).

Nursing Care Management

Nursing care is similar to that for any high-risk infant. Infection is a constant threat before surgery, and careful positioning and handling are necessary to prevent rupture of the omphalocele sac or herniated bowel, or disturbance of the Silastic material used for gradual silo reduction. Viscera should be protected with moist dressings or a silo as described previously. Heat and fluid loss from the exposed viscera are major concerns in the preoperative period. Therefore thermoregulation and attention to adequate fluid volume are critical. Fluid replacement is vital and must compensate for losses. The GI tract is decompressed via an NG tube before surgery to aid in bowel reduction.

Postoperative care includes monitoring for signs of complications and assessment of bowel function; pain management with an opioid is also important in the recovery of the infant. Parenteral nutritional support may be necessary when ileus persists. It may require several days or weeks for normal bowel function to return and before full feedings can be achieved. Infants with a prolonged bowel recovery phase are prime candidates for the development of feeding resistance (see Feeding Resistance, Chapter 10); therefore consultation with a feeding specialist in the early postoperative period is recommended to enhance feeding success. Associated long-term problems with gastroschisis include bowel adhesions, bowel obstruction, necrotizing enterocolitis, and moderate to sometimes severe gastroesophageal reflux (Ledbetter, 2006).

Clinical Manifestations

The most common manifestation of CDH is acute respiratory distress in the newborn. Entrance of air into the intestines after birth further compromises respiration. Infants with a CDH may be dyspneic and cyanotic and have a scaphoid abdomen (because of abdominal contents in the chest). Cardiac output is impaired, and the infant exhibits signs and symptoms of shock. Some infants with small defects may not exhibit respiratory symptoms until later in infancy.

Diagnostic Evaluation

Prenatal diagnosis of CDH as early as the twenty-fifth week of gestation is possible. The three main features detected by ultrasonography that confirm the diagnosis are polyhydramnios, mediastinal shift, and loops of bowel in the chest cavity. In severe cases fetal hydrops is evident. Low MS-AFP levels are seen in cases of CDH; however, the finding is not specific for this anomaly.

Antenatal diagnosis of CDH is reported to have the following advantages: (1) counseling the family regarding pregnancy alternatives and potential problems of the neonatal period; (2) continuation of the pregnancy and further management, including possible antenatal treatment; and (3) transport of the fetus with a CDH in utero to a tertiary center for management. A multidisciplinary team of neonatologists, neonatal nurses, and pediatric surgeons can intervene early in the acute phase to improve the infant’s chances for survival and a positive outcome.

After birth, the diagnosis of CDH may depend on the type of hernia present. In the majority of cases the diagnosis is suspected on the basis of the clinical manifestations and is confirmed by a chest radiograph. The chest radiograph shows fluid- and air-filled loops of intestine in the affected side of the chest. The mediastinum may be shifted to the unaffected side, and auscultation may reveal decreased breath sounds on the affected side.

Therapeutic Management

Nursing Care Management

Assessment of the infant at birth is an integral component of nursing care. This is accentuated in life-threatening cases such as CDH, where prompt recognition of neonatal respiratory distress, cyanosis, a scaphoid abdomen, and a possible mediastinal shift would alert the nurse to investigate further. Any one or a combination of these signs may signal the presence of CDH. A newborn in respiratory distress at birth who does not initially respond to resuscitation is further evaluated for CDH; endotracheal intubation is an option for providing adequate oxygenation until CDH is ruled out. If CDH is diagnosed prenatally and the infant is in distress, endotracheal intubation is required to prevent further accumulation of air in the stomach and intestines and subsequent respiratory compromise.

Preoperative care involves prompt recognition, resuscitation, and stabilization of the infant, including ventilatory support, blood gas monitoring, fluid volume maintenance, and administration of IV fluids and electrolytes. Gastric decompression is achieved with a double-lumen tube, and the infant is observed for signs of impaired cardiac output, acidosis, and hypoxemia.

Postoperative care includes the routine observations discussed in the care of the high-risk infant. Close observation to detect signs of respiratory distress or fluid and electrolyte imbalances is an important nursing function. Closely monitor the infant for signs of mediastinal shift, pulmonary air leak, and infection. Hypovolemia as a result of third spacing of intravascular fluids may occur. Also pay attention to skin care, since these infants often experience prolonged sedation, an increase in skin moisture, tubes and drains coming in contact with the skin, altered nutrition, and altered hemodynamics, all of which place the infant at risk for skin breakdown. Pain management and developmental needs must be met in addition to lifesaving therapy to ensure the infant has optimal development.

Nursing care of the infant with a CDH is also aimed at reducing stimulation either from care activities such as routine suctioning or from environmental factors such as noise and light. Measures that further reduce infant stress, such as management of pain, should be a routine aspect of care for the infant with a CDH.

Because of the serious nature of the condition and the urgency of treatment, the parents are in great need of ongoing support and education regarding postoperative care. The infant with a CDH may require long-term hospitalization and care. As soon as medically possible, the parents should be involved in the daily care of their child.

Nursing Care Management

The appearance of an umbilical hernia may be disconcerting to parents. Therefore they need reassurance that the defect usually is not harmful. Taping or strapping the abdomen to flatten the protrusion does not aid in resolution and can produce skin irritation.

Nursing care of the child with an umbilical hernia repair is essentially the same as that for other minor GI surgery. The procedure may be performed on an outpatient basis. Observe the child for complications related to a hematoma or infection. The child may resume a normal diet and activity postoperatively; however, strenuous activity or play is restricted for 2 to 3 weeks.

