Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. Materials and methods We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected. Results In total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age. Conclusion NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.
Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.
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.
Objective: To assess the positive predictive value (PPV) of non-invasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decision in positive cases. Materials and Methods: We retrospectively analyzed 45773 singleton pregnancies with different characteristics that were subjected to NIPT in Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and pregnancy outcomes were collected.Results: A total of 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 resulted as true-positive. Overall, the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when screening only pregnant women in advanced maternal age (AMA), the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 23.81%, 53.33%, 78.95%, and 66.67%, respectively. AMA was a high-risk predictor of having a fetus with SCA. The frequencies of 47, XXX, and 47,XXY were significantly correlated with maternal age.Conclusion: NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive fetus were more eager to terminate pregnancy compared to those with 47,XXX and 47, XYY. Our findings may assist in genetic counseling of AMA pregnant women. Our Pre- and post-test counseling are essential for familiarizing pregnant women with the benefits and limitations of the NIPT, which may ease their anxiety and provide them with the informed choice for further diagnosis and pregnancy decision.
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