A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

European Journal of Medical Genetics(2020)

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摘要
•We evaluate the detailed clinical follow-up information of 40,311 cfDNA screening cases in our prenatal diagnosis center.•The case of unconfirmed high-risk results, 44.28% directly to TOP, 41.4% had live births and 14.29% were lost to follow-up.•In the group of 39572 cases with low-risk results, 0.1% underwent invasive testing and confirmed six abnormal cases.•In cases with RAT and CNV results, 189 cases underwent invasive testing, revealing 5 cases RAT and 4 pathogenic CNVs.•Our study provided information that may help us with result interpretation, genetic counseling and the decision making in clinic.
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关键词
Non-invasive prenatal testing,Chromosomal aneuploidy,Prenatal diagnosis,Follow-up data
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