无创产前检测10号染色体异常结果分析

李怡 蔡婵慧 卢建 郭芳芳 侯亚萍 杨洁霞

【摘要】目的 探讨无创产前检测（NIPT）技术在筛查胎儿10号染色体非整倍体和片段性非整倍体的临床应用价值。方法 收集NIPT提示为10号染色体非整倍体和片段性非整倍体异常的孕妇共24例，其中有21 例孕妇接受介入性产前诊断，进行染色体核型分析和（或）染色体微阵列分析。根据临床资料，结合血清学唐氏综合征筛查、介入性产前诊断、妊娠结局随访等结果对所有病例进行综合分析。结果 21例的介入性产前诊断结果中，10号染色体异常6例，阳性预测值为29%（6/21）。6例确诊的10号染色体异常病例中，1例失访，1例产后拒访，3例引产终止妊娠，1例经剖腹产生育一2.8 kg女孩，随访发育正常。结论 NIPT在筛查胎儿10号染色体异常方面有一定的价值，但需要进一步的染色体核型分析和（或）染色体微阵列分析验证。

【关键词】无创产前基因检测;10号染色体;单亲二体

Application of non-invasive prenatal testing in screening of fetal chromosome 10 abnormalities： a report of 24 cases Li Yi， Cai Chanhui， Lu Jian， Guo Fangfang， Hou Yaping， Yang Jiexia. Medical Genetics Center， Guangdong Women and Children Hospital， Guangzhou 511400， China

Corresponding author， Yang Jiexia， E-mail：  yixfimmu@126.com

【Abstract】Objective To investigate the clinical application of non-invasive prenatal testing （NIPT） in the screening of fetal chromosome 10 aneuploidy and fragmented aneuploidy. Methods A total of 24 pregnant women with chromosome 10 aneuploidy and fragmented aneuploidy by NIPT were recruited in this study. Among them， 21 pregnant women received interventional prenatal diagnosis for chromosome karyotype analysis and/or chromosome microarray analysis. Comprehensive analyses of all cases were conducted according to the clinical data combined with the results of serological Down’s syndrome screening， interventional prenatal diagnosis， and pregnancy outcome follow-up. Results Among the 24 cases with chromosome 10 abnormalities indicated by NIPT， 21 of them received interventional prenatal diagnosis. Prenatal diagnosis results showed that 6 of them were diagnosed with chromosome 10 abnormalities， and the positive predictive value was 29% （6/21）. Among the 6 confirmed cases with chromosome 10 abnormalities， one case was lost to follow-up， one case refused follow-up after delivery， three cases were induced to terminate pregnancy. And one case delivered a girl weighed 2.8 kg by cesarean section and normal development was reported during subsequent follow-up. Conclusion NIPT has certain value in the screening of fetal chromosome 10 abnormalities， whereas further karyotype analysis and/or chromosome microarray analysis are required for verification.

【Key words】Non-invasive prenatal testing; Chromosome 10; Uniparental disomy

我國是出生缺陷的高发国家，《中国出生缺陷防治报告（2012）》统计显示，我国出生缺陷的发生率约为5.6%。染色体异常是导致出生缺陷重要原因，目前尚无有效治疗手段。近年来，无创产前检测（NIPT）在临床的应用发展迅速，该技术相比于介入性产前诊断具有无创的优势。目前多项研究已表明，NIPT对于21-三体 、18-三体和13-三体综合征具有良好的检测效能，而对于性染色体异常及其他常染色体异常也具有一定的检测价值，但仍需积累足够的临床数据及进一步的介入性产前诊断验证[1]。目前国内外针对NIPT其他染色体异常罕有大数据分析，因此临床上对于NIPT提示其他染色体异常病例的处理颇为棘手[2]。……