Clinical utility of chromosomal microarray analysis and whole exome sequencing in fetuses with oligohydramnios

Abstract

Objective: To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in fetuses with oligohydramnios.Methods: In this retrospective study, 126 fetuses with oligohydramnios at our center from 2018 to 2021 were reviewed. Results of CMA and WES were analyzed.Results: One hundred and twenty-four cases had CMA performed and 32 cases had WES performed. The detection rate of pathogenic/likely pathogenic (P/LP) copy number variants (CNVs) by CMA was 1.6% (2/124). WES revealed P/LP variants in 21.8% (7/32) of fetuses. Six (85.7%, 6/7) fetuses showed an autosomal recessive inheritance pattern. Three (42.9%, 3/7) variants were involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of autosomal recessive renal tubular dysgenesis (ARRTD).Conclusion: CMA has low diagnostic utility for oligohydramnios. WES is an efficient approach and should be recommended in cases of oligohydramnios.