TY - JOUR

T1 - Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

AU - Gregersen, N

AU - Winter, V

AU - Jensen, P K

AU - Holmskov, Anni

AU - Kølvraa, S

AU - Andresen, B S

AU - Christensen, E

AU - Bross, Peter Gerd

AU - Banner, Jytte

AU - Gregersen, M

PY - 1995/1

Y1 - 1995/1

N2 - Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.

AB - Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.

KW - Acyl-CoA Dehydrogenase

KW - Acyl-CoA Dehydrogenases

KW - Chorionic Villi Sampling

KW - DNA

KW - Electrophoresis, Polyacrylamide Gel

KW - Fatty Acids

KW - Female

KW - Humans

KW - Infant

KW - Oxidation-Reduction

KW - Point Mutation

KW - Polymerase Chain Reaction

KW - Pregnancy

KW - Sudden Infant Death

M3 - Journal article

C2 - 7740006

VL - 15

SP - 82

EP - 86

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 1

ER -