一例18号染色体短臂缺失合并重复胎儿的产前诊断分析  

Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication

作　　者：李雯雯 邵惠芬 姚娟 施春霞 阳鑫妙 章静慧 张鑫丽 沈国松 Li Wenwen;Shao Huifen;Yao Juan;Shi Chunxia;Yang Xinmiao;Zhang Jinghui;Zhang Xinli;Shen Guosong(Prenatal Diagnosis Center,Huzhou Women and Children’s Health Care Hospital,Huzhou,Zhejiang 313000,China)

机构地区：[1]湖州市妇幼保健院产前诊断中心,浙江313000

出　　处：《中华医学遗传学杂志》2021年第6期569-572,共4页Chinese Journal of Medical Genetics

基　　金：湖州市科技局项目(2018GY03)。

摘　　要：目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术检测1例无创产前DNA筛查提示18号染色体短臂部分缺失胎儿基因组拷贝数变异的临床价值,为临床遗传咨询提供参考。方法应用常规染色体G显带技术分析羊水细胞的核型后,CMA技术检测潜在的染色体微缺失或微重复,并对胎儿进行系统超声检查,同时对其父母行相关检测。结果常规G显带核型分析显示胎儿核型为46,XX,18p+;CMA检测结果显示胎儿18号染色体短臂p11.32-p11.31区段存在约5 Mb缺失,18p11.31-p11.23区域(约2.9 Mb)约6~8个拷贝及18p11.23-p11.22区域(约2.5 Mb)4个拷贝,父母染色体核型分析及芯片检测结果均正常,为新发变异。结论从无创产前DNA筛查到CMA分子遗传学诊断分析能有效检出染色体微缺失或微重复,明确胎儿基因型与临床表型的对应关系,为染色体微缺失重复综合征的产前诊断提供参考。Objective To assess the value of chromosomal microarray analysis(CMA)to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.Methods G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents.Amniotic DNA was also subjected to CMA analysis.The fetus was also subjected to systematic ultrasound scan.Results The fetus was found to have a karyotype of 46,XX,18p+.CMA has revealed a 5 Mb deletion at 18p11.32-p11.31,a 2.9 Mb duplication at 18p11.31-p11.23,and a 2.5 Mb duplication at 18p11.23-p11.22.No chromosomal aberration or microdeletion/microduplication was detected in either parent.Conclusion Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications.CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.

关 键 词：无创产前DNA筛查 产前诊断 染色体微阵列分析 基因组拷贝数变异 染色体18p微缺失/重复 

分 类 号：R714.5[医药卫生—妇产科学]