摘要
目的探讨无创产前检测(NIPT)提示9号染色体异常病例的产前诊断和遗传学分析。方法选取2019年8月至2023年12月就诊于首都医科大学附属北京妇产医院产前诊断中心且NIPT提示为9号染色体异常的16例孕妇作为研究对象,均接受产前遗传咨询,其中14例孕妇接受介入性产前诊断,进行羊水细胞染色体核型分析和(或)染色体基因组拷贝数变异分析。回顾性整理入组孕妇的临床资料、产前诊断结果和妊娠结局,随访活产儿情况。结果16例孕妇中14例孕妇接受介入性产前诊断,5例确诊为9号染色体异常,阳性预测值为35.71%(5/14),包括3例诊断为嵌合型9-三体综合征引产终止妊娠,1例诊断为致病性基因组拷贝数变异(CNV)引产终止妊娠,1例为临床意义未明CNV,足月分娩,新生儿未见异常;其余9例诊断正常,足月分娩,随诊新生儿未见异常。另外2例拒绝产前诊断,其中1例失访,1例产后拒绝随访。结论NIPT筛查胎儿9号染色体异常有一定价值,但需要联合染色体核型分析和CNV分析对其检测结果进行产前诊断的验证,以满足临床诊断的需求。
Objective To investigate the prenatal diagnosis and genetic analysis of patients with chromosome 9 abnormality detected by non-invasive prenatal testing(NIPT).Methods A total of 16 pregnant women who were diagnosed with chromosome 9 abnormality by NIPT in the Prenatal Diagnosis Center of Beijing Obstetrics and Gynecology Hospital from August 2019 to December 2023 were selected as the research objects.All of them received prenatal genetic counseling,and 14 of them received invasive prenatal diagnosis,including karyotyping and/or copy number variation analysis of amniotic fluid cells.The clinical data,prenatal diagnosis results and pregnancy outcomes of the enrolled pregnant women were retrospectively collected,and the live births were followed up.Results Among the 16 pregnant women,14 pregnant women received invasive prenatal diagnosis,and 5 cases were diagnosed with chromosome 9 abnormality,with a positive predictive value of 35.71%(5/14).Three cases of Mosaic trisomy 9 syndrome were induced to terminate pregnancy,1 case of pathogenic copy number variations(CNV)was induced to terminate pregnancy,and 1 case of CNV of unknown significance was full-term delivered with no abnormalities in the newborn.The remaining 9 cases were diagnosed as normal and delivered at term,and no abnormality was found in the follow-up newborns.The other two cases refused prenatal diagnosis,one of them was lost to follow-up,and the other refused to be followed up after delivery.Conclusion NIPT screening for fetal chromosome 9 abnormalities has certain value,but it needs to be combined with karyotype analysis and CNV analysis to verify the results of prenatal diagnosis to meet the needs of clinical diagnosis.
作者
李珊珊
张萌
吕巍
陈玉娇
曹博
王一鹏
闫有圣
LI Shanshan;ZHANG Meng;LYU Wei;CHEN Yujiao;CAO Bo;WANG Yipeng;YAN Yousheng(Prenatal Diagnosis Center,Beijing Obstetrics and Gynecology Hospital,Capital Medical University Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)
出处
《检验医学与临床》
CAS
2024年第22期3380-3387,共8页
Laboratory Medicine and Clinic
基金
国家重点研发计划(2023YFC2705605)
首都临床特色诊疗技术研究及转化应用项目(Z221100007422012)。
关键词
无创产前检测
9号染色体
产前诊断
染色体核型分析
染色体基因组拷贝数变异
遗传学分析
non-invasive prenatal testing
chromosome 9
prenatal diagnosis
chromosome karyotype analysis
copy number variation of chromosome genome
genetic analysis