Pathophysiology

Inguinal hernia comes from persistence of all or part of the processus vaginalis, the tube of peritoneum that precedes the testicle through the inguinal canal into the scrotum (in boys), or the round ligament into the labia (in girls), during the eighth month of gestation. After descent of the testicle, the proximal portion of the processus vaginalis normally atrophies and closes, whereas the distal portion forms the tunica vaginalis, which envelops the testicle in the scrotum. When the upper portion fails to atrophy, the abdominal fluid or an abdominal structure (bowel, ovary, Fallopian tubes) can be forced into it, creating a palpable bulge or mass. The persistent sac may end at any point along the inguinal canal; it may stop at the inguinal ring or extend all the way into the scrotum or labia (Fig. 11-27).

Clinical Manifestations

This common defect is asymptomatic unless the abdominal contents are forced into the patent sac. Most often it appears as a painless inguinal swelling that varies in size. It disappears during periods of rest or is reducible by gentle compression. It appears when the infant cries or strains or when the older child strains, coughs, or stands for a long time. The defect can be palpated as a thickening of the cord in the groin, and the silk glove sign can be elicited by rubbing together the sides of the empty hernial sac.

Sometimes the herniated loop of intestine becomes partially obstructed, producing variable symptoms that may include irritability, tenderness, anorexia, abdominal distention, and difficulty defecating. Occasionally the loop of bowel becomes incarcerated (irreducible), with symptoms of complete intestinal obstruction that, left untreated, will progress to strangulation and necrotic bowel. Incarceration occurs more often in infants under 10 months of age.

Therapeutic Management

The treatment for hernias is prompt, elective surgical repair in the healthy child as soon as the defect is diagnosed. However, an incarcerated hernia requires emergent surgical care. Because there was believed to be a significant incidence of bilateral involvement, many surgeons advocated exploration of both sides; however, this practice has gained disfavor due to complications occurring with open exploration and is seldom used (Brandt, 2008). Laparoscopic exploration of the contralateral side may be performed without risk of injury to the vas deferens (Brandt, 2008).

Nursing Care Management

Prompt recognition of an inguinal hernia is imperative. The hernia may first be noticed when the infant is crying or straining to stool (Valsalva maneuver). Nursing care of the infant or child with an inguinal hernia involves preoperative preparation of the infant and appropriate explanation to the parents of the child’s expected postoperative status. Most hernia repairs can be managed on an outpatient basis. The preterm infant usually has hernia repair several days before discharge. The former preterm infant diagnosed after discharge is admitted the day of surgery and, after repair, is observed for 12 to 24 hours for apnea and bradycardia.

Postoperatively the incision is kept clean and dry, and the infant’s pain is managed appropriately. In infants and small children who are not yet toilet trained, the wound may be covered with an occlusive dressing or left without a dressing. Changing diapers as soon as they become damp helps reduce the chance of irritation or infection of the incision.

No restrictions are placed on the infant’s or toddler’s activity, but older children are cautioned against lifting, pushing, wrestling or fighting, bicycle riding, and athletics for about 3 weeks.

If surgery is postponed, parents need to learn the signs of incarcerated hernia, simple measures to reduce it (a warm bath, avoidance of upright positioning, and comfort measures to reduce crying), and where to call for assistance if relief is not obtained in a reasonably short time.

Nursing Care Management

Proper hygiene of the phimotic foreskin in infants and young boys consists of external cleansing during routine bathing. The foreskin should not be forcibly retracted, since it may create scarring that can prevent future retraction. Furthermore, retraction of the tight foreskin can result in paraphimosis, a condition in which the retracted foreskin cannot be replaced in its normal position over the glans. This causes edema and venous congestion created by constriction by the tight band of foreskin—a urologic emergency that requires immediate evaluation.

Nursing Care Management

The nursing care of the infant with a hydrocele is essentially the same as that for inguinal hernia. Advise parents that there is often temporary swelling and discoloration of the scrotum that resolves spontaneously.

Abdominal—Proximal to the internal inguinal ring

Canalicular—Between the internal and external inguinal rings

Ectopic—Outside the normal pathways of descent between the abdominal cavity and the scrotum

Pathophysiology

Testicular development is influenced by a number of genes, but the dominant one is located on the Y chromosome. This gene stimulates the medullary sex cords of the embryonic gonad to differentiate into secretory Sertoli cells. Beginning around week 7, these cells secrete a glycoprotein, müllerian inhibiting substance, that leads to development of a male genital system. Testicular descent is a critical element of the development of the male genital system. This descent occurs in two phases; the first is dominated by müllerian inhibiting substance and the second phase by testosterone. Between weeks 8 and 15 a cordlike structure, the gubernaculum, extends from the developing testis (located in the lower abdomen) to the labioscrotal swelling. The fetus grows, but the length of this gubernaculum remains relatively fixed, anchoring the testis to the developing inguinal canal (transabdominal migration) in preparation for the second phase of descent. This second phase begins around weeks 25 to 30 and is characterized by shrinkage of the gubernaculum under the influence of testosterone, causing the testis to migrate down the inguinal canal and into a scrotal position (transinguinal migration). Descent is also characterized by protrusion of peritoneum, the processus vaginalis, that closes before birth.

Cryptorchidism occurs when one or both testes fail to descend through the inguinal canal and into the scrotum. Several processes may slow or arrest testicular descent, including endocrinologic abnormalities affecting the hypothalamic-pituitary-testicular axis, denervation of the genitofemoral nerve, traction of the gubernaculum, abnormal development of the epididymis, or preterm birth. Cryptorchid testes are often accompanied by congenital hernias and abnormal testes, and they are at risk for subsequent torsion.

