分类号：R446.11
出版年·卷·期（页码）：2013·5·第2期（18-21）
DOI:
20130206
-----摘要：-------------------------------------------------------------------------------------------
目的 探讨孕期血清学筛查联合无创性产前胎儿染色体非整倍体基因检测技术，应用于胎儿染色体非整倍体异常检出效率。方法 孕期适时行血清学筛查23 039例。采用时间分辨免疫荧光法检测，唐氏早、中期筛查，应用Multicalc软件评估出高风险，临界风险、单项生化指标异常，知情选择无创基因检测。结果 筛查出高风险1546例，占6.71%，临界风险值3257例，占14.17%，单项值异常3018例，占15.86，实施无创产前诊断3342例占61.23%，介入性产前诊断550例，占11.54%。产前诊断确诊胎儿染色体异常共27例，其中非整倍体19例，占0.39%，其他染色体异常8例，占0.16%，知情告知签字不落实产前诊断发生出生缺陷7例。调查表明，临界风险选择无创基因检测样本例数占61.23% ，羊水样本例数占11.54%，无创检测高风险数经羊水再次核型分析一致性达100%。结论 血清学产前筛查联合无创产前胎儿非整倍体DNA检测可提高产前诊断效率，特别对临界风险值瓶颈线的突破起关键性作用，降低胎儿染色体非整倍体病率，是快捷、安全、较介入性产前诊断易于接受、大批量进行、值得推广是今后发展的必然趋势。
-----英文摘要：---------------------------------------------------------------------------------------
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. Method The study included 23 039 pregnancies between the 9th and 20+6th gestational week, who underwent Down's syndrome screening by time-resolved fluoroimmunoassay technology with maternal serum biomarkers in the first trimester and second trimester. The risk of trisomy 21 and trisomy 18 was estimated by software Multiaale, 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 pregnancies assessed with high risk, critical risk and abnormal single biochemical indices chosed noninvasive genetic testing with informed consent. Results 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. Conclusions 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.
-----参考文献：---------------------------------------------------------------------------------------
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邱洁,杨晓华,方虹,张红云,马竞,陈熙,吴琼玲.血清学筛查联合胎儿非整倍体产前无创基因检测临床应用价值的研究.中国产前诊断杂志,2013,5(2):18-21.
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