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| Accuracy of non-invasive prenatal testing for Turner syndrome and the clinical analysis of pregnancy decision making |
| Shenzhen Maternity and Child Health Care Hospital Affiliated to Southern Medical University, Shenzhen, Guangdong Province, 518000 |
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Abstract To assess the accuracy of expanded non-invasive prenatal testing (NIPT) for Turner syndrome, and to explore the influencing factors of the parental pregnancy decision making of the fetus with Turner syndrome (TS). Methods: The clinical data of pregnant women with single pregnancy and high-risk TS who had received extended NIPT screening in the prenatal diagnosis center from January 2013 to June 2018 were analyzed retrospectively. Results：There were 78 (0.2%) women were suspected as fetal TS in 40473 women after NIPT, and among them, there were 19 (24.4%) advanced women, 9 (11.5%) women with intermediate risk in serum screening, 9 (11.5%) women with high risk in serum screening, and 5 (6.4%) women with abnormal ultrasonic finding. Among 78 women with suspected fetal TS, 59(79.7%) women chose fetal chromosomal testing, and 15(20.3%) women refused fetal chromosomal testing. The maternal age, gestational weeks, and gravidity and parity of the women with fetal chromosomal testing were similar to the women without fetal chromosomal testing (P>0.05). In 59 pregnant women who undergone prenatal diagnosis, there were 56 (94.9%) women with amniocentesis, 2 (3.4%) women with cordocentesis,
and 1 (1.7%) woman with amniocentesis and cordocentesis. 37 (62.7%) women in 59 pregnant women who undergone prenatal diagnosis had accepted both karyotyping and chromosomal microarray (CMA), and 22 (37.7%) women had accepted karyotyping only. 61 case (including 2 newborns) had received chromosomal examination, and the results of 16 (26.2%) case were consistent with their NIPT results, and 45 (73.8%) cases, including 2 newborns, were not inconsistent with the NIPT results. The maternal age, and gravidity and parity of the cases with the consistent results of the NIPT had no significant different from those of the cases with the inconsistent results of the NIPT (P>0.05).Among 13 women who refused chromosomal examination, there were 8 women with live births, 4 women chosen terminating pregnancy due to the abnormal B-ultrasound results, and 1 woman with stillborn of unknown reasons during 20 gestational weeks. In the 16 women whose chromosomal results of the fetuses was consistent with the NIPT results, the fetuses with 45, X/46, XX chimera of 4 women had live births, and 12 women chose to terminate pregnancy. Of the 45 cases (including 2 newborns) with the inconsistent results between the chromosome of the fetuses and NIPT, 41 women had live births, 3 (7.0%) women had induced labor due to other chromosomal abnormalities, and 1 woman was stillborn of unknown causes during 28 gestational weeks. All the 53 neonates were followed up to 3 months after born, and no abnormality was found. The pregnant women with abnormal fetal ultrasound phenotype were more likely to terminate pregnancy (P=0.048), and the pregnant women with fetal karyotype of 45,X/46,XX and those women without fetal karyotype testing were more likely to continue the pregnancy (P=0.001). Conclusion: The positive predictive value (26.2%) of extended NIPT screening for TS is low, so the accuracy of screening result needs to be further improved. Abnormal fetal ultrasound phenotype and abnormal fetal karyotype influence the parental decision making of pregnancy.
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