An ectopic testis emerges outside the inguinal ring into the perineum or femoral area, or lies in a transverse scrotal or prepenile location. The most common site is the superficial inguinal pouch. Ectopia is postulated to occur because of obstruction of the scrotal inlet, scarring (fibrosis) of the gubernaculum, or other mechanical anomalies.

Anorchism is the complete absence of a testis. Anorchism is suspected whenever one or both testes cannot be palpated in the patient with apparent cryptorchidism. In some cases, bilateral anorchism is associated with genotypic and phenotypic abnormalities, but it is commonly associated with a normal karyotype (46,XY) and normal genital development. This observation supports the hypothesis that, in most cases, anorchism represents degeneration rather than agenesis of the testes (vanishing testes or testicular regression syndrome).

The cryptorchid or ectopic testis must be differentiated from anorchism because of the risk for malignant degeneration and subfertility when the testis is left in an extrascrotal location. This differentiation may be resolved by an imaging study, such as an ultrasound, or it may require laparoscopic or direct surgical exploration.

Retractile testes can be found at any level within the path of testicular descent, but they are most commonly identified in the groin. Fortunately, they are not truly cryptorchid. Instead, they are introverted to an inguinal or abdominal position because of an overactive cremasteric reflex. The cremasteric reflex, observed as withdrawal of the testis above the scrotum and into the inguinal canal in response to various stimuli, including exposure to cool temperatures, is active during infancy and peaks around age 4 to 5 years. Unlike the cryptorchid testis, the retractile testis can be gently moved into the scrotum without residual tension and does not require treatment.

Clinical Manifestations

A nonpalpable testis is typically observed by the parent or detected during routine physical examination by a nurse practitioner or physician. If one testis is not palpable, the affected hemiscrotum will appear smaller than the other. With bilateral nonpalpable testes, both hemiscrota appear small. In the case of retractile testes, the parents may report intermittently observing the testes in the scrotum, interspersed with periods when they cannot be visualized or palpated. Frequently, the retractile testis will be observed in the scrotum when child is being bathed in warm water.

Diagnostic Evaluation

It is important to differentiate the true undescended testis from the more common retractile testis. Retractile testes can be “milked” or pushed back into the scrotum, but truly undescended ones cannot. For examination, the nurse can obviate the cremasteric reflex by placing the child in a squatting position or by applying firm finger pressure on the external ring before palpating the abdomen or genitalia. (See Fig. 6-39.)

Undescended testes are palpable along the inguinal canal, but those in the abdominal cavity usually are not. Ultrasonography, CT, MRI, and abdominal laparoscopy are sometimes used to verify cryptorchidism in children undergoing orchiopexy. Laparoscopy is the most accurate means for locating nonpalpable testes (Gatti and Ostlie, 2007). Suggestions to employ in diagnostic examination include:

Acquired undescended testes in children who have had normally descended testes are relatively uncommon. Evaluation of the testes should continue to be a part of the routine physical assessment.

Therapeutic Management

Retractile testes that can be manipulated into the scrotum will eventually assume a satisfactory scrotal position without medical or surgical intervention. The diagnosis is not made at a single examination, and parents are asked if they have observed the testes in the scrotum at some time. If so, the anomaly probably represents the retractile variety and the parents can be reassured. By 1 year of age, retractile testes will descend spontaneously in approximately 75% of cases in both full-term and preterm infants. In contrast, true undescended testes rarely descend spontaneously after 1 year of age.

A trial of hormone therapy with luteinizing hormone–releasing hormone (nasal spray) and human chorionic gonadotropin (injection) may be attempted. This method is commonly used in Europe; however, a recent review of the evidence does not support the use of hormonal therapy to elicit testicular descent (Gapany, Frey, Cachat, et al, 2008). Surgical treatment is the preferred management in the United States. If the testes do not descend spontaneously, orchiopexy is performed before the child’s second birthday, preferably between 1 and 2 years of age. Surgical repair is done to (1) prevent damage to the undescended testicle by exposure to the higher degree of body heat in the undescended location, thus maintaining future fertility; (2) decrease the incidence of malignancy formation, which is higher in undescended testicles; (3) avoid trauma and torsion; (4) close the processus vaginalis; and (5) prevent the cosmetic and psychologic handicap of an empty scrotum. Because of the increased propensity toward neoplastic changes (even after orchiopexy), cryptorchid testes are better observed in the scrotal position, where they can be routinely palpated.

The timing of the surgery is important, as it is in any genital surgery. Orchiopexy is usually performed between 6 and 24 months of age. Fewer psychologic effects and a higher rate of fertility may be achieved when repair takes place at an early age. Having both testes in the scrotum by school age prevents psychologic problems related to body image and peer-group embarrassment, since the empty scrotum is smaller in size and altered in shape.

In the routine surgical procedure for undescended testes, the testes are brought down into the scrotum and secured in that position without tension or torsion. A simple orchiopexy for a palpable testis can usually be performed in an outpatient surgical unit. Diagnostic laparoscopic surgery through the umbilicus is expected to improve outcomes in males with cryptorchid testes (Onal and Kogan, 2008). Intraabdominal testes require considerable surgical skill because of technical problems resulting from variations in the length of the spermatic cord, and overnight hospitalization may be necessary. In most cases the family can be reassured of normal testicular function in adulthood.

