Prenatal diagnosis of Hunter syndrome.
Prenat Diagn
; 4(3): 195-200, 1984.
Article
em En
| MEDLINE
| ID: mdl-6431402
ABSTRACT
Sixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2-sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels were observed in either amniotic fluid, cells or cord blood for four female fetuses. Such fetuses are likely to be carriers expressing reduced enzyme levels. The affected male fetus had reduced enzyme activity in amniotic fluid; insufficient cells were cultured for enzyme estimation, however no enzyme activity was detected in fetal liver after termination. Eight cord blood enzyme estimations have been performed, five confirming normal male infants.
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Base de dados:
MEDLINE
Assunto principal:
Sulfatases
/
Mucopolissacaridose II
/
Amniocentese
/
Iduronato Sulfatase
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
1984
Tipo de documento:
Article