Clinical significance of non-invasive prenatal testing in preventing birth defects / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To assess the performance of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies and its value for the prevention of birth defects.@*METHODS@#In total 28 033 pregnant women underwent NIPT test. The results were compared with that of amniotic fluid and cord blood chromosomal karyotyping analysis. A few cases were verified by array comparative genome hybridization (aCGH). All pregnant women and their fetuses were followed up until after birth.@*RESULTS@#NIPT has indicated a high risk for fetal chromosomal aneuploidies in 186 cases (0.66%), among which 101 (67.33%) were confirmed as 21, 18 and 13 trisomies by invasive prenatal diagnosis, which yielded a diagnostic rate of 86.52%, 50.00% and 19.05%, respectively. The diagnostic rates were 81.28%, 67.85%, 62.79% and 76.00% respectively for those ≥40, ≥35, 25 to 34, and <25. And the diagnostic rates were 65.91%, 60.78%, 71.79% and 80.00% for those over 35, with high risk by prenatal screening, critical risk by prenatal screening and ultrasound abnormality, respectively.@*CONCLUSION@#The NIPT is effective for screening common chromosomal aneuploidies and preventing births of neonates with trisomy 21, trisomy 18 and trisomy 13.