Nursing Care Management

Postoperative nursing care is directed toward preventing infection and instructing parents in home care of the child, including pain control. Infection is prevented by carefully cleansing the operative site of stool and urine. Observation of the wound for complications and activity restrictions are discussed. The child should avoid vigorous sports activities and use of toys that are straddled for 2 weeks postoperatively to prevent dislodgment of the testis from the scrotum. Parents are concerned about the child’s future fertility, and the nurse counsels the family regarding the prognosis and the optimum time for discussing it with the child—ideally, as a part of sex education. Follow-up care for all boys with cryptorchidism is suggested, especially those in whom orchiopexy was delayed until after age 10 or 11 years or never performed, since these boys are nearly six times more likely than other boys to develop testicular cancer (Walsh, Dall’Era, Croughan, et al, 2007; Gapany, Frey, Cachat, et al, 2008). They should learn how to perform testicular self-examination.

Surgical Correction

The principal objectives of surgical correction are (1) to enhance the child’s ability to void in the standing position with a straight stream, (2) to improve the physical appearance of the genitalia for psychologic reasons, and (3) to preserve a sexually adequate organ. Many procedures have been described that accomplish one or more of these goals. The choice of surgical procedure is affected primarily by the severity of the defect and the presence of associated anomalies.

Distal hypospadias (a defect noted on the glans penis) may be corrected by a meatal advancement and glanuloplasty (MAGPI) procedure or glans approximation procedure (GAP). The MAGPI requires a dorsal meatotomy with incision of the tissue between the urethral meatus and the glanular groove. The dorsal epithelium is then advanced distally, and care is taken to avoid disrupting the urethra. The ventral skin is then approximated, redundant tissue is carefully excised, and the defect is closed. The GAP requires approximation of the nonjoined urethral opening with lengthening of the urethra and deepithelialization of skin at the lateral edges of the defect. Although the procedure is relatively simple, the potential for urethrocutaneous fistula is significant.

More proximal hypospadias defects typically require alternative approaches. When sufficient ventral skin is present, a skin flap is mobilized that is large enough to reach the tip of the penis. The flap is freed with as much subcutaneous tissue attached as is feasible. Urethral reconstruction is accomplished by reversing the meatal-based flap distally to the glans penis. Specific strategies are used to provide adequate vascular supply to the mobilized skin grafts and to prevent fistula formation. When ventral skin volume is deficient, an island flap repair may be used. This procedure requires more extensive use of skin grafts to create the new urethra and close the defect.

The chordee that often coexists with a hypospadias defect is repaired by release of the ventral skin. When the chordee persists, additional procedures may be indicated. In many cases, a single operation will be all that is needed to correct hypospadias and chordee.

Increased surgical experience and improvements in technique have reduced the number of staged procedures needed for hypospadias defects. However, a staged procedure is indicated in particularly severe defects with marked deficits of available skin for mobilization of flaps and in rare cases when scrotal transposition occurs.

The preferred time for surgical repair is 6 to 12 months of age, before the child has developed body image. Occasionally a short course of testosterone is administered preoperatively to achieve additional penile size to facilitate the surgery.

Nursing Care Management

The nurse should examine every male newborn carefully for hypospadias. If the nurse suspects even mild hypospadias, this is reported to the practitioner. Traditionally the foreskin has been used to repair the hypospadias; however, newer surgical techniques do not require an intact foreskin for repair to be successful. In male infants who remain uncircumcised, the nurse should verify that the newborn’s meatal opening is present on the glans penis, preferably without forcefully retracting the foreskin. Preparation of parents for the type of procedure to be done and the expected cosmetic result helps avert problems. Frequently parents are informed of what is to be surgically corrected but are not advised of what to expect as a reasonable consequence. More refined surgical techniques performed by surgeons specializing in pediatric urologic conditions have improved cosmetic and functional outcomes in these boys. If children are old enough to understand what is occurring, the nurse also prepares them for the operation and the expected outcome.

Hypospadias repair may require some type of urinary diversion with a silicone stent or feeding tube to promote optimum healing and to maintain the position and patency of the newly formed urethra. Sedation may be required for the excessively irritable or restless child, and pain is controlled with analgesics. Epidural anesthesia using a local anesthetic and/or analgesic may be used as an adjunct to general anesthesia for the repair and left in place for postoperative pain management.

The nurse teaches the parents to care for the indwelling catheter or stent and irrigation technique if indicated. They need to know how to empty the urine bag and how to avoid kinking, twisting, or blockage of the catheter or stent. Often the child is discharged with a catheter or stent emptying directly into the diaper. To prevent infection, a tub bath should be avoided until the stent has been removed. An antibacterial ointment may be applied to the penis daily for infection control. In older children a urine collection device can be used. Parents need to learn how to secure the drainage bag to the leg to allow the child to be mobile, and they should be cautioned to never clamp off a catheter. A larger volume bedside urine bag should be used at night to prevent overfilling. Positioning the bag below the waist allows for proper drainage. An extra bag is sent home with the family in case of tears or leakage. The family should encourage the child to increase fluid intake. The child should avoid straddle toys, sandboxes, swimming, and rough activities until allowed by the surgeon.

Pathophysiology

Exstrophy results from failure of the abdominal wall and underlying structures, including the ventral wall of the bladder, to fuse in utero. As a result, the lower urinary tract is exposed and the everted bladder appears bright red through the abdominal opening. This is accompanied by a constant seepage of urine from the exposed ureteral orifices, making the area malodorous and susceptible to infection. The constant accumulation of urine on the surrounding skin produces tissue ulceration and further infection. Progressive renal damage from infection and obstruction may cause renal failure if left untreated.

