Large regions of homozygosity in prenatal diagnosis

Ma, Di1,2,3; Ye, Mei2,3,4; Hu, Wenlong2,3,4; Gao, Hui1,2,3; Wang, Lijuan1,2,3; Song, Yaqin1,2,3; Nie, Rui1,2,3; Hu, Zhiyang2,3,5; Guo, Hui1,2,3

2024-05-01

10.1002/ajmg.a.63712

AMERICAN JOURNAL OF MEDICAL GENETICS PART A   影响因子和分区

1552-4825

1552-4833

Chromosomal microarrays (CMA) incorporate single nucleotide polymorphisms to enable the detection of regions of homozygosity (ROH). Here, we retrospectively analyzed 6288 prenatal cases who performed CMA to explored the clinical implications of large ROH in prenatal diagnosis. We analyzed cases with ROH larger than 10 megabases and reviewed the ultrasound findings; karyotype results and pregnancy follow-up data. Cases with possible imprinting disorders were assessed by methylation-specific multiplex ligation-dependent probe amplification. In total, we identified 50 cases with large ROH and chromosomes 1 and 2 were the most affected. About 59.18% of the ROH cases had ultrasound abnormalities, with the most common findings being ultrasound soft-marker abnormalities. There were seven fetuses had ROH which covered almost the entire chromosome and four had terminal ROH that involved almost the entire long arm of the chromosomes, which indicated uniparental disomy (UPD), of which 70% showed abnormal ultrasound findings. Ten cases with multiple ROH on different chromosomes indicated the third to fifth degree of consanguinity. In this study, we highlighted the clinical relevance of large ROH related to UPD. The analysis of ROH allowed us to gain further understanding of complex cytogenetic and disease mechanisms in prenatal diagnosis.

chromosomal microarray analysis identity by descent regions of heterozygosity uniparental disomy

SCI

英语

通讯

Genetics & Heredity

Genetics & Heredity

WOS:001224518600001

WILEY

MOLECULAR BIOLOGY & GENETICS

Web of Science

1.Jinan Univ, Shenzhen Peoples Hosp, Forens Evidence Lab, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R China
2.Southern Univ Sci & Technol, Affiliated Hosp 1, Shenzhen 518020, Guangdong, Peoples R China
3.Jinan Univ, Shenzhen Peoples Hosp, Genet & Prenatal Dis Diag Ctr, Clin Med Coll 2, Shenzhen, Peoples R China
4.Jinan Univ, Shenzhen Peoples Hosp, Clin Med Res Ctr, Clin Med Coll 2, Shenzhen, Peoples R China
5.Jinan Univ, Shenzhen Peoples Hosp, Dept Obstet, Clin Med Coll 2, Shenzhen, Peoples R China

Ma, Di,Ye, Mei,Hu, Wenlong,et al. Large regions of homozygosity in prenatal diagnosis[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2024.

Ma, Di.,Ye, Mei.,Hu, Wenlong.,Gao, Hui.,Wang, Lijuan.,...&Guo, Hui.(2024).Large regions of homozygosity in prenatal diagnosis.AMERICAN JOURNAL OF MEDICAL GENETICS PART A.

Ma, Di,et al."Large regions of homozygosity in prenatal diagnosis".AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024).