Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.     

Gastroschisis and omphalocele: Prenatal diagnosis and perinatal management

Obstetric ultrasonography has made the prenatal diagnosis of gastroschisis and omphalocele more common. We present illustrative cases 2nd review the ultrasonographic features. Because of the increased risk of concomitant abnormalities (including trisomies) with omphalocele, full evaluation is indicated when this diagnosis is suspected. Recent perinatal approaches to delivery have favoured caesarean section. without scientific evidence that outcome is improved. Our experience. as well as a review of the literature, suggests that the outcome for vaginally delivered infants is acceptable. A prospective study of this question is needed.     

Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow

A case of fetal gastroschisis associated with 45,XY, —22/46.XY mosaicism and absent cerebral diastolic flow is described. This is the third case reported of monosomy 22 mosaicism, and the first one to be diagnosed antenatally.     

An association between fetal abdominal wall defects and elevated levels of human chorionic gonadotropin in mid-trimester

We analysed maternal serum human chorionic gonadotropin (hCG) in 16 pregnancies with fetal abdominal wall defects previously identified prenatally by elevated maternal serum alpha-fetoprotein (AFP) or at birth. The AFP levels had a mean of 6·38 MOM (range 0·34–15·65), as expected with these defects. The hCG levels had a mean of 1·82 MOM (range 0·23–4·11). The hCG levels in five pregnancies (31·25 per cent) were above 2·30 MOM. Elevated levels of hCG may be associated with fetal abdominal wall defects.     

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.     

Can fetal gastroschisis always be diagnosed prenatally?

Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term herniation through the abdominal wall and primary surgical correction was successful. Gastroschisis has previously been classified as ‘antenatal’ and ‘perinatal’, and we conclude that the latter type is not always possible to diagnose prenatally.     

The association between ‘faint-positive’ amniotic fluid acetylcholinesterase and fetal malformations

The finding of a ‘faint-positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations.     

Amniotic fluid alpha-fetoprotein and acetylcholinesterase measurements in pregnancies associated with gastroschisis

In this study we define for the first time the distribution of alpha-fetoprotein levels and acetylcholinesterase ratios in amniotic fluid samples associated with fetal gastroschisis. Elevated alpha-fetoprotein levels and positive acetylcholinesterase measurements are found in virtually all cases, indicating that these combined measurements are highly reliable in detecting this lesion.