In males the defect is almost always associated with epispadias and may include other problems, such as undescended testes and inguinal hernias. Even after reconstruction the sexual handicap in males may be severe because the penis is shortened and does not hang dependently. In females the genitalia may be affected, with a cleft or bifid clitoris; a bifid uterus; completely separated labia; and a duplicate, exstrophic, or absent vagina. In either sex, separation of the pubic bones is generally corrected by pelvic osteotomy, resulting in a normal gait for these children (Nelson, King, Sponseller, et al, 2006). The upper urinary tract is usually normal, and fertility is possible in females but more complex in males, who may require assisted reproductive techniques such as percutaneous sperm aspiration and intracytoplasmatic sperm injection to achieve a pregnancy (D’Hauwers, Feitz, and Kremer, 2008).

Therapeutic Management

The objectives of treatment are (1) preservation of renal function, (2) attainment of urinary control, (3) adequate reconstructive repair for psychologic benefit, (4) prevention of urinary tract infections, and (5) preservation of optimum external genitalia with continence and sexual function. The correction of an epispadias or bladder exstrophy defect is complex and in the past has required multiple surgical procedures and ongoing management of the urinary system. Single-stage surgical closure of bladder exstrophy and epispadias repair with total mobilization is now being performed with varying degrees of success in infants who meet single-stage closure repair criteria (Gearhart, 2001; Husman, 2006; Mitchell, 2005). Widespread acceptance of this procedure began in 1998; therefore the full extent of its success or complications are not yet known (Husman, 2006).

For the child with exstrophy undergoing staged repair, the bladder is closed during the neonatal period, preferably within the first 1 to 2 days of life. Until closure is performed, the bladder is covered with clear plastic wrap or a thin film dressing without adhesive. Petroleum jelly is avoided because it tends to damage the bladder mucosa. After bladder closure, the neonate is monitored for urinary output and for signs of urinary tract or wound infection. At the time of closure, the pelvic diastasis is corrected with an osteotomy or an external fixation device to prevent the waddling gait that occurs when pelvic bone defects are not addressed. Inguinal herniorrhaphies may be completed with initial closure to reduce the risk of subsequent incarceration, particularly for boys.

During the next 3 to 5 years, urine drains freely from the urethra, which has no sphincter mechanism. This period should allow the bladder to gain capacity while the child grows and matures before subsequent surgical repair. The parents should learn to recognize the signs of urinary tract infection and monitor the urinary system regularly via urinalysis and ultrasonographic imaging.

The second stage of exstrophy management is repair of the epispadias and creation of a urethral sphincter mechanism. Epispadias repair attempts to lengthen and straighten the penis to a more dependent position and provide a distal urethra adequate for urination and ejaculation. Creation of a urethral sphincter mechanism requires reconstruction of the bladder neck and tubulization of the proximal urethra to accomplish these goals.

In some children, reconstruction (tightening) of the bladder neck may not provide sufficient resistance to achieve urinary continence. In these cases, suburethral collagen injections or implantation of an artificial urinary sphincter may be performed. Occasionally the bladder fails to achieve an adequate functional capacity, and augmentation enterocystoplasty is required. This procedure is typically combined with the creation of a Mitrofanoff appendiceal stoma because catheterization is particularly difficult after reconstruction of the proximal urethra (see p. 404).

Abnormalities of the genitalia are addressed to ensure optimal sexual function. In boys the testes are typically cryptorchid, and bilateral orchiopexy is combined with reconstruction of the bifid scrotum to preserve testicular function. In girls, surgical enlargement of the vaginal introitus may be needed to permit intercourse. In both genders, plastic surgery to reduce scarring of the genital area or to create an umbilicus may significantly improve the child’s body image and emerging sexual identity.

Nursing Care Management

Physical care of the unrepaired defect includes meticulous hygiene of the bladder area to prevent infection and excoriation of the surrounding tissue. A sterile, nonadherent, moist dressing is placed over the exposed bladder area to prevent infection and to keep the diaper from adhering to the mucosa. Plastic wrap may be placed loosely over the dressing to protect the site and prevent drying of the dressing. A moisture barrier ointment may be prescribed for the surrounding skin to protect it from the constantly draining urine. After bladder closure, if external compression is used to immobilize the pelvis, the skin is inspected periodically for evidence of pressure necrosis.

Fluid management is critical because of the large insensitive water losses from the exposed viscera (Mercy and Brady-Fryer, 2004); therefore IV access is considered early. An umbilical arterial catheter may be inserted for blood specimen withdrawal and infusion of fluids (Mercy and Brady-Fryer, 2004).

Other aspects of preoperative care are similar to those for any major abdominal surgery. If a sterile specimen is needed for evaluation of existing infection, urine may be obtained by aspirating the specimen with a sterile syringe.

Nursing care after the complete primary repair is aimed at decreasing pain and agitation in the infant, preserving pelvic immobility, maintaining ureteric catheter patency, and maintaining the operative site intact. Abdominal distention from crying or other sources is avoided. NG tube decompression may be used to prevent abdominal distention. Dehiscence may occur postoperatively, and signs of suture separation or wound problems are promptly reported to the practitioner. The infant may require mummy wrapping or a spica cast, whereas the older child may have an external fixator in place to achieve pelvic stability and immobilization postoperatively (Nelson, King, Sponseller, et al, 2006). Skin care and care of the external fixation device to ensure appropriate function are essential components of nursing care of the child with exstrophy repair. Chapter 39 discusses nursing care of the child in a spica cast.

