Prenatal ultrasonic diagnosis of anterior abdominal wall defects

Nine cases of different types of anterior abdominal wall defects were diagnosed prenatally by ultrasound: gastroschisis (one case), omphalocele (five cases), exstrophy of the cloaca (one case) and the extreme form of prune belly syndrome (two cases). The ultrasonic features of gastroschisis and omphalocele are well recognized by most experienced sonographists. The ultrasonic prenatal diagnosis of exstrophy of the cloaca has not been reported previously and it is a very rare entity. The anterior abdominal wall defect is larger than in omphalocene and is located infraumbilically. Fetal ascites and a lumbosacral myelomeningocele are present as well. The extreme form of prune belly syndrome is associated with the absence of the abdominal wall musculature and marked dilatation of the urinary tract, presented ultrasonically as multiple large cysts occupying the distended fetal abdominal cavity. The differential diagnosis of these entities and guidelines for their correct prenatal ultrasonic diagnosis will be discussed.     

Perinatal management of congenital diaphragmatic hernia and anterior abdominal wall defects

The prenatal diagnosis and antepartum management of congenital diaphragmatic hernia and anterior abdominal wall defects are reviewed. In addition, the intrapartum and neonatal considerations and management strategies are discussed.     

Prenatal assessment of anterior abdominal wall defects and their prognosis

Eighty-eight cases of abdominal wall defect with and without other lesions were ascertained by reviewing all labour room records in the West of Scotland, all surgical admissions to the Royal Hospital for Sick Children, Yorkhill, and all post mortems at Royal Hospital for Sick Children between 1978 and 1981. The affected cases comprised 39 terminations of pregnancy (17 of anterior abdominal wall defect without neural tube defect), 20 spontaneous stillbirths and 29 livebirths. All 10 cases of body stalk anomaly, 37.5 per cent of 16 gastroschisis cases and 53 per cent of 62 exomphalos cases had additional severe abnormalities. Abnormal karyotypes were present in seven out of 19 exomphalos cases but all karyotypes from 10 gastroschisis and 6 body stalk anomaly cases were normal. No correlation was found between the maternal serum AFP levels, the amniotic AFP levels and acetylcholinesterase results and the size of the lesion. It is proposed that anterior abdominal wall defects detected prenatally should have chromosome analysis and careful ultrasound to exclude associated severe anomalies before coming to a decision about termination. This policy was implemented in six pregnancies complicated by fetal gastroschisis without severe associated anomalies which were identified in the second trimester and continued to term. Immediate surgical repair was achieved in each case, although two of the infants succumbed from later complications of gastroschisis closure and one from respiratory distress syndrome. The remaining three infants made a satisfactory recovery.     

Pitfalls in prenatal diagnosis of unusual congenital abdominal wall defects

We report three cases of unusual skin covered abdominal wall defects not accurately diagnosed by prenatal sonography. An associated omphalocele was recognized in two but misinterpreted as a giant omphalocele in one. Suspicious sonographic features – an enlarged abdominal circumference, irregular laxity of the abdominal – may be clarified by MRI.     

Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect

We report a case of abdominal eventration associated with cystic fibrosis, diagnosed by mid-trimester ultrasonography. The defect concerned the abdominal muscles and their aponevrotic sheath, but respected the skin. There was no associated malformation. The outcome was favorable after surgery, and the infant is well at the age of 6 months.     

Pitfalls in prenatal diagnosis of unusual congenital abdominal wall defects.

We report three cases of unusual skin covered abdominal wall defects not accurately diagnosed by prenatal sonography. An associated omphalocele was recognized in two but misinterpreted as a giant omphalocele in one. Suspicious sonographic features--an enlarged abdominal circumference, irregular laxity of the abdominal--may be clarified by MRI.     

Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects.

Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.     

