摘要目的 探讨无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病(T21、T18及T13)一线筛查中的应用价值.方法 回顾性分析2017年5月至2018年6月复旦大学附属妇产科医院行NIPT检测孕妇8517例,除14例检测失败外,其余孕妇根据是否做唐氏筛查分为唐氏筛查联合NIPT检测组2996例和单纯NIPT检测组5507例.对NIPT高风险病例进行介入性产前诊断,随访妊娠结局,采用Fisher′s精确检验比较检验效能.结果 8517例孕妇中,14例(0.16％)孕妇NIPT检测失败;83例提示染色体异常,检出率0.98％(83/8503),包括29例T21、14例T18、6例T13和34例性染色体异常.唐氏筛查联合NIPT检测组共2996例,其中NIPT高风险14例,性染色体异常12例,产前诊断分别确诊11例、3例;单纯NIPT检测组5507例,NIPT高风险35例,性染色体异常22例,产前诊断确诊29例、11例.唐氏筛查联合NIPT检测组与单纯NIPT检测组相比,NIPT检测对常见染色体非整倍体的筛查效能差异无统计学意义(P=1.00),敏感度分别为11/11、29/29,特异度为99.90％(2982/2985)、99.89％(5472/5478),阳性预测值(PPV)为78.57％(11/14)、82.86％(29/35),阴性预测值(NPV)为100％(2982/2982)、100％(5472/5472).此外,NIPT检测对性染色体异常的敏感度、PPV接近100％、41.18％.随访未发现假阴性病例.结论 本研究中直接选择NIPT检测孕妇比例约64.77％(5507/8503).NIPT检测常见染色体非整倍体的筛查效能(特异度、PPV等)显著高于唐氏筛查,对性染色体异常也有一定的检出率,显著降低侵入性诊断比例.NIPT检测作为一线产前筛查具有一定临床意义,但对于NIPT高风险孕妇仍需侵入性诊断.

abstractsObjective To evaluate the value of non-invasive prenatal testing (NIPT) as first-trimester screen (FTS) for the detection of trisomies 21, 18 and 13. Methods This was a retrospective study. 8517 pregnancies who performed NIPT at Obstetrics and Gynecology Hospital of Fudan University from 2017 May to 2018 June. 14 cases (0.16％) were failed. 8503 pregnancies were divided into 2 groups:NIPT joint traditional screening, NIPT. High risk pregnancies were verified by prenatal diagnosis. Evaluate the performance of NIPT. All pregnancies were followed up. Frequencies were compared with Fisher′s exact test. Results 8517 pregnancies underwent NIPT. 14 cases (0.16％) were failed. 83 cases of remaining 8503 cases had high risk results, among which 29 were trisomy 21, 14 were trisomy 18, 6 were trisomy 13 and 34 were sex chromosome aneuploidies (SCA). In 2996 cases who underwent NIPT joint traditional screening, NIPT found 14 cases of common aneuploidies 12 cases of SCA. 11 and 3 cases were validated by invasive prenatal diagnosis, respectively. In 5507 NIPT cases, 35 cases of common aneuploidies and 22 cases of SCA were found, among which 29 and 11 cases were validated. There was no significant differences between two groups for common aneuploidies (P=1.00). The sensitivity were 11/11 and 29/29 respectively,the specificity were 99.90％(2982/2985) and 99.89％(5472/5478), the positive predictive value (PPV) were 78.57％(11/14) and 82.86％(29/35), the negative predictive value (NPV) were 100％(2982/2982) and 100％ (5472/5472), respectively. Besides, the sensitivity and PPV of NIPT for SCA were 100％ and 41.18％. No false negative was found. Conclusions The proportion of pregnancies underwent NIPT alone was 64.77％. NIPT had excellent performance (the specificity and PPV) for common aneuploidies, and also had a certain value for SCA, which greatly reduced in invasive diagnosis. NIPT is a commendable essay as a first-line prenatal screening. Invasive diagnosis is still necessary for pregnancies with high-risk of NIPT.