Postoperative nursing care after bladder neck reconstruction and antireflux surgery (ureteral reimplantation) includes routine wound care and careful monitoring of urinary output from the bladder and ureteral drainage tubes. Care after a penile lengthening, chordee release, and urethral reconstruction is similar to care after hypospadias repair.

Children who fail to attain urinary continence after bladder neck reconstruction are offered a continent diversion. Preoperatively, a bowel prep is required. In addition to routine postsurgical care, nursing after a continent diversion includes wound care, observation of NG suction (surgery requires bowel resection), and measurement and observation of urinary output. CIC is used to regularly empty the urinary reservoir. Most children are able to learn self-catheterization by age 6 or 7 years. Adult supervision is needed to ensure the child is compliant.

Pathophysiology

The pathophysiologic changes produced by obstruction are influenced by the location and severity of the blockage and by the presence of complicating factors, such as infection. When the kidney is obstructed, the papilla is flattened; the distal nephron is dilated; and, if the obstruction persists, glomerular filtration is greatly diminished or arrested. Unless the obstruction is relieved, these changes become irreversible, leading to renal insufficiency and atrophy of the affected kidney.

Several factors may magnify the destructive changes associated with obstruction. During the neonatal period the immature kidneys have a higher vascular resistance than do the kidneys of the older child or adult. This condition, combined with the immaturity of the parenchyma, accelerates the irreversible renal damage in response to obstruction. Infection also magnifies the destructive changes associated with urinary obstruction. In contrast to the adult, pyelonephritis in the developing kidney of the infant or child increases the chances of renal scarring that reduces the potential for further growth. However, predicting the extent of scarring and subsequent risk for further damage in every child with pyelonephritis is impossible.

Fortunately, when obstruction is restricted to one kidney, compensatory growth occurs in the contralateral kidney. In the infant and child, compensatory growth includes both hypertrophy (enlargement of existing nephrons) and hyperplasia (replication of new cells). Still, this cannot completely compensate for the loss of renal function created by obstruction of one kidney.

Obstruction also affects the smooth muscle of the renal pelvis, ureter, and bladder. Obstruction of the ureter and renal pelvis causes dilation in an attempt to overcome the obstruction by stronger peristaltic contractions. The process of dilation ultimately leads to urinary stasis and loss of smooth muscle tone unless the obstruction is relieved. The detrusor smooth muscle is also affected by obstruction of the bladder outlet. Like the ureter, the bladder initially responds by increasing the force and duration of its contractions. However, when the obstruction persists, the bladder wall becomes trabeculated and the effectiveness of the detrusor contractions is compromised. In addition to these changes, obstruction of the bladder causes neurologic changes that predispose the bladder to unstable (hyperactive) contractions and subsequent urge incontinence.

Clinical Manifestations

The clinical manifestations of obstructive uropathy depend on the location of the obstructing lesion, its severity, and the underlying cause. Maternal oligohydramnios may signal a renal problem in the developing fetus. Occasionally, UPJ obstruction is diagnosed when a child experiences flank pain, hematuria, and nausea after mild trauma or a urinary tract infection. However, these conditions are more frequently diagnosed on routine prenatal ultrasonographic examination or when a mass is observed during routine newborn examination. Congenital ureteral obstruction also may be asymptomatic, or the obstruction may cause urinary tract infections or an abdominal mass. In contrast, obstruction of the renal pelvis, ureter, or UPJ because of a urinary calculus produces a characteristic pain called renal colic. This pain is characterized by discomfort in the flank, lower back, or lower abdomen. The discomfort is typically intense and it is not relieved by changes in position. Renal colic typically occurs in the early morning hours and persists until the stone passes or is removed. Narcotic analgesia is frequently required to manage the pain produced by an obstructing stone.

Obstruction of the bladder produces lower urinary tract symptoms. These symptoms are closely related to those produced by other dysfunctional voiding conditions, including detrusor instability and urinary retention. Symptoms include poor force of urinary stream, intermittency of voided stream, feelings of incomplete bladder emptying, and postmicturition dribble. In addition, children with obstruction of the bladder or urethra may experience frequency of urination, nocturia, nocturnal enuresis, or urgency to urinate. Urge incontinence may occur, particularly when obstruction causes unstable contractions of the detrusor muscle.

Diagnostic Evaluation

Imaging studies are used to determine the level of the obstruction and the severity of the associated uropathy. Ultrasonography is used to define the anatomy of the obstruction, and radionuclide studies are frequently completed to determine the impact of the obstruction on renal function. Occasionally an IV pyelogram is used to provide a detailed evaluation of urinary tract function, but radionuclide scans or ultrasonography is generally preferred because it exposes the child to less radiation and carries no risk of adverse contrast reactions. The diethylenetriamine pentaacetic acid (DTPA) or mercaptoacetyltriglycine (MAG3) renal scan provides an estimate of renal function as well as renal and ureteral anatomy. The dimercaptosuccinic acid (DMSA) renal scan provides a superior method for determining individual kidney function, but this technique does not allow visualization of the renal pelves, ureters, or bladder. The VCUG is commonly performed to rule out reflux or to evaluate the posterior urethra in boys.

Prenatal detection of obstructive uropathy by sonogram and subsequent fetal surgery to relieve the obstruction in utero, thus preventing further damage as the kidneys develop, has met with varying success; in many cases renal function was not significantly improved (Chevalier, 2004; Salam, 2006). However, others report fewer fetal complications and morbidity with fetal surgical treatment of obstructive uropathy in large centers with more experience performing such procedures (Hofmann, Becker, Meyer-Wittkopf, et al, 2004; Wu and Johnson, 2009).

Therapeutic Management

The management of obstructive uropathy depends on the magnitude of the obstruction and the likelihood that renal function will be compromised unless aggressive intervention is undertaken. For example, UPJ obstruction causing hydronephrosis in the neonate may or may not require surgical intervention. In contrast, PUV obstruction requires aggressive intervention to prevent progressive, severe obstructive uropathy affecting the entire urinary system.

Whenever feasible, obstruction is treated by a surgical procedure that directly ablates the obstructive lesion. For example, UPJ obstruction is ideally treated by pyeloplasty or pyelotomy, urethral valves by endoscopic ablation, or obstructing calculi by extracorporeal or endoscopic shock-wave lithotripsy. Urinary flow is temporarily diverted during the postoperative period via a urethral catheter, ureteral stent, or pyelostomy tube (tube inserted directed into the renal pelvis) until postoperative edema subsides and adequate urinary outflow is achieved.

In contrast, transient or permanent urinary diversion may be required for the child with severe obstructive uropathy causing renal insufficiency who is not able to undergo surgery or who has irreversible damage to the lower urinary tract, posing an ongoing threat to renal function. Transient diversion can be created at the level of the renal pelvis (pyelostomy), the ureters (ureterostomy), or the bladder (vesicostomy), depending on the level of obstruction. The stomas created from these procedures are not typically pouched in the neonate. Instead, the infant’s diaper may be placed higher on the abdomen or a two-diaper system may be used to ensure urinary containment. Permanent urinary diversion usually involves a continent urinary diversion that incorporates a segment of bowel, stomach, or ureter to increase bladder capacity. In contrast to transient diversions, this procedure is reserved for older children and requires ongoing intermittent catheterization.

Nursing Care Management

Nursing goals in urinary tract obstruction include helping to identify cases, assisting with diagnostic procedures, and caring for children with complications. (See Chapter 30.) Preparing parents and children for procedures, especially urinary diversion procedures, is a major nursing responsibility. (See Preparation for Diagnostic and Therapeutic Procedures, Chapter 27.)

Parents and children need emotional support and counseling during the lengthy management of these disorders. Parents are the primary target during infancy and early childhood, when most reparative surgery is performed. They need assistance in managing the care of the child and in detecting subtle signs of urinary tract infection or renal failure. Parents may perform intermittent catheterizations in the home. Anticholinergics may also be used to decrease spasticity of smooth muscle of the bladder, and parents should be aware of the side effects of these medications (Hinds, 2004). Improved surgical techniques allow for the creation of urinary diversion systems that can be catheterized with greater ease, avoiding mechanical devices, which are often difficult to manage and impede normal everyday activities. (See also Management of Genitourinary Function, p. 403.)

Children with external diversional systems need psychologic support and guidance, especially as they reach adolescence and become more concerned with body image. Those with progressive renal deterioration may face the prospect of dialysis or transplantation and the emotional turmoil that accompanies these procedures.

Etiology

Genetic sex is determined at the time of conception and depends on whether the ovum is fertilized by a sperm bearing an X chromosome or one bearing a Y chromosome. The phenotypic evidence of gender depends on whether subsequent processes proceed normally: differentiation of primitive gonads, differentiation and development of internal duct systems, and differentiation and development of external genitalia. The normal order of events can be altered by abnormalities of the chromosomal complement, defects of embryogenesis, or biochemical (hormonal) abnormalities. Disturbances in any of these processes will lead to abnormal development evidenced by ambiguous genitalia at birth.

Types of Abnormalities

Some disorders with abnormal genital development are not characterized by ambiguous genitalia in the newborn period. For example, the most common sex chromosome disorders do not become apparent until later childhood, adolescence, or even young adulthood, when the individual seeks medical attention because of problems of delayed development or infertility. The four conditions producing ambiguous genitalia in the newborn that require prompt and accurate evaluation are the masculinized female, the incompletely masculinized male, the presence of both male and female sexual organs, and mixed gonadal dysgenesis.

Ambiguous genitalia in the newborn is often a result of virilization in the female by adrenal androgens after the time of early gonadal differentiation. The most common type, congenital adrenogenital hyperplasia (CAH), is an inherited deficiency of adrenal corticoid hormones. (See Chapter 38.) The resulting decrease in cortisol stimulates pituitary secretion of adrenocorticotropic hormone, which causes the adrenal cortex to increase production of adrenal hormones, including the androgens. Because the adrenal gland differentiates later than the gonadal duct system but before differentiation of the external genitalia, masculinization of the external genitalia is the predominant feature. The internal female anatomy is normal. Because even minor illnesses such as vomiting, diarrhea, and dehydration in the child with CAH can lead to life-threatening electrolyte disturbances, CAH should be considered in any situation where the child’s gender is doubtful.

The external genitalia in the incompletely masculinized male may be incompletely male, ambiguous, or completely female. The complex nature of virilization offers numerous opportunities for disturbance in the process. Defects may be a result of deficient production of fetal androgen, deficiency in any of the enzymes needed for testosterone biosynthesis, or unresponsiveness or subresponsiveness of genital structures to testosterone. Individuals who may be either genetic males or females with both ovarian and testicular tissues, with an ovary on one side and a testis on the other or a combination of ovotestis, are rare. The external genitalia may be male (possibly cryptorchid with a micropenis) or normal female, but are ambiguous in the majority of cases.