Prenatal diagnosis and management of congenital heart disease

Thirty-two fetuses were diagnosed as having congenital heart disease (CHD). The major indications for level II echocardiography other than suspected cardiac abnormalities were fetal malformations, nonimmune hydrops and cardiac arrhythmia. Only three patients had a previous history of fetal CHD. No false-abnormal diagnosis of severe CHD was made. Aortic arch anomalies represented the major diagnostic problem among the six correct but incomplete diagnoses. Sixty-one percent of the fetuses were growth retarded, thus confirming the severity of their CHD. Chromosomal anomalies and extracardiac malformations were associated in 19% and 44% of the fetuses, respectively. Obstetric management and fetal prognosis in cases of extracardiac malformations were greatly influenced by the diagnosis of CHD. The poorest perinatal outcome was associated with heart failure. The only intrauterine deaths occurred in that group, and only one neonate survived. The outcome was more favorable in neonates without other malformations or heart failure. Four of ten (40%) of those neonates survived, while the overall perinatal survival rate was 24%.     

The prenatal diagnosis of ventral abdominal wall defects

Ventral abdominal defects are frequently diagnosed by prenatal ultrasonography. This review of 47 infants with ventral defects was designed to determine the effect of prenatal diagnosis on neonatal outcome. All nine infants with prenatal diagnosis were delivered by cesarean section at tertiary level hospitals. Only 13 (34%) of 38 infants with unsuspected defects were delivered by cesarean section and 15 (39%) were delivered at tertiary level hospitals. There was no difference in mortality between infants with prenatal diagnosis (44%) and those with unsuspected defects (37%). Increased mortality correlated with the presence of other major anomalies (79% mortality), with birth weight less than 1500 gm (80%), and with omphaloceles (65%). We conclude that infants with other associated defects or with birth weight less than 1500 gm have poor outcomes and cesarean section may not be justifiable. However, in larger infants without other anomalies, prenatal diagnosis was followed by cesarean section and a good prognosis.     

Echocardiography in the investigation of anterior abdominal wall defects in the fetus

Of 20 pregnancies referred for fetal echocardiography with a diagnosis of anterior abdominal wall defect, congenital heart disease was present in eight of the 17 with exomphalos and in none of the three with gastroschisis. Four of these eight affected pregnancies were terminated because trisomy 18 was diagnosed, of the remaining four, only one baby survived infancy. We conclude that ultrasound investigation of the fetal heart is an important part of the diagnostic assessment of anterior abdominal wall defect if an accurate prognosis and appropriate obstetric management are to be provided.     

Echocardiography in the investigation of anterior abdominal wall defects in the fetus

Summary. Of 20 pregnancies referred for fetal echocardiography with a diagnosis of anterior abdominal wall defect, congenital heart disease was present in eight of the 17 with exomphalos and in none of the three with gastroschisis. Four of these eight affected pregnancies were terminated because trisomy 18 was diagnosed, of the remaining four, only one baby survived infancy. We conclude that ultrasound investigation of the fetal heart is an important part of the diagnostic assessment of anterior abdominal wall defect if an accurate prognosis and appropriate obstetric management are to be provided.     

Ultrasonic diagnosis of surgical diseases of the anterior abdominal wall

The use of ultrasound in surgical diseases of the abdominal wall has received scant attention. The criteria for the ulrasonic diagnosis of abdominal wall disease and the usefulness of ultrasound in patients with incisional pain, occult hernias and abdominal wall masses are illustrated by the records of these patients. Ultrasound of the abdominal wall is a safe, rapid and noninvasive test that can be performed in any patient population, including the postoperative patient, without risk of contrast reaction of radiation exposure.     

Prenatal sonographic diagnosis of congenital sacrococcygeal teratoma and management

Teratomas are tumors containing tissues derived from all three germinal cell layers. Most teratomas arise in the sacrococcygeal region, with a reported incidence of 1/40,000 births. During labor, severe dystocia may occur in infants with large tumors if delivered vaginally, with an extremely high fetal morbidity and mortality rate. Reported is a case of a large congenital sacrococcygeal teratoma diagnosed antepartum by sonography at 36 weeks pregnancy. This sonographic finding allowed us to avoid traumatic delivery. Cesarean section was performed, with the delivery of a 4.050-g female infant with a large sacrococcygeal tumor. Resection of the sacral mass was performed on the 5th day of life. Pathologic examination showed a mature sacrococcygeal teratoma weighing 620-g, and measuring 14-cm by 11-cm by 9-cm. The infant had an uneventful recovery. This report agrees with previous reported cases in which successful management of sacrococcygeal teratomas could be achieved with accurate prenatal diagnosis, atraumatic delivery, and prompt surgical intervention. The role of sonography in the management of these cases is stressed.