Objective To explore the application value of noninvasive prenatal testing(NIPT-plus) in the diagnosis of fetal chromosomal abnormalities. Methods The pregnant women who received NIPT-plus test in the prenatal screening clinic of Huangshan Maternal and Child Health and Family Planning Service Center from March to December 2020 were selected as the research subjects.The pregnant women who were at high risk of the test results were given full genetic consultation, and NIPT plus and prenatal fetal karyotype were analyzed by follow-up. Results Among the 1272 pregnant women tested by NIPT-plus, 47 cases were found to have high risk, including 4 cases of 21 trisomy, 4 cases of 18 trisomy, 5 cases of sex chromosome aneuploidy, 30 cases of microdeletion and microduplication(CNV) and 4 cases of other chromosomal abnormalities.Among pregnant women with different screening indicators, the detection rate of high risk had statistical significance(χ2=8.11, P<0.05), and the group with serological abnormality(Abnormal Tang screening) had the highest detection rate which was 4.62%.Forty-seven high-risk pregnant women underwent karyotype analysis of sheep penetration fetus in 36 cases, the diagnosis rate was 76.60%, and the positive predictive value of trisomy 21 was 66.67%.The positive predictive value of trisomy 18 was 25.00%, the positive predictive value of sex chromosome aneuploidy was 50.00%, the positive predictive value of sex chromosome aneuploidy was 18.18%, and the positive predictive value of other chromosome aneuploidy was 33.33%. Conclusion The NIPT-plus test has a high screening effect in the diagnosis of trisomy 21, trisomy 18 and abnormal number of sex chromosomes in fetuses, and has certain value in the diagnosis of microdeletion and microduplication syndrome.
Key words
Pregnancy /
Noninvasive prenatal Testing /
Prenatal diagnosis
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