Diagnostic value of non-invasive DNA prenatal testing for fetal chromosomal aneuploidy
Objective To analyze the non-invasive DNA prenatal testing(NIPT)in high-risk pregnant women,and to explore its diagnostic value for fetal chromosomal aneuploidy.Methods Totally 1 716 high-risk pregnant women underwent NIPT in Kaifeng Obstetrics and Gynecology Hospital from January 2021 to December 2022,and those with abnormal NIPT results underwent amniocentesis for prenatal diagnosis.Taking the prenatal diagnosis of amniocentesis as gold standard,the positive predictive value of NIPT for fetal chromosome aneuploidy was calculated,and the pregnancy outcome was observed.Results Among these 1 716 pregnant women,there were 650 cases(37.88％)of advanced age,154 cases(8.97％)of high risk of Down's screening,409 cases(23.83％)of critical risk of Down's screening,93 cases(5.42％)of abnormal single value,224 cases(13.05％)who asked for examination,57 cases(3.32％)of twins,44 cases(2.56％)who received in vitro fertilization,and 88 cases(5.13％)of abnormal ultrasound results.NIPT detected fetal abnormalities in 22 cases(1.28％),including 6 cases of high risk of trisomy 21,3 cases of high risk of trisomy 18,9 cases of high risk of abnormal sex chromosome,and 4 cases of chromosome microdeletion microduplication syndrome.Among 22 cases of abnormal NIPT,17 cases underwent amniocentesis for prenatal diagnosis,confirming 13 cases(76.47％)of fetal abnormalities,and the other 5 cases received no amniocentesis including 4 cases of high risk of abnormal sex chromosome(2 cases of normal newborns,2 cases of fetal arrest)and 1 case of high risk of trisomy 21(fetal arrest).The positive predictive value of NIPT for fetal chromosome aneuploidy was 75.80％.In 6 cases of high risk of trisomy 21 by NIPT,5 were diagnosed by amniocentesis and were terminated pregnancy,1 case was aborted without amniocentesis.In 3 cases of high risk of trisomy 18 by NIPT,all were confirmed by amniocentesis and were terminated pregnancy.In 9 cases of high risk of abnormal sex chromosome,5 cases were diagnosed by amniocentesis including 1 case of super-female syndrome with fetal preservation,1 case of Klinefelter syndrome with termination of pregnancy,and 3 cases with normal results.In 4 cases of chromosome microdeletion and microduplication syndrome by NIPT,3 cases of pathogenic variation were confirmed by amniocentesis and were terminated pregnancy,and 1 case of twins with normal fetuses and normal newborns.Conclusion NIPT has a high value to the prenatal diagnosis of fetal chromosomal aneuploidy,and can be used as an auxiliary prenatal diagnosis method to avoid unnecessary amniocentesis.
chromosome aneuploidfetusnon-invasive DNA prenatal testingbirth defectsamniocentesisprenatal diagnosis
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