title: Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities.
abstract: During an 8-year period (1983-1991), blood karyotyping was performed in 235 fetuses with abdominal wall or gastro-intestinal tract defects. The overall incidence of chromosomal abnormalities was 29% (trisomy 21, n = 12; trisomy 18, n = 44; trisomy 13, n = 7; deletion of the short arm of chromosome 5, n = 1; unbalanced translocation involving chromosomes 4 and 15, n = 1; triploidy, n = 1; Klinefelter's syndrome, n = 1; and Beckwith-Wiedemann syndrome with mosaic duplication 11p15, n = 1). The karyotype was abnormal in 42 (36%) of the 116 fetuses with exomphalos, in none of the 26 with gastroschisis, in 10 (43%) of the 23 with duodenal atresia, in 18 (75%) of the 24 with lack of visible stomach, in 1 (4%) of the 24 with dilated bowel and in 2 (7%) of the 27 with echogenic hepatic nodules or abdominal cysts. Abnormal karyotypes were more commonly encountered when there was ultrasonographic evidence of multiple malformations (43%) compared to isolated defects (2%). Survival in fetuses with exomphalos (33%), absent stomach (4%), and large bowel obstruction (13%) was poor, whereas in those with gastroschisis (73%) or abdominal cysts (88%) survival was high; in small bowel obstruction and in duodenal atresia, survival was 65 and 57%, respectively.
authors.affiliation: Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gyneacology, King's College Hospital Medical School, London, UK.
authors.forename: K H
authors.initials: KH
authors.lastname: Nicolaides
authors.forename: R J
authors.initials: RJ
authors.lastname: Snijders
authors.forename: H H
authors.initials: HH
authors.lastname: Cheng
authors.forename: C
authors.initials: C
authors.lastname: Gosden
mesh_terms: D000009:Abdominal Muscles / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D004065:Digestive System Abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis