Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy
10.3760/cma.j.cn511374-20231115-00256
- VernacularTitle:脊髓性肌萎缩症携带者筛查遗传咨询专家共识
- Author:
Ting HU
1
;
Junrong GUO
;
Shanling LIU
Author Information
1. 四川大学华西第二医院医学遗传科/产前诊断中心，成都 610041
- Keywords:
Spinal muscular atrophy;
Carrier screening;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2024;41(6):661-668
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease with a carrier frequency of 1/60 ~ 1/40, is characterized by severe clinical symptoms, high mortality rate, and expensive treatment costs. Carrier screening is of paramount importance to detect high-risk couples, and therefore to reduce the occurrence of SMA. In China, SMA carrier screening has become widespread, though there is still a lack of genetic counseling expertise. This article has focused on the current challenges for SMA carrier screening, including the screening methods, target population, screening procedures, and pre-/post-testing counseling. The aim is to standardize its application and counseling in the clinical practice.
