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
em Zh
| WPRIM
| ID: wpr-879609
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Testes Genéticos
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Distrofia Muscular de Duchenne
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Aconselhamento Genético
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Triagem de Portadores Genéticos
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article