Prenatal diagnosis and genetic analysis of 9p24 microdeletion in six fetuses
10.3760/cma.j.cn113903-20210521-00480
- VernacularTitle:6例9p24区微缺失胎儿的产前诊断与遗传学分析
- Author:
Dong WU
1
;
Qian ZHANG
;
Yue GAO
;
Mengting ZHANG
;
Fengyang WANG
;
Xin WANG
;
Bing KANG
;
Shixiu LIAO
Author Information
1. 河南省人民医院医学遗传研究所 河南省医学遗传研究所 河南省遗传性疾病功能基因组重点实验室 国家卫生健康委出生缺陷预防重点实验室，郑州 450003
- Keywords:
Chromosomes, human, pair 9;
Chromosome deletion;
Array comparative genomic hybridization;
DNA copy number variations;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2022;25(2):117-121
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the prenatal diagnosis and genetic analysis of 9p24 microdeletion in six fetuses.Methods:Genetic data of six pregnant women with positive results of serological Down's syndrome screening at Henan Provincial People's Hospital from January 2018 to January 2020 were retrospectively collected and analyzed. Amniotic fluid and the parents' peripheral blood samples were subjected to G banding and array comparative genomic hybridization (aCGH) analysis. Detected copy number variation (CNV) were classified based on the American College of Medical Genetics and Genomics (ACMG) scoring standard.Results:Six fetuses showed no abnormalities in ultrasound during the second trimester as well as in karyotyping. A chromosome deletion of 1 019~6 001 kb at 9p24 was found in all six fetuses by aCGH, referring to disease-related genes DMRT1, SMARCA2, DOCK8, etc. The deletion of case 3 was inherited from the asymptomatic father, and the other fetal five were all de novo mutations. Cases 1, 2, 5, and 6 were pathogenic/likely pathogenic CNV carriers and cases 3 and 4 were CNV of unknown clinical significance carriers. After genetic counseling, cases 1, 2, 5, and 6 chose to terminate the pregnancies; cases 3 and 4 continued and gave birth to normal offspring. Conclusions:Fetuses with 9p24 microdeletion lack specific phenotypes before born. DMRT1 and SMARCA2 may be the key genes in this region.
