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

作　　者：傅婉玉 金莎汶 江矞颖 李燕青 FU Wan-yu;JIN Sha-wen;JIANG Yu-ying;LI Yan-qing(Prenatal Diagnosis Center,Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省泉州市妇幼保健院·儿童医院产前诊断中心,362000

出　　处：《国际生殖健康／计划生育杂志》2024年第4期279-283,共5页Journal of International Reproductive Health/Family Planning

基　　金：福建省卫生健康重大科研专项(2021ZD01002);福建省科技创新专项[闽财指(2021)741号]。

摘　　要：目的:探讨分析无创产前筛查(noninvasive prenatal screening,NIPS)技术在罕见常染色体三体(rare autosomal trisomies,RAT)及染色体拷贝数变异(copy number variation,CNV)筛查中的临床意义。方法:回顾性分析于2017年3月—2023年7月因NIPS提示RAT和(或)CNV高风险在泉州市妇幼保健院·儿童医院产前诊断中心行羊水染色体核型分析及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNParray)检测的108例患者情况。结果:83例NIPS提示RAT高风险者中产前诊断结果异常共15例,阳性预测值为18.07%,分别为1例致病性拷贝数变异(pathogenic copy number variants,pCNV)、9例临床意义不明确(variants of uncertain significance,VOUS)、4例杂合性丢失(loss of heterozygosity,LOH)及1例VOUS+LOH。25例NIPS提示CNV高风险者中产前诊断结果异常共16例,阳性预测值为64.00%,分别为11例pCNV、1例可能致病性拷贝数变异(likely pathogenic copy number variants,lpCNV)及4例VOUS。结论:NIPS技术对于RAT高风险阳性预测值不高,但提示不良妊娠结局风险增加;对于CNV高风险筛查有一定的应用价值。当NIPS提示RAT和染色体CNV高风险,应结合产前诊断结果及超声随访对胎儿预后进行评估,并加强妊娠期监测和管理。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 

分 类 号：R714.5[医药卫生—妇产科学]