[18号染色体短臂缺失与重复胎儿的产前诊断]
[Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication].
作者信息
Li Wenwen, Shao Huifen, Yao Juan, Shi Chunxia, Yang Xinmiao, Zhang Jinghui, Zhang Xinli, Shen Guosong
机构信息
Prenatal Diagnosis Center, Huzhou Women and Children's Health Care Hospital, Huzhou, Zhejiang 313000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):569-572. doi: 10.3760/cma.j.cn511374-20200713-00509.
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.
目的
评估染色体微阵列分析（CMA）在验证无创产前检测提示的部分18p缺失胎儿方面的价值。
方法
对胎儿的羊水样本以及父母的外周血样本进行G显带染色体核型分析。羊水DNA也进行了CMA分析。对胎儿还进行了系统超声扫描。
结果
发现胎儿的核型为46,XX,18p+。CMA显示在18p11.32 - p11.31处有5 Mb的缺失，在18p11.31 - p11.23处有2.9 Mb的重复，在18p11.23 - p11.22处有2.5 Mb的重复。父母双方均未检测到染色体畸变或微缺失/微重复。
结论
无创产前检测和CMA对染色体微缺失和微重复的检测均敏感。CMA有助于阐明基因型 - 表型相关性，并为家庭提供产前诊断和遗传咨询。
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