Key clinical point: Fetuses with complicated congenital gastrointestinal obstruction (CGIO) vs. isolated CGIO are at a greater risk for chromosomal aberrations and pathogenic copy number variants (CNV).
Main finding: Fetuses with complicated CGIO showed a significantly higher detection rate of karyotype abnormalities (33.8% vs. 10.8%; P < .01) and overall detection rate of pathogenic CNVs (20% vs. 4.8%; P < .05) than those with isolated CGIO.
Study details: This retrospective study analyzed 240 fetuses prenatally diagnosed with CGIO who presented as either isolated (alone) or complicated (in combination with certain soft markers and structural abnormalities) and were referred for karyotyping or copy number variation sequencing.
Disclosures: No source of funding or conflict of interests were reported by the authors.
Source: Meng X, Jiang L. BMC Pregnancy Childbirth. 2022;22:50 (Jan 19). Doi: 10.1186/s12884-022-04401-y.