First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.
Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.
Dpto Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, Spain.
C
C
Pérez-Cerdá
B
B
Merinero
A
A
Jiménez
M J
MJ
García
P
P
Sanz
L
L
Ijlst
R J
RJ
Wanders
M
M
Ugarte
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D012307:Risk Factors
D015094:3-Hydroxyacyl CoA Dehydrogenases