Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 447-448, 2003.
Artigo
em Chinês
| WPRIM
| ID: wpr-329437
ABSTRACT
<p><b>OBJECTIVE</b>To achieve pregnancy with unaffected embryo using in vitro fertilization and embryo transfer (IVF-ET) and preimplantation genetic diagnosis(PGD) for the couples at risk of having children with beta-thalassemia.</p><p><b>METHODS</b>A couple carrying different thalassemia mutations of codon 41/42 and codon IVS2 position 654 received standard IVF treatment and intracytoplasmic sperm injection, embryo biopsy, single cell polymerase chain reaction and DNA analyses, and only the unaffected or carrier embryos were transferred to uterus. Pregnancy confirmation, and prenatal diagnosis were done at 20 week's gestation.</p><p><b>RESULTS</b>A total of 13 embryos were analyzed in the IVF cycle. PGD indicated that 2 were normal 18.1 , 3 were affected 27.3 , and 6 were carriers 54.5 ; diagnosis was not possible in 2. Three embryos were transferred to uterus on the third day after oocyte retrieval. Ultrasonography showed twin pregnancy with one blighted ovum. The prenatal diagnoses revealed that both fetuses were unaffected, one normal baby and one carrier were born.</p><p><b>CONCLUSION</b>These studies represent the successful application of PGD for beta-thalassemia in China.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Resultado da Gravidez
/
Fertilização in vitro
/
Talassemia beta
/
Diagnóstico Pré-Implantação
/
Diagnóstico
/
Transferência Embrionária
/
Genética
/
Métodos
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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