Carrier screening model for Duchenne muscular dystrophy for women of reproductive age based on a pre-pregnancy birth defect control platform / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 485-487, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879609
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
Muscular Dystrophy, Duchenne
/
Genetic Counseling
/
Genetic Carrier Screening
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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