Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.
We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of alpha-fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. In vitro metabolic studies on cultured amniocytes confirmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated alpha-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated alpha-fetoprotein and cystic renal disease. Early growth delay may be an additional feature.
Chisholm
C A
CA
Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, VA, USA. cchisho@jhmi.edu
Vavelidis
F