Preliminary application analysis of expanded non-invasive prenatal testing technology for screening additional detection information
Objective To explore the clinical screening efficacy of additional detection information outside the scope of expanded non-invasive prenatal testing(NIPT-plus)report.Methods The data of 5 473 pregnant women who received NIPT-plus screening in the center of medical genetics of Northwest Women's and Children's Hospital from October 2021 to July 2022 were retrospectively analyzed.The detection of additional detection information outside the scope of NIPT-plus report was statistically analyzed.The results were verified by chromosome copy number variation sequencing(CNV-seq)of amniotic fluid cells,and the pregnancy outcome was followed up by telephone.Results The additional detection information of NIPT-plus suggested 73 cases of other chromosomal abnormalities,and the positive rate of additional results was 1.33%(73/5 473),including 14 cases of chromosome deletion and 59 cases of chromosome duplication.Forty-eight cases were verified by CNV-seq detection of amniotic fluid cells.Among them,23 cases of additional positive results screened by NIPT-plus were consistent with CNV-seq results,and the positive coincidence rate was 47.92%(23/48);25 cases were inconsistent,16 cases did not detect additional positive results screened by NIPT-plus,and 9 cases detected other chromosome copy number variation(CNV)different from the additional positive results screened by NIPT-plus,the positive non-conformity rate was 52.08%(25/48).Conclusion NIPT-plus additional detection information has some clinical value in prenatal diagnosis,but the screening efficacy is limited,NIPT-plus is still used as a screening method,if the screening result is positive,interventional prenatal diagnosis must be performed,and the comprehensive genetic counseling and risk assessment of pregnant women and fetus should be conducted in conjunction with prenatal diagnosis results and follow-up.
expanded non-invasive prenatal testingchromosome copy number variationclinical breast examination
万方数据
维普
