应用染色体微阵列分析技术评估羊水过多胎儿的遗传变异。

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.

机构信息

Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Fuzhou City, 350001, Fujian Province, China.

Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, China.

出版信息

BMC Med Genomics. 2022 Mar 30;15(1):73. doi: 10.1186/s12920-022-01224-w.

DOI:10.1186/s12920-022-01224-w

PMID:35354480

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8966299/

Abstract

BACKGROUND

Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.

METHODS

Data from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52).

RESULTS

CMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios.

CONCLUSIONS

Non-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.

摘要

背景

羊水过多，即羊水异常积聚，与异常核型风险升高相关，尤其是非整倍体。针对羊水过多妊娠行染色体微阵列分析（CMA）的研究有限。本研究旨在通过 CMA 检测和常规核型分析评估羊水过多妊娠的意义。

方法

回顾了 2017 年 5 月至 2021 年 5 月期间因羊水过多而接受产前 CMA 检测的 131 例单胎妊娠和 17 例双胎妊娠的数据。纳入病例分为单纯性羊水过多（N=39）和非单纯性羊水过多（N=111）。非单纯性羊水过多组进一步分为软标记组（n=59）和非软标记组（n=52）。

结果

CMA 在 9 例单胎妊娠胎儿和 1 例双胎妊娠胎儿中发现了 10 个（6.7%）具有临床意义的额外染色体异常。观察到 6 个微缺失/微重复综合征，其中 4 个位于 17 号染色体上。非单纯性羊水过多中具有临床意义的 CMA 发现的增量检出率为 8.1%，伴有软标记和非软标记的胎儿的检出率分别为 5.1%和 11.5%（p>0.05）。在 39 例单纯性羊水过多胎儿中仅发现 1 例与神经病相关的偶然发现，易发生压力性神经病变。