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

Xiaomei Shi; Hongke Ding; Chen Li; Ling Liu; LiHua Yu; Juan Zhu; Jing Wu

doi:10.1080/07853890.2023.2215539

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

Ann Med. 2023 Dec;55(1):2215539. doi: 10.1080/07853890.2023.2215539.

Authors

Xiaomei Shi¹, Hongke Ding¹, Chen Li¹, Ling Liu¹, LiHua Yu¹, Juan Zhu¹, Jing Wu¹

Affiliation

¹ Genetic Medical Center, Guangdong Women and Children Hospital, Guangzhou, China.

Abstract

Objectives: To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in foetuses with oligohydramnios.

Methods: In this retrospective study, 126 fetuses with oligohydramnios at our centre from 2018 to 2021 were reviewed. The results of CMA and WES were analysed.

Results: One hundred and twenty-four cases underwent CMA and 32 cases underwent WES. The detection rate of pathogenic/likely pathogenic (P/LP) copy number variant (CNV) by CMA was 1.6% (2/124). WES revealed P/LP variants in 21.8% (7/32) of the foetuses. Six (85.7%, 6/7) foetuses 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, while WES offers obvious advantages in improving the detection rate. WES should be recommended for fetuses with oligohydramnios.

Keywords: Prenatal diagnosis; chromosomal microarray analysis; oligohydramnios; whole exome sequencing.

Plain language summary

CMA has low diagnostic utility for oligohydramnios.WES offers obvious advantages for improving the detection over CMA, which improves pregnancy management, prenatal counselling and recurrence risk assessment for future pregnancies.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Exome Sequencing
Female
Fetus
Humans
Microarray Analysis
Oligohydramnios* / genetics
Pregnancy
Prenatal Diagnosis
Retrospective Studies

Grants and funding

Financial Support for the clinical trial was provided by Basic and Applied Basic Research Foundation of Guangzhou, China [202102080263] and Traditional Chinese Medicine Bureau of Guangdong Province, China (20221045).