Application of non-invasive prenatal testing in fetal sex chromosome abnormality screening
Objective To explore the application of non-invasive prenatal testing(NIPT)in fetal sex chromosome abnormality screening.Methods Seventy-three pregnant women indicated by NIPT as sex chromosome abnormality,who underwent interventional prenatal diagnosis in Jiaxing Maternity and Child Health Care Hospital from January 2019 to December 2022,were enrolled in the study.The results of NIPT and interventional prenatal diagnosis were compared and analyzed.Results Among 73 pregnant women,there were 34 cases with increased sex chromosomes and 39 cases with decreased sex chromosomes as diagnosed by NIPT.Among 71 pregnant women who underwent chromosomal karyotype analysis,33 cases had abnormal karyotype.Among 65 pregnant women who underwent chromosomal microarray analysis,37 had abnormal microarray results.In pregnant women with NIPT-suggested chromosome increase,the positive coincidence rate of NIPT with chromosome karyotype analysis was 69.70％,and that with chromosome microarray analysis was 70.00％.In pregnant women with NIPT-suggested chromosome reduction,the positive coincidence rate of NIPT with chromosome karyotype analysis was 23.68％,and that with chromosome microarray analysis was 20.00％.Among the pregnant women with NIPT suggested chromosome abnormalities,there was 1 case with abnormal chromosome as indecated by chromosomal karyotype analysis but it was inconsistent with NIPT results,and 9 case with abnormal chromosome as indicated by chromosomal microarray analysis but it was inconsistent with NIPT results.Among 63 pregnant women who underwent both chromosomal karyotype analysis and chromosomal microarray analysis,26 cases were consistent with NIPT results,37 cases were inconsistent with NIPT results(including 23 cases with negative chromosome karyotype analysis and chromosome microarray analysis,8 cases with negative chromosome karyotype analysis and positive chromosome microarray analysis,4 cases with negative chromosome microarray analysis and positive chromosome karyotype analysis,2 cases with chromosome abnormality but inconsistent results between chromosome karyotype analysis and chromosome microarray analysis).Conclusion NIPT can be used in screening for fetal sex chromosome abnormalities,while interventional prenatal diagnosis should be recommended for further diagnosis.
万方数据
维普
