Wei Rong, Li Jingran, Xia Yuanyuan, Wang Chaohong, Lu Xinran, Fang Yuqin, Zhu Jiansheng
Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China.
The Fifth Clinical Medical College of Anhui Medical University, Hefei, China.
Mol Cytogenet. 2023 Sep 19;16(1):25. doi: 10.1186/s13039-023-00656-y.
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).
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).
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.
许多基于自然受孕（SP）的临床研究已证明无创产前检测（NIPT）的优越性，该技术是否适用于辅助生殖技术受孕的后代这一问题已受到关注。本研究旨在评估NIPT在体外受精（IVF）受孕孕妇中筛查21三体（T）、18三体、13三体及性染色体非整倍体（SCA）的应用价值。
SP组共有804例高危病例[0.88%（804/91280），单胎妊娠=795例，双胎妊娠=9例]。在558例行侵入性产前诊断（IPD）的病例中（单胎妊娠=556例，双胎妊娠=2例），343例（单胎妊娠=342例，双胎妊娠=1例）为真阳性，包括213例21三体、28例18三体、5例13三体及97例（单胎妊娠=96例，双胎妊娠=1例）SCA。单胎妊娠中21三体、18三体、13三体、SCA及21三体/18三体/13三体联合检测的阳性预测值（PPV）分别为89.12%（213/239）、51.85%（28/54）、21.74%（5/23）、40.00%（96/240）及77.85%（246/316），双胎妊娠中SCA的PPV为100.00%。IVF组27例高危病例[0.78%（27/3477），单胎妊娠=16例，双胎妊娠=3例]中有19例（单胎妊娠=16例，双胎妊娠=3例）行IPD，其中9例（单胎妊娠=8例，双胎妊娠=1例）为真阳性，包括5例（单胎妊娠=4例，双胎妊娠=1例）21三体及4例SCA。单胎妊娠21三体、SCA及21三体/18三体/13三体联合检测的PPV分别为66.67%（4/6）、50.00%（4/8）及57.14%（4/7），双胎妊娠21三体的PPV为100.00%（1/1）。两组单胎妊娠中21三体、SCA及21三体/18三体/13三体联合检测的PPV差异无统计学意义（89.12%对66.67%，p=0.09；40.00%对50.00%，p=0.57；77.85%对57.14%，p=0.20）。两组单胎及双胎妊娠的敏感性和特异性均较高。根据随访结果，在单胎SP组中发现1例假阴性21三体病例。此外，IVF组的平均胎儿游离DNA比例（FF）低于SP组（11.23%对10.51%，p<0.05）。
NIPT在IVF妊娠和自然妊娠中筛查染色体非整倍体具有较高的敏感性和特异性，是IVF妊娠理想的筛查方法。
