【摘要】 目的:探讨无创性产前基因检测技术应用于胎儿染色体非整倍体的检出效率。方法:选择2011年11月~2013年9月在深圳市第二人民医院产科门诊就诊的孕妇,纳入标准为高龄妊娠、有分娩过先天严重缺陷婴儿的、羊水异常、不明原因多次流产史、唐氏筛查高风险或者临界风险和(或)经彩超检查提示胎儿有异常等同意无创基因检测的孕妇,共7 517例,其中包括孕期适时行血清学筛查5 712例(包括筛查高风险3 437例,临界风险1 410例,筛查低风险865例)未行血清学筛查的1 805例。经过产前基因检测为阳性的孕妇再行细胞培养染色体核型分析,作为最终的确诊依据。检测结果为阴性的孕妇,经出生后观察随访,确定有无漏诊率。通过两组阳性结果的比较及出生后的观察随访情况来衡量无创产前基因检测的检查胎儿非整倍体疾病的准确度,来判断其临床应用价值。结果:实施无创产前基因检查7 517例,阳性结果为99例,其中21三体综合征为41例,18三体综合征为7例,13三体综合征为3例,性染色体异常为27例,其他染色体异常21例,阴性为7 418例;阳性结果以羊水或脐血穿刺染色体核型分析的结果为金标准进行结果对照,21三体综合征与18三体综合征中各有1例假阳性,13三体综合征无假阳性,性染色体非整倍体与其他染色体假阳性较多,很多孕妇部分拒绝进一步行羊水穿刺或脐血穿刺等有创检查,数据不完整。检查结果阴性的孕妇,经产后随访无漏诊率。结论:无创产前胎儿非整倍体基因检测可提高产前诊断效率,减少患儿的出生,是快捷、安全、较介入性产前诊断易于接受、值得推广的安全可靠的产前诊断方法,是今后发展的必然趋势。更多还原

【Abstract】 Objective:To explore the efficiency of non- invasive prenatal genetic testing for fetal chromosomal aneuploidy.Methods:A total of 7 517 pregnant women treated in obstetrical department of the hospital from November 2011 to September 2013 were selected,including 5 712 women receiving serological screening during pregnancy timely(3 437 women with high risk of screening,1 410 women with crossover risk of screening and 865 women with low risk of screening).Inclusion criteria:advanced age,giving birth to infants with severe birth defects,abnormal amniotic fluid,having unexplained multiple abortion history,high risk or crossover risk of Down’s syndrome screening and(or) fetal abnormality indicated by color ultrasonography,agreeing with non- invasive prenatal genetic testing.After non- invasive prenatal genetic testing,the pregnant women with positive result underwent cell culture and chromosomal karyotyping,which were designed as the final criteria for definite diagnosis of fetal chromosomal aneuploidy;the postpartum women with negative result were observed and followed up to confirm missed diagnosis or not.The accuracy of non- invasive prenatal genetic testing for fetal chromosomal aneuploidy was evaluated by comparing the positive results of the two groups and observing,following the situations after delivery,and then its clinical application value was determined.Results:A total of 7 517 pregnant women underwent non- invasive prenatal genetic testing,99 pregnant women were found with positive result,including 41 pregnant women with trisomy 21,7 pregnant women with trisomy 18,3 pregnant women with trisomy 13,27 pregnant women with sex chromosomal abnormality,21 pregnant women with autosomal abnormality;7 418 pregnant women were found with negative result.The results of chromosomal karyotyping after amniocentesis or umbilical cord blood puncture were designed as gold standard;among the women with trisomy 21,one woman was false positive;among the women with trisomy 18,one woman was false positive;no false positive was found among the women with trisomy 13,false positive was common in women with sex chromosomal abnormality and autosomal abnormality;many pregnant women refused to further receive amniocentesis or umbilical cord blood puncture,so the data was incomplete.no missed diagnosis was found among the pregnant women with negative result during follow- up after delivery.Conclusion:Non- invasive prenatal genetic testing can improve the diagnostic efficacy before delivery,reduce the birth of ill infants,and it is a quick,safe,easy- accepted and reliable prenatal diagnostic method,which is worthy to be popularized and inexorable trend of development in the future.更多还原