Application of expanded carrier screening for autosomal recessive monogenic diseases in 1384 patients undergoing assisted reproductive technology
10.3760/cma.j.cn115455-20250417-00339
- VernacularTitle:1 384例隐性单基因病筛查者联合辅助生殖技术的应用情况
- Author:
Ming SHI
1
;
Xin KANG
;
Lei WANG
;
Chen ZHANG
;
Yujie ZHANG
;
Jingjing ZHANG
;
Yang SHI
;
Guanbin XU
Author Information
1. 大连市妇女儿童医疗中心（集团）体育新城院区检验科，大连 116037
- Publication Type:Journal Article
- Keywords:
Recessive disorder;
Expanded carrier screening for monogenic diseases;
Assisted reproductive technology
- From:
Chinese Journal of Postgraduates of Medicine
2025;48(11):1020-1024
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the guiding significance of Expanded Carrier Screening (ECS) for the fertility process of individuals undergoing Assisted Reproductive Technology (ART) in Dalian.Methods:A retrospective analysis was conducted on the ECS results of patients who visited the Dalian Maternal and Child Health Care Center (Group) from January 2023 to June 2024. The study included the screening of 155 monogenic diseases and the ART status of carrier couples.Results:Among the 1 384 patient samples, 490 carriers were identified, yielding a detection rate of 35.41% (490/1 384). A total of 100 diseases and 91 pathogenic genes were detected. The most frequently identified disease was autosomal recessive hearing loss type 4 (SLC26A4), with a carrier rate of 3.54% (49/1384). For the 490 carriers, their partners were recalled for testing and, 322 partners participated. Eight high-risk couples were identified, accounting for 2.48% (8/322). Among the 322 couples, 4 used artificial insemination by husband (AIH, 1.24%, 4/322), 166 used in vitro fertilization (IVF, 51.55%, 166/322), 139 used intracytoplasmic sperm injection (ICSI, 43.17%, 139/322), and 1 underwent preimplantation genetic testing for monogenic diseases (PGT-M, 0.31%, 1/322). Twelve couples (3.73%, 12/322) did not undergo ART, were not pregnant, or chose gamete donation. Among the eight high-risk couples, three underwent IVF, four underwent ICSI, and one underwent PGT-M. One couple conceived through ICSI, and the fetus was followed up. Amniotic fluid Sanger sequencing revealed that the fetus had compound heterozygous mutations in the PAH gene, with two suspected pathogenic variants at c.532G>A and c.1174T>A. One couple undergoing PGT-M currently has one retrieved oocyte and zero usable blastocysts. The embryo carries a paternal mutation and is aneuploid.Conclusions:This study not only identified the common pathogenic diseases in Dalian, providing a reference for clinical treatment, but also validated the critical significance of ECS for individuals undergoing ART.
