Mid-trimester dilated fetal bowel leading to diagnosis of interstitial duplication 46,XX,dup(8)(q21.13q21.2) associated with extensive neonatal jejuno-ileal atresia

Sonographic findings of transient marked proximal bowel dilatation in a growth-restricted fetus at 35 weeks’ gestation

“…The differential diagnosis of etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel includes (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] . Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions, with a detection rate in cases of low risk of aneuploidy of 3.85% by copy number variation sequencing (CNV-seq) in contrast to 7.69% by whole exome sequencing (WES) [12] , [13] , [14] , [15] . In addition, conditions associated with dilated loops of fetal bowel include a small subset of conditions in which this finding may be transient, which although prominent when seen, may dissipate with spontaneous resolution [ 16 , 17 ].…”