Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication

对3117例有羊膜穿刺指征的孕妇进行羊水核型分析及产前诊断策略

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Abstract

Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: 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. Results: 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%). Conclusion: 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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