PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Reprod Biomed Online
; 26(5): 420-30, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-23523379
ABSTRACT
Preimplantation genetic diagnosis (PGD) for inherited disorders is presently applied for more than 300 different conditions. The most frequent PGD indication is cystic fibrosis (CF), the largest series of which is reviewed here, totalling 404 PGD cycles. This involved testing for 52 different CFTR mutations with almost half of the cases (195/404 cycles) performed for ΔF508 mutation, one-quarter (103/404 cycles) for six other frequent mutations and only a few for the remaining 45 CFTR mutations. There were 44 PGD cycles performed for 25 CF-affected homozygous or double-heterozygous CF patients (18 male and seven female partners), which involved testing simultaneously for three mutations, resulting in birth of 13 healthy CF-free children and no misdiagnosis. PGD was also performed for six couples at a combined risk of producing offspring with CF and another genetic disorder. Concomitant testing for CFTR and other mutations resulted in birth of six healthy children, free of both CF and another genetic disorder in all but one cycle. A total of 96 PGD cycles for CF were performed with simultaneous aneuploidy testing, including microarray-based 24-chromosome analysis, as a comprehensive PGD for two or more conditions in the same biopsy material.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aberrações Cromossômicas
/
Diagnóstico Pré-Implantação
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Fibrose Cística
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Aneuploidia
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Reprod Biomed Online
Assunto da revista:
MEDICINA REPRODUTIVA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos