国际生殖健康/计划生育杂志2024，Vol.43Issue(4)：279-283,5.DOI:10.12280/gjszjk.20240077
无创产前筛查技术在罕见常染色体三体及染色体拷贝数变异的临床效果分析
Clinical Effect of Noninvasive Prenatal Screening Techniques for Rare Autosomal Trisomies and Chromosome Copy Number Variation
摘要
Abstract
Objective:To explore the clinical significance of noninvasive prenatal screening(NIPS)in screening the rare autosomal trisomies(RAT)and chromosome copy number variation(CNV).Methods:The amniotic fluid karyotype analysis and single nucleotide polymorphism array were performed at the Prenatal Diagnostic Center of Quanzhou Women's and Children's Hospital from March 2017 to July 2023,in 108 cases that NIPS suggested high risk of RAT and(or)CNV.Results:In the 83 cases of NIPS suggesting high risk of RAT,15 abnormal RAT were found by prenatal diagnosis,with a positive predictive value of 18.07％.There were 1 pathogenic copy number variants(pCNV),9 variants of uncertain significance(VOUS),4 loss of heterozygosity(LOH)and 1 VOUS+LOH.In 25 cases of NIPS suggesting high risk of CNV,16 abnormal CNV were indicated by prenatal diagnosis,with a positive predictive value of 64.00％.There were 11 pCNV,1 likely pathogenic copy number variants(lpCNV)and 4 VOUS.Conclusions:The positive predictive value of NIPS is not high in RAT,but the high risk of RAT is associated with the increasing adverse pregnancy outcomes.NIPS has a certain application value for the high risk screening of CNV.When NIPS suggested high risk of RAT and CNV,fetal prognosis should be evaluated in the combination of prenatal diagnosis with ultrasound follow-up,and monitoring and management of pregnancy should be strengthened.关键词
非侵入性产前检测/产前诊断/DNA拷贝数变异/三体性/多态性,单核苷酸/罕见常染色体三体Key words
Noninvasive prenatal testing/Prenatal diagnosis/DNA copy number variations/Trisomy/Polymorphism,single nucleotide/Rare autosomal trisomies引用本文复制引用
傅婉玉,金莎汶,江矞颖,李燕青..无创产前筛查技术在罕见常染色体三体及染色体拷贝数变异的临床效果分析[J].国际生殖健康/计划生育杂志,2024,43(4):279-283,5.基金项目
福建省卫生健康重大科研专项(2021ZD01002) （2021ZD01002）
福建省科技创新专项[闽财指(2021)741号] （2021）
