利用 CNV-Seq 估算羊水过少或羊水过多胎儿的遗传变异。
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.
机构信息
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
出版信息
Mol Genet Genomic Med. 2023 Jan;11(1):e2089. doi: 10.1002/mgg3.2089. Epub 2022 Nov 18.
BACKGROUND
Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear.
METHODS
We retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group), by CNV sequencing (CNV-Seq) and followed their pregnancy outcomes.
RESULTS
The overall detection rate of clinically significant findings was 8%, with 5% in the SU group and 11% in MU group. Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabetes syndrome (22%, 4/18). Also, the rate of termination of pregnancy in MU group was much higher than that in the SU group (29% vs. 10%, ***p < 0.001), and in the MU-oligohydramnios subgroup, it was the highest (34%), regardless of cases with chromosomal anomaly and lost to follow-up.
CONCLUSION
Our results showed that the abnormal level of amniotic fluid, especially combined with other ultrasound abnormalities, is closely related to chromosomal abnormalities and genetic CNVs. CNV-Seq may be useful in investigating pregnancies with an abnormal amniotic fluid level.
背景
羊水过少或过多与染色体异常有关，尤其是非整倍体。然而，其与拷贝数变异（CNV）的相关性尚不清楚。
方法
我们通过拷贝数变异测序（CNV-Seq）对 428 例羊水异常水平的病例进行了回顾性分析，包括 139 例单一超声表现（SU 组）和 289 例多种超声表现（MU 组），并随访其妊娠结局。
结果
临床显著发现的总检出率为 8%，SU 组为 5%，MU 组为 11%。此外，检测到 18 种微缺失/微重复综合征，以肾囊肿和糖尿病综合征的发生率最高（22%，4/18）。此外，MU 组的终止妊娠率明显高于 SU 组（29%比 10%，***p<0.001），在 MU 羊水过少亚组中，终止妊娠率最高（34%），无论是否存在染色体异常和失访。
结论
我们的结果表明，羊水异常水平，特别是与其他超声异常相结合，与染色体异常和遗传 CNV 密切相关。CNV-Seq 可能有助于研究羊水异常水平的妊娠。
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