Prenatal diagnosis of fetal microdeletion and microduplication syndromes among pregnant women with advanced maternal ages
10.3760/cma.j.cn511374-20230412-00205
- VernacularTitle:高龄孕妇中胎儿染色体微缺失微重复综合征的产前诊断
- Author:
Fang DUAN
1
;
Qichang WU
;
Yasong XU
;
Shiyu SUN
;
Yizhen JI
;
Li SUN
Author Information
1. 厦门市妇幼保健院（厦门大学附属妇女儿童医院）产前诊断科，厦门 361000
- Keywords:
Copy number variation;
Advanced maternal age;
Prenatal diagnosis;
Chromosome;
Microdeletion and microduplication syndromes
- From:
Chinese Journal of Medical Genetics
2024;41(4):486-493
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) and/or copy number variation sequencing (CNV-seq) for the prenatal diagnosis for women with advanced maternal ages, and to explore the challenges of prenatal genetic counseling brought by the types of fetal CNVs and uncertainty of related phenotypes.Methods:A retrospective analysis was carried out on 1 841 women with advanced maternal age who underwent interventional prenatal diagnosis at the Prenatal Diagnosis Center of Xiamen University Affiliated Women and Children′s Hospital from January 2017 to December 2020. Routine chromosomal karyotyping analysis and CMA/CNV-seq detection were carried out.Results:CMA/CNV-seq had detected pathogenic variants in 2 cases which had failed karyotyping analysis. Two hundred and twenty one fetal chromosomal abnormalities were detected by karyotyping analysis, among which 187 were detected by CMA/CNV-seq. CMA/CNV-seq analysis of 23 cases with balanced chromosome structural aberrations and 10 cases with low proportion mosaicisms (including a marker chromosome) had yielded a negative result. In addition, 26 cases (26/1 841, 1.4%) with pathogenic CNVs were discovered among those with a normal karyotype, of which 13 (50.0%) were recurrent CNVs associated with neurocognitive impairment, with 22q11.21 microdeletions and microduplications being the most common types (26.92%).Conclusion:The combination of karyotyping analysis and CMA/CNV-seq not only increased the rate of prenatal diagnosis, but also complemented with each other, which has facilitated genetic counseling and formulation of prenatal diagnosis strategy for the affected families.
