To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. According to the different indications for amniocentesis, the study was divided into 8 groups. The number of amniocentesis specimens, the number of abnormal karyotypes and the positive rate of each group were analyzed. Compared with prenatal serum screening, noninvasive prenatal DNA testing is more accurate and can effectively improve screening efficiency. Multiple prenatal diagnosis indicators (37.349%) were more likely to be detected than single prenatal diagnosis indicators (11.091%). None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402904PMC
http://dx.doi.org/10.57264/cer-2022-0168DOI Listing

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