Applications of non-invasive prenatal testing in 91280 spontaneous pregnancies and 3477 pregnant women undergoing in vitro Fertilization

Abstract

Background A large number of clinical studies based on spontaneous pregnancies (SP) have proved the superiority of non-invasive prenatal testing (NIPT), and whether this technology is suitable for the offspring of assisted reproductive technology (ART) has attracted people's attention. The aim of this study is to evaluate the application value of NIPT in screening for trisomy21(T21), trisomy18(T18), trisomy13(T13) and sex chromosome aneuploidy (SCA) in pregnant women underwent in vitro fertilization (IVF). Results A total of 804 cases (0.88% (804/91280), singleton = 795, twin = 9) of high-risk in the SP group, of the 558 cases (singleton = 556, twin = 2) that underwent invasive prenatal diagnosis (IPD), 343 cases (singleton = 342, twin = 1) were true positive, including 213 cases T21, 28 cases T18, 5 cases T13 and 97 cases (singleton = 96, twin = 1) SCA. The positive predictive value (PPV) of T21, T18, T13 and SCA in singleton pregnancies were 89.12% (213/239), 51.85% (28/54), 21.74% (5/23) and 40.00% (96/240), and the PPV of SCA in twin pregnancies was 100.00%. In the in vitro fertilization (IVF) group, IPD was underwent in 19 cases (singleton = 16, twin = 3) of the 27 cases (0.78% (27/3477), singleton = 16, twin = 3) high-risk, of which 9 cases (singleton = 8, twin = 1) were true positive, including 5 cases (singleton = 4, twin = 1) T21 and 4 cases of SCA. The PPV of singleton T21 and SCA was 66.67% (4/6) and 50.00% (4/8), and the PPV of twin T21 was 100.00% (1/1). There was no significant difference in sensitivity and specificity between the two groups. Based on follow-up, we found 1 case of T21 false negative results in SP group and no false negative case in IVF group. Additionally, the mean fetal fraction (FF) of IVF group was lower than that of SP group (11.23%vs.10.51%, p < 0.05). Conclusion NIPT has high sensitivity and specificity in screening chromosomal aneuploidies in both IVF pregnant women and spontaneous pregnancies pregnant women, so it is an ideal screening method for IVF pregnant women.