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《China Medical Engineering》 2013-04
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Clinical value of screening fetal aneuploidy using a combination of maternal serum examination and massively parallel sequencing based non-invasive prenatal diagnosis

QIU Jie,YANG Xiao-hua,FANG Hong,et al(Shenzhen Baoan Maternal and Child Health Hospital,Shenzhen,Guangdong 518133,P.R.China)  
【Objective】To study the clinical value of screening fetal aneuploidy,using a combination of maternal serum examination and massively parallel sequencing(MPS) based non-invasive prenatal diagnosis(NIPD).It improves the ability to identify chromosomal abnormalities for decreasing the birth defect.【Methods】The study included 23039 pregnancies between the 9th and 20+6th gestational week,who underwent screening by Time-resolved fluoroimmunoassay technology with maternal serum alpha-fetoprotein(AFP)and free beta-subunit of human chorionic gonadotropin(free beta-hCG) in the first trimester,Free Estriol(E3)is added in the second-trimester.The risk of trisomy 21 and trisomy 18 was estimated by software Multicalc,based on a model which generated the final risk for fetal aneuploidies from the pregnant woman's a priori age risk and the likelihood ratio of the distribution of the biochemical markers,according to the gestational weeks.The cut-off value of the final risk or = 1:270 for trisomy 21 and 1:350 for trisomy 18.【Resluts】Screening tests identified 6.71%(n=1546)high-risk pregnancies and 14.17%(n=3257) critical risk pregnancies in this group.59.17%(n=2842)and 11.54%(n=550) of the patients consented to non-invasive and invasive diagnosis respectively.27 fetal chromosomal abnormalities were detected,of whom,0.39%(n=19) were identified to chromosomal aneuploidies and 0.16%(n=8) were other abnormalities.According to the feedback of fetal delivery,7 cases of refused prenatal diagnosis were diagnosed as birth defect.【Conclusion】A combination of maternal serum examination and massively parallel sequencing based non-invasive prenatal diagnosis improve the effect of prenatal diagnosis.It improves the ability to decrease the birth defect.Compared to the invasive diagnosis,massively parallel sequencing based non-invasive prenatal diagnosis is safe and convenient for detecting fetal aneuploidy.
【Fund】: 深圳市科技计划项目(201103048)
【CateGory Index】: R714.55
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