Department of Molecular Medicine, AlJawhara Center, College of Medicine and Health Sciences, Arabian Gulf University, Manama, Bahrain.
Genetic Disease Clinic, University Medical Center, King Abdullah Medical City, Manama, Bahrain.
BMC Pregnancy Childbirth. 2024 Oct 18;24(1):684. doi: 10.1186/s12884-024-06878-1.
Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This study aims to identify the carrier genetic status of couples experiencing or anticipating conception challenges through NGS-based ECS and to gain an overview of the rare genetic disorders in a population with increased consanguinity.
Thirty couples who presented to the Genetic Disease Clinic between 2015 and 2024 with failed reproductive outcomes or with a positive personal or family history of genetic disorders and underwent ECS were included and retrospectively analyzed.
Fifty-four individuals (90.00%) were found to carry at least one variant of 95 identified genes, totaling 174 variants. Six individuals (10.00%) tested negative for any variant. Seven individuals had one variant (11.67%), 13 had two variants (21.67%), and 34 had 3 or more variants (56.67%). The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes. Most of the detected variants were unknown or unexpected (n = 143, 82.18%). Eight couples carried two or more variants in common. Consanguinity was reported in 14 couples (46.67%).
Preconception ECS is crucial for reproductive planning, permitting couples to evaluate their combined genetic risks and make informed decisions, reducing the chance of having children with genetic disorders.
孕前扩展携带者筛查 (ECS) 是一种基因检测方法，通过对多达数百个基因进行筛查，可识别隐性疾病的高危携带者。下一代测序 (NGS) 的发展为其整合到 ECS 中铺平了道路。本研究旨在通过基于 NGS 的 ECS 确定经历或预期受孕挑战的夫妇的携带者遗传状况，并概述具有较高血缘关系人群中的罕见遗传疾病。
2015 年至 2024 年间，30 对因生殖结局失败或具有遗传疾病阳性个人或家族史而到遗传疾病诊所就诊的夫妇接受了 ECS，并进行了回顾性分析。
54 人（90.00%）至少携带了 95 个已识别基因中的一个变体，总计 174 个变体。6 人（10.00%）未检测到任何变体。7 人有一个变体（11.67%），13 人有两个变体（21.67%），34 人有 3 个或更多变体（56.67%）。最常见的变体是 HBA、HBB、CYP21A2 和 G6PD 基因。大多数检测到的变体是未知或意外的（n=143，82.18%）。8 对夫妇携带两个或更多共同变体。14 对夫妇（46.67%）报告有血缘关系。
孕前 ECS 对生殖计划至关重要，使夫妇能够评估他们的综合遗传风险并做出明智的决策，从而降低生育遗传疾病儿童的机会。
