淮北地区2 932例孕妇无创DNA产前筛查的调查分析

王素侠; 陈琼琼; 程莉

doi:10.13898/j.cnki.issn.1000-2200.2021.09.029

淮北地区2 932例孕妇无创DNA产前筛查的调查分析

Investigation and analysis of the noninvasive DNA prenatal testing in 2 932 pregnant women in Huaibei area

摘要

摘要:
目的分析淮北地区2 932例孕妇无创DNA产前筛查（NIPT）结果及其相关影响因素。
方法利用高通量测序法对胎儿游离DNA进行染色体分析，结果阳性者行羊水穿刺进行染色体核型分析确认；拷贝数变异（copy number variation，CNV）者进行染色体微陈列分析。
结果2 932例孕妇的NIPT总高风险检出率为1.43%（42/2 932）。不同年龄孕妇的三体综合征、性染色体异常和总高风险检出率差异均有统计学意义（P < 0.05~P < 0.01），CNV差异无统计学意义（P>0.05）。农村与城市地区孕妇的三体综合征和性染色体异常检出差异均无统计学意义（P>0.05），农村地区孕妇的CNV和总高风险检出率均高于城市地区孕妇（P < 0.05和P < 0.01）。
结论淮北地区NIPT以三体综合征检出为主，性染色体异常和CNV风险相对较高。

Abstract:
ObjectiveTo analyze the results of noninvasive DNA prenatal testing(NIPT) in 2 932 pregnant women in Huaibei area, and its related influencing factors.
MethodsThe high-throughput sequencing method was used to analyze the chromosome of fetal free DNA.The positive results were confirmed by amniotic fluid puncture.The chromosome microarray analysis in fetus with copy number variation(CNV) was performed.
ResultsThe overall high risk detection rate of NIPT in 2 932 pregnant women was 1.43%(42/2 932).Among different ages pregnant women, the differences of the trisomy syndrome, sex chromosome abnormalities and total high risk detection rate were statistically significant(P < 0.05 to P < 0.01), and the difference of the CNV was not statistically significant(P>0.05).There was no statistical significance in the detection rates of trisomy syndrome and sex chromosome abnormality between rural and urban pregnant women(P>0.05).The detection rates of CNV and total high risk in rural pregnant women were higher than those in urban pregnant women(P < 0.05 and P < 0.01).
ConclusionsIn Huaibei area, the main NIPT is trisomy syndrome, abnormalities and the risks of sex chromosome and CNV are relatively high.

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