Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.
Prenat Diagn
; 8(4): 307-9, 1988 May.
Article
em En
| MEDLINE
| ID: mdl-3399484
ABSTRACT
In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.
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Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Carbamoil-Fosfato Sintase (Amônia)
/
Feto
/
Ligases
/
Fígado
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
1988
Tipo de documento:
Article