背景:许多基于自发妊娠(SP)的临床研究已经证明了非侵入性产前检测(NIPT)的优越性,该技术是否适合辅助生殖技术育成的后代的问题引起了人们的关注。本研究旨在评价NIPT在体外受精(IVF)妊娠孕妇中筛查T21、T18、T13三体和性染色体非整倍体(SCA)的应用价值。
结果:总计,有804例高风险病例[0.88%(804/91280),SP组中单例=795,孪生=9]。在558例有创产前诊断(IPD)病例中(单例=556,双胎=2),343(单例=342,双胞胎=1)为真阳性,包括213例T21、28例T18、5例T13和97例SCA(单例=96,双胞胎=1)。T21,T18,T13,SCA和T21/T18/T13联合在单胎妊娠中的阳性预测值(PPVs)为89.12%(213/239),51.85%(28/54),21.74%(5/23),40.00%(96/240),和77.85%(246/316),分别,双胎妊娠SCA的PPV为100.00%。在IVF组中,在27例高危病例中的19例(单例=16,双胞胎=3)进行了IPD[0.78%(27/3477),单例=16,孪生=3],其中9个(单例=8,孪生=1)为真阳性,包括T21和SCA4例(单例=4,双例=1)5例。单例T21、SCA和T21/T18/T13合并的PPVs为66.67%(4/6),50.00%(4/8)和57.14%(4/7),分别,孪生T21的PPV为100.00%(1/1)。T21,SCA和T21/T18/T13合并的PPV在组间单身患者中没有显着差异(89.12%vs.66.67%,p=0.09;40.00%vs.50.00%,p=0.57;77.85%vs.57.14%,p=0.20)。两组单胎和双胎妊娠的敏感性和特异性均较高。根据后续结果,在单例SP组中发现1例T21假阴性。此外,IVF组的平均胎儿分数(FF)低于SP组(11.23%vs.10.51%,p<0.05)。
结论:NIPT在IVF妊娠和自然妊娠的染色体非整倍体筛查中具有较高的敏感性和特异性,因此,它是IVF妊娠的理想筛查方法。
BACKGROUND: Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring conceived by assisted reproductive technology has attracted attention. This study aimed to evaluate the application value of NIPT in screening for trisomy (T)21, T18, T13 and sex chromosome aneuploidy (SCA) in pregnant women who conceived by in vitro fertilization (IVF).
RESULTS: In total, there were 804 high-risk cases [0.88% (804/91280), singleton = 795, twin = 9] in the SP group. Among the 558 invasive prenatal diagnosis (IPD) cases (singleton = 556, twin = 2), 343 (singleton = 342, twin = 1) were true positive, including 213 cases of T21, 28 of T18, 5 of T13 and 97 (singleton = 96, twin = 1) of SCA. The positive predictive values (PPVs) of T21, T18, T13, SCA and T21/T18/T13 combined in singleton pregnancy were 89.12% (213/239), 51.85% (28/54), 21.74% (5/23), 40.00% (96/240), and 77.85% (246/316), respectively, and the PPV of SCA in twin pregnancy was 100.00%. In the IVF group, IPD was performed in 19 (singleton = 16, twin = 3) of the 27 high-risk cases [0.78% (27/3477), singleton = 16, twin = 3], of which 9 (singleton = 8, twin = 1) were true positive, including 5 cases (singleton = 4, twin = 1) of T21 and 4 of SCA. The PPVs of singleton T21, SCA and T21/T18/T13 combined were 66.67% (4/6), 50.00% (4/8) and 57.14% (4/7), respectively, and the PPV of twin T21 was 100.00% (1/1). There were no significant differences in PPV among T21, SCA and T21/T18/T13 combined in singletons between the groups (89.12% vs. 66.67%, p = 0.09; 40.00% vs. 50.00%, p = 0.57; 77.85% vs. 57.14%, p = 0.20). The sensitivity and specificity were higher for singleton and twin pregnancies in the two groups. Based on follow-up results, 1 case of false negative T21 was found in the singleton SP group. Additionally, the mean foetal fraction (FF) of the IVF group was lower than that of the SP group (11.23% vs. 10.51%, p < 0.05).
CONCLUSIONS: NIPT has high sensitivity and specificity in screening chromosomal aneuploidies in both IVF pregnancy and spontaneous pregnancy, so it is an ideal screening method for IVF pregnancy.