CAJ | 학술논문

目的：探讨江苏省无创产前检测（non-invasive prenatal testing，NIPT）的指征构成及检出结果。方法汇总2012年1月1日至2013年12月31日江苏省9所医疗机构的13041例NIPT检测结果，进行回顾性分析。所有病例均为单胎妊娠、自然受孕。NIPT检测范围包括13、18和21号染色体及性染色体非整倍体。对NIPT高风险孕妇，建议行介入性产前诊断及胎儿染色体核型分析。评估孕妇行NIPT的指征构成比和NIPT阳性预测值。结果13041例行NIPT的孕妇中，报告21、18、13-三体和X染色体数目异常高风险分别为88例（0.67%）、19例（0.15%）、9例（0.07%）和64例（0.49%），进一步行染色体核型分析的例数分别为74、13、8和44例，确诊为21、18、13-三体和X染色体数目异常的例数分别为67、12、1和18例，阳性预测值分别为90.5%（67/74）、12/13、1/8和40.9%（18/44）。1例孕妇血清学筛查提示18-三体高风险，但NIPT报告21-三体高风险，核型分析确诊为18-三体，引产胎盘的染色体核型分析为21和18-三体嵌合体。血清学筛查高风险为最常见NIPT指征，构成比为46.4%（6056/13041），其次为血清学筛查低风险但孕妇要求检测（28.9%，3773/13041）和高龄（20.5%，2673/13041）。结论江苏省孕妇行NIPT的主要指征为血清学筛查高风险、低风险但孕妇要求检测和高龄。NIPT对21-三体和18-三体具有较高的阳性预测值，但对13-三体和X染色体数目异常的阳性预测值较低。
목적：탐토강소성무창산전검측（non-invasive prenatal testing，NIPT）적지정구성급검출결과。방법회총2012년1월1일지2013년12월31일강소성9소의료궤구적13041례NIPT검측결과，진행회고성분석。소유병례균위단태임신、자연수잉。NIPT검측범위포괄13、18화21호염색체급성염색체비정배체。대NIPT고풍험잉부，건의행개입성산전진단급태인염색체핵형분석。평고잉부행NIPT적지정구성비화NIPT양성예측치。결과13041례행NIPT적잉부중，보고21、18、13-삼체화X염색체수목이상고풍험분별위88례（0.67%）、19례（0.15%）、9례（0.07%）화64례（0.49%），진일보행염색체핵형분석적례수분별위74、13、8화44례，학진위21、18、13-삼체화X염색체수목이상적례수분별위67、12、1화18례，양성예측치분별위90.5%（67/74）、12/13、1/8화40.9%（18/44）。1례잉부혈청학사사제시18-삼체고풍험，단NIPT보고21-삼체고풍험，핵형분석학진위18-삼체，인산태반적염색체핵형분석위21화18-삼체감합체。혈청학사사고풍험위최상견NIPT지정，구성비위46.4%（6056/13041），기차위혈청학사사저풍험단잉부요구검측（28.9%，3773/13041）화고령（20.5%，2673/13041）。결론강소성잉부행NIPT적주요지정위혈청학사사고풍험、저풍험단잉부요구검측화고령。NIPT대21-삼체화18-삼체구유교고적양성예측치，단대13-삼체화X염색체수목이상적양성예측치교저。
Objective To determine the clinical indications and detection efficiency of non-invasive prenatal testing (NIPT) in Jiangsu Province, China. Methods A total of 13 041 pregnant women from nine hospitals in Jiangsu Province who voluntarily accepted NIPT for chromosome 13, 18, 21 and sex chromosome from January 1, 2012 to December 31, 2013 were analyzed retrospectively. All cases were singleton pregnancies and spontaneously conceived. Invasive prenatal diagnosis followed by fetal chromosome karyotype analysis was recommended in high-risk women following NIPT. The clinical indications and positive predictive value of NIPT were conducted. Results NIPT detected 88, 19, 9 and 64 cases at high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy, and the positive rate was 0.67%, 0.15%, 0.07% and 0.49%, respectively. Among the 74, 13, 8 and 44 high-risk cases who accepted chromosome karyotype analysis, respectively, 67 cases were diagnosed with trisomy 21, 12 cases with trisomy 18, one case with trisomy 13, and 18 cases with numerical X chromosome abnormality. The positive predictive value was 90.5% (67/74), 12/13, 1/8 and 40.9% (18/44), respectively. One pregnant woman who was reported as high-risk trisomy 21 following NIPT, but high-risk trisomy 18 at prior serum screening, was eventually diagnosed with fetal trisomy 18 by chromosome karyotype analysis, whose placenta was a mosaic of trisomy 21 and trisomy 18. High-risk following serum screening was the most common indication for NIPT accounting for 46.4% (6 056/13 041), followed by low-risk but asking for testing (28.9%, 3 773/13 041) and advanced age (20.5%, 2 673/13 041). Conclusions High-risk, low-risk but asking for testing and advanced maternal age are common indications for NIPT in Jiangsu Province. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.