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| Analysis of NIPT test results and pregnancy outcomes of 984 advanced pregnant women |
| 1.Wuhu Maternal and Child Health Care Hospital,Wuhu, Anhui Province, 241001；2.Anhui Maternal and Child Health Care Hospita |
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Abstract To explore the value of non-invasive prenatal genetic testing (NIPT) for diagnosing prenatal fetal abnormal chromosome of advanced pregnant women. Methods: From September 2018 to January 2020, a retrospective analysis was made on 984 advanced pregnant women who volunteered to undergo NIPT test. Amniocentesis and chromosome karyotype analysis were performed in women with abnormal chromosome detected by NIPT. The pregnancy outcomes of these advanced pregnant women were followed up by telephone. Results: There were 14 (1.42%) pregnant women with chromosomal abnormalities by NIPT, which included 4 cases with trisomy 21, 3 cases with trisomy 18, 2 cases with trisomy 13, 3 cases with abnormal sex chromosome, and no other abnormal chromosomes. The positive predictive value of NIPT for screening fetal abnormal chromosome were 75.0%, 66.7%, 100%, 75.0%, and 0%, respectively. After followed up, 9 women in 10 women with fetal chromosome abnormality identified by antenatal diagnosis had experienced termination of pregnancy, which included 3 cases with fetal trisomy 21 (47，XN，+21), 2 cases with fetal trisomy 18 (47，XN，+18), 2 cases with fetal trisomy 13 (47，XN，+13), 1 case with fetal abnormal X chromosome (45，X), and 1 case with fetal abnormal Y chromosome (47，XXY). 1 women with fetal abnormal X chromosome (47，XXX) continued to pregnancy, which’s newborn was normal. All 4 women with fetal normal chromosome (46, XN) by antenatal diagnosis had delivered normal newborns. Conclusion：NIPT has good screening value for advanced pregnant women, but it suggests that pregnant women with suspected fetal abnormal chromosome should be given interventional prenatal detection, so as to avoid false positive or unnecessary induced labor.
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