Maternal complex chromosomal rearrangement leading to fetal chromosomal structural abnormalities: an analysis of three cases
10.3760/cma.j.cn113903-20241231-00873
- VernacularTitle:母源性复杂染色体重排致胎儿染色体结构异常：3例分析
- Author:
Yingying SHEN
1
;
Dongzhi LI
1
;
Wei LI
1
;
Fei LI
1
;
Cuixing YI
1
;
Simin YUAN
1
Author Information
1. 广州医科大学附属妇女儿童医疗中心产前诊断中心，广州 510623
- Publication Type:Journal Article
- Keywords:
Complex chromosome rearrangement;
Prenatal diagnosis;
Cytogenetic analysis;
Molecular genetic analysis;
Chromosomal abnormalities
- From:
Chinese Journal of Perinatal Medicine
2025;28(5):414-418
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical features and genetic effects of cases of fetal chromosomal structural abnormalities caused by maternal complex chromosomal rearrangements (CCR).Methods:Three female CCR carriers referred to the Prenatal Diagnostic Center at Guangzhou Women and Children's Medical Center, Guangzhou Medical University between October 2023 and June 2024 were retrospectively enrolled. Genetic analyses included chromosomal karyotyping, chromosomal microarray analysis (CMA), and low-coverage whole-genome copy number variation (CNV) sequencing. Clinical features of the three cases with fetal chromosomal structural abnormalities caused by maternal CCR were systematically reviewed using descriptive statistics.Results:(1) Case 1: CNV sequencing identified an 11.95 Mb duplication at 1q43q44 region of chromosome (CNV of uncertain significance) and a 36.09 Mb deletion at 5p15.33p13.2 region of chromosome (pathogenic CNV) in the fetus (maternally inherited). Maternal karyotype was 46,XX,t(1;8;3;5)(q43;q22.1;q26.2;p13.2). The pregnancy was terminated after genetic counseling. (2) Case 2: Maternal karyotype 46,XX,t(3;20)(p25;q13.1),t(6;12)(q25.2;q21.2),ins(11;14)(q23;q24q13) was transmitted to the fetus [46,XX,ins(11;14)(q23;q24q13)mat]. CMA of the fetus showed no abnormalities and the pregnancy was continued after genetic counseling. (3) Case 3: CMA of the products of conception revealed a 71.59 Mb duplication at 2p24.3p11.2 (pathogenic CNV). Maternal karyotype was 46,XX,der(2)t(2;3)(q21;q23)ins(11;2)(p13;p24p11.2),der(3)t(2;3),der(11)ins(11;2). The abnormal chromosome 2 segment in products of conception was maternally inherited.Conclusions:All three cases of fetal/abortus chromosomal abnormalities originated from maternal CCR. Early combined cytogenetic and molecular prenatal diagnosis is critical for CCR carriers during pregnancy.
