背景:随着NIPT在中国的使用越来越广泛,NIPT变得越来越重要。关于母体危险因素与胎儿非整倍体之间的相关性,迫切需要更多的细节,以及这些因素如何影响产前非整倍体筛查的准确性。
方法:收集有关孕妇的信息,包括产妇年龄,胎龄,特定病史和产前非整倍体筛查结果。此外,OR,还计算了有效性和预测值。
结果:共收集了12,186份可分析的核型报告,其中372例(3.05%)胎儿非整倍体,包括161个(1.32%)T21、81个(0.66%)T18、41个(0.34%)T13和89个(0.73%)SCA。20岁以下产妇的OR最高(6.65),其次是40岁以上(3.59岁)和35-39岁(2.48岁)。40岁以上组T13(16.95)和T18(9.40)频率更高(P<0.01);35-39组T13(3.62/5.76)和SCAs(2.49/3.95)频率更高(P<0.01)。有胎儿畸形史的病例有最高的OR(35.94),其次是RSA(13.08):前者更可能发生T13(50.65)(P<0.01),后者更可能发生T18(20.50)(P<0.01)。初筛的敏感性为73.24%,NPV为98.23%。NIPT的TPR为100.00%,T21、T18、T13和SCA的PPV分别为89.92、69.77、53.49和43.24%,分别。NIPT的准确性随着胎龄的增加而增加(0.81)。相比之下,NIPT的准确性随着产妇年龄(1.12)和IVF-ET病史(4.15)而降低。
结论:①20岁以下孕妇发生非整倍体的风险较高,尤其是T13;②胎儿畸形病史比RSA风险更大,前者更可能患有T13,后者更可能患有T18;③初筛基本上实现了鉴定正常核型的目标,和NIPT可以准确筛查胎儿非整倍体;④多种母体危险因素可能影响NIPT诊断的准确性,包括年龄较大,过早测试,或IVF-ET的历史。总之,本研究为优化产前非整倍体筛查策略和提高人群质量提供了可靠的理论依据。
BACKGROUND: NIPT is becoming increasingly important as its use becomes more widespread in China. More details are urgently needed on the correlation between maternal risk factors and fetal aneuploidy, and how these factors affect the accuracy of prenatal aneuploidy screening.
METHODS: Information on the pregnant women was collected, including maternal age, gestational age, specific medical history and results of prenatal aneuploidy screening. Additionally, the OR, validity and predictive value were also calculated.
RESULTS: A total of 12,186 analysable karyotype reports were collected with 372 (3.05%) fetal aneuploidies, including 161 (1.32%) T21, 81 (0.66%) T18, 41 (0.34%) T13 and 89 (0.73%) SCAs. The OR was highest for maternal age less than 20 years (6.65), followed by over 40 years (3.59) and 35-39 years (2.48). T13 (16.95) and T18 (9.40) were more frequent in the over-40 group (P < 0.01); T13 (3.62/5.76) and SCAs (2.49/3.95) in the 35-39 group (P < 0.01). Cases with a history of fetal malformation had the highest OR (35.94), followed by RSA (13.08): the former was more likely to have T13 (50.65) (P < 0.01) and the latter more likely to have T18 (20.50) (P < 0.01). The sensitivity of primary screening was 73.24% and the NPV was 98.23%. The TPR for NIPT was 100.00% and the respective PPVs for T21, T18, T13 and SCAs were 89.92, 69.77, 53.49 and 43.24%, respectively. The accuracy of NIPT increased with increasing gestational age (0.81). In contrast, the accuracy of NIPT decreased with maternal age (1.12) and IVF-ET history (4.15).
CONCLUSIONS: ①Pregnant patients with maternal age below 20 years had higher risk of aneuploidy, especially in T13; ②A history of fetal malformations is more risky than RSA, with the former more likely to have T13 and the latter more likely to have T18; ③Primary screening essentially achieves the goal of identifying a normal karyotype, and NIPT can accurately screen for fetal aneuploidy; ④A number of maternal risk factors may influence the accuracy of NIPT diagnosis, including older age, premature testing, or a history of IVF-ET. In conclusion, this study provides a reliable theoretical basis for optimizing prenatal aneuploidy screening strategies and improving population quality.