Evaluation of the practical applications of fluorescence in situ hybridization in the prenatal diagnosis of positive noninvasive prenatal screenings.

Duan Ju,Xiaozhou Li,Yunfang Shi, Yanhong Ma,Liqiong Guo, Yanli Wang, Ruiyu Ma,Yuanyue Zhong,Ying Zhang,Fengxia Xue

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians（2022）

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摘要

For the prenatal diagnostic indications of positive NIPS of T13, T18, T21, and SCAs, FISH was equally efficacious in identifying aneuploidies and provided a quick diagnosis to alleviate anxiety. However, the missed risk of FISH analysis for structural chromosomal abnormalities should be taken seriously and fully informed during genetic counseling.

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关键词

FISH,NIPS,karyotype analysis,prenatal diagnosis

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