Fetal Abdominal Wall Defects

Abstract

Abdominal wall defects (AWDs) represent a group of congenital anomalies that can be diagnosed early during pregnancy even at the time of the first trimester assessment, with direct impact on pre-and postnatal fetal prognosis and management decisions. The most frequent anomalies in this group are gastroschisis and omphalocele. The key method available, that allows the detection of any deviation from the physiologic midgut herniation, is the ultrasound (US) assessment. A precise algorithmic scan approach is imposed not only for an accurate detection of any abdominal wall defect, but also for a proper location of the defect and of the spatial relation to the umbilical cord insertion, fundamentally important in differentiating among various malformations. Other structural or chromosomal anomalies should be excluded. Suitable multidisciplinary counseling should be considered. Unfortunately, in utero surgery, in these cases, has not been yet successful. Postnatal early interventions are usually required in specialized pediatric centers.

A Spectrum of Ultrasound and MR Imaging of Fetal Gastrointestinal Abnormalities: Part 2 Anorectal Malformation, Liver, and Abdominal Wall Anomalies

“…Pentalogy of Cantrell is a complex midline supra‐umbilical defect comprising omphalocele, a ventral diaphragmatic hernia, ectopic cordis, sternal cleft and intracardiac defect which can be diagnosed using a first trimester US scan usually as soon as 10 weeks' gestation 65 . There is risk of chromosomal anomalies, such as trisomy 13, 18, and Turner syndrome 59,65 .…”

“…Pentalogy of Cantrell is a complex midline supra‐umbilical defect comprising omphalocele, a ventral diaphragmatic hernia, ectopic cordis, sternal cleft and intracardiac defect which can be diagnosed using a first trimester US scan usually as soon as 10 weeks' gestation 65 . There is risk of chromosomal anomalies, such as trisomy 13, 18, and Turner syndrome 59,65 . While MRI can show most of the abnormalities such as pleural or pericardial effusion, omphalocele and ectopic cordis, diaphragmatic defects are difficult to be evaluated by MRI 48…”

“…Limb–body wall complex or body stalk syndrome is one of the most extreme forms of abdominal wall defects, in which herniation of the peritoneal cavity into the extraembryonic coelomic cavity results in a malformed fetus attached to the placenta and a short or absent umbilical cord 65 . The anomaly consists of a large thoraco‐abdominoschisis, scoliosis, cardiac defects, limb, and craniofacial anomalies 56 .…”

“…The anomaly consists of a large thoraco‐abdominoschisis, scoliosis, cardiac defects, limb, and craniofacial anomalies 56 . Association with chromosomal anomalies have been reported to be low 65 (Figures 8 and 9).…”