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.
Pérez-Cerdá
C
C
Dpto Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, Spain.
Merinero
B
B
Jiménez
A
A
García
M J
MJ
Sanz
P
P
Ijlst
L
L
Wanders
R J
RJ
Ugarte
M
M
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