Genetic Medical Center, Guangdong Women and Children Hospital, Guangzhou, China.
Ann Med. 2023 Dec;55(1):2215539. doi: 10.1080/07853890.2023.2215539.
To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in foetuses with oligohydramnios.
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.
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).
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.
评估染色体微阵列分析（CMA）和全外显子测序（WES）在羊水过少胎儿中的临床应用价值。
本回顾性研究纳入了 2018 年至 2021 年在我院因羊水过少就诊的 126 例胎儿。分析了 CMA 和 WES 的检测结果。
124 例病例接受了 CMA 检测，32 例病例接受了 WES 检测。CMA 的致病性/可能致病性（P/LP）拷贝数变异（CNV）检出率为 1.6%（2/124）。WES 显示 32 例病例中有 21.8%（7/32）存在 P/LP 变异。6 例（85.7%，6/7）胎儿表现为常染色体隐性遗传模式。其中 3 个（42.9%，3/7）变异涉及肾素-血管紧张素-醛固酮系统（RAAS），该系统是常染色体隐性肾小管发育不良（ARTD）的已知遗传病因。
CMA 对羊水过少的诊断效用较低，而 WES 可明显提高检测率。对于羊水过少的胎儿，应推荐进行 WES 检测。
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