Mixed gonadal dysgenesis, in which affected infants are sex chromosome mosaics, is the second most common disorder. (See Sex Chromosome Aneuploidies, Chapter 5.) Genitalia vary greatly, but in those who appear predominantly female, the dysplastic testis may cause masculinization at puberty. Table 11-8 describes the external appearance of the genitalia.

Diagnostic Evaluation

Box 11-8 outline diagnostic tools and the significant findings that help determine sex and assist in making a gender assignment.

Therapeutic Management

The management of children with disorders of sex development has evolved in recent years as the traditional approach of assigning gender immediately followed by early surgical reconstruction has been challenged (Karkazis, 2006). Data describing long-term adjustment and quality-of-life issues for individuals with disorders of sex development are lacking. However, anecdotal reports from affected adults have influenced the standard of care. Decision making has become more complex now that endocrine, genetic, social, psychologic, and ethical elements of sex assignment have been integrated into the process. This multidisciplinary team approach, which includes parental participation, has led to the current practice of assigning gender while avoiding irreversible surgical interventions, realizing some children may change gender later in life.

The overall goal of management is to enable the affected child to grow into a well-adjusted, psychosocially stable person who is able to identify with the assigned gender and is content with same (Allen, 2009; Houk, Hughes, Ahmed, et al, 2006; Nabhan and Lee, 2007). Current recommendations for gender assignment involve a number of factors, including:

Clearly the decision for gender assignment in cases of ambiguous genitalia is a difficult one, and the “one size fits all” approach is not applicable. In some cases children may reach puberty and request gender reassignment (Phornphutkul, Fausto-Sterling, and Gruppuso, 2000; Migeon, Wisniewski, Brown, et al, 2002). Federman (2004) emphasizes that evidence in long-term studies suggests that a hormonal role in the sexualization of the brain is more significant than previously recognized. Each child must be considered individually with adequate input from family and extensive diagnostic evaluation. Families often require long-term counseling and follow-up to ensure the child’s welfare and security in the assigned gender.

An evidence-based consensus statement on the management of disorders of sex development has been published and assists in providing a standard of care for these disorders, emphasizing quality of life and patient-centered decision making (Lee, Houk, Ahmed, et al, 2006).

Nursing Care Management

Families need a great deal of support and encouragement from nurses and other members of the health care team to cope with this emotionally charged situation.* Parents are confused, anxious, and overwhelmed by feelings of guilt and shame. They may pressure the health care team for immediate gender assignment because they are concerned about the child and the child’s future and because they must face questioning relatives and friends. The best approach is honesty. The disorder should be treated as any other disorder, with no attempt to camouflage the problem. The sequence of embryologic events leading to the defect can be explained using correct terminology to describe abnormalities of genitalia and reproductive organs. An understanding of the anomaly assists parents in explaining the defect to others, just as with any other physical defect. It requires sympathy and understanding to deal with parental anxiety during this trying period and to guide them throughout the long-term management. (See Chapter 22.)

• Congenital malformations or anomalies, or “birth defects,” are present at birth and are a result of genetic or nongenetic influences.

• Typical reactions of parents to an infant with a physical defect include grief over loss of a perfect child, shock, and withdrawal.

• The nurse’s primary roles in care of an infant with a physical defect are caregiver, provider of family support, and supplier of information.

• Surgery initiates a number of physiologic responses, including cardiovascular, respiratory, endocrine, renal, GI, immune, neurologic, and fluid and electrolyte.

• One of the largest groups of congenital anomalies includes those associated with the embryonic neural tube, the most common of which are SB and myelomeningocele.

• When taken before and during pregnancy, folic acid supplementation may prevent as many as 50% to 70% of the cases of NTDs, anencephaly, and SB.

• Care of the infant and child with myelomeningocele requires both immediate and long-term professional supervision. Associated problems include infection, neurologic damage, impaired renal function, musculoskeletal impairment, and latex allergy.

• Hydrocephalus is a symptom of an underlying brain pathologic condition, demonstrated by impaired absorption of CSF or obstruction to the flow of CSF within the ventricles.

• Therapy for hydrocephalus involves relief of the ventricular dilation, treatment of the underlying brain pathologic condition, prevention and/or treatment of complications, and management of problems related to psychomotor development.

• Treatment of DDH involves maintaining the head of the femur correctly positioned in the acetabulum by means of an external device, usually the Pavlik harness.

• Treatment of clubfoot involves manual overcorrection of the deformity, maintenance of the correction until normal muscle balance is gained, and follow-up observation to detect possible recurrence of the deformity.

• CL deformities are repaired at the earliest opportunity; CP repair may be delayed to take advantage of growth changes.

• Management of CP involves a multidisciplinary approach involving professionals from surgery, medicine, nursing, social work, dentistry, speech-language pathology, and audiology.

• Major nursing challenges with infants born with either CL or CP involve feeding.

• TEF is an abnormal connection between the esophagus and the trachea, placing the untreated infant at risk for life-threatening pulmonary aspiration.

• Anorectal defects are often associated with other congenital anomalies, such as those involving the GI tract and kidneys.

• CDH may be diagnosed in the first trimester of pregnancy and usually causes moderate to severe respiratory distress at birth.

• Umbilical and inguinal hernias are common in children and require minor surgical intervention with excellent postoperative recovery.

• Abdominal wall defects, omphalocele and gastroschisis, require careful nursing care involving thermoregulation, fluid management, and prevention of infection preoperatively and postoperatively.

• GU defects are repaired early to promote normal function and psychosocial adjustment.

• In disorders of sex development, gender assignment is established after careful evaluation of prenatal and postnatal influences, karyotype, genitalia features, surgical possibilities, future fertility, and potential sexual function.