Gastroschisis and exomphalos: precise diagnosis by midpregnancy ultrasound

Abstract

As part of a regional screening programme for neural-tube defects the cause of the raised a-fetoprotein levels was correctly identified in 13 pregnancies with a fetal abdominal wall defect by the 22nd week. Careful ultrasound study identified gastroschisis in seven fetuses and exomphalos in six: the presence or absence of a sac, the course of the umbilical vessels and the abdominal organs involved were the most important diagnostic criteria. Pregnancy continued into the third trimester in five cases complicated solely by gastroschisis and two babies have survived the neonatal period following surgical correction. It is suggested that precise identification by ultrasound of the type and severity of abdominal wall defect and also of the presence or absence of associated anomalies will enable the selection of some babies with gastroschisis or isolated exomphalos which have a good prognosis for survival without handicap.

Prenatal Diagnosis of Fetal Abdominal Wall Defects: A Retrospective Analysis of 44 Cases

“…Similar to Redford et al (1985), in nearly all instances an accurate prenatal differential diagnosis between omphalocoele (3013 1) and gastroschisis (10/11) could be made, as omphalocoele is characterized by its central location at the base of the umbilical cord insertion site and the presence of a covering membrane consisting of peritoneum and amnion, whereas gastroschisis is usually located at the right paraumbilical area, devoid of a surrounding membrane and separated from a normal umbilical cord insertion. The distinction between these two entities is of great importance since they differ markedly in their typical pathological findings, frequency of associated malformations, chromosomal anomalies, and prognosis.…”

Recreational Drug Use: A Major Risk Factor for Gastroschisis?

“…The first reported case of prenatally diagnosed gastroschisis was by Giulian andAlvear in 1978 (Giulian andAlvear, 1978). The criteria for ultrasound diagnosis of abdominal wall defects are well reported (Redford et al 1985), (Nielsen et al 1985). The three most important features for distinguishing between different abdominal wall defects are the presence or absence of a sac, the position of the umbilical vessels entering the abdomen and which abdominal organs are involved.…”

Left Sided Gastroschisis With Limb Abnormalities

“…According to deVries (2002), gastroschisis results from an abnormal involution of the right umbilical vein that leads to a paraumbilical defect through which the small bowel prolapses at approximately 37 days of embryonic life (13) . The diagnosis can be made with endovaginal sonography as early as 12 weeks (2,14,15) . Sonographic visualization of freely floating loops of bowel within the amniotic fluid with an abdominal wall defect to the right of the insertion of the umbilical cord at any point after the normal embryonic return of the intestine to the abdominal cavity at 10 weeks of gestation confirms the diagnosis.…”