Carrier screening model for Duchenne muscular dystrophy for women of reproductive age based on a pre-pregnancy birth defect control platform.
10.3760/cma.j.cn511374-20200331-00223
- VernacularTitle:基于孕前优生平台的育龄女性假肥大型肌营养不良症携带者筛查模式
- Author:
Jinxian ZHENG
1
;
Shuai HAN
;
Wen YE
;
Shulie YAO
;
Ming QI
;
Jianfen CHEN
;
Hong XU
Author Information
1. Hangzhou Health Service Center for Children and Women, Hangzhou, Zhejiang 310006, China. 2466787272@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Carrier Screening;
Genetic Counseling;
Genetic Testing;
Humans;
Muscular Dystrophy, Duchenne/genetics*;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(5):485-487
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.
METHODS:A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided.
RESULTS:For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion.
CONCLUSION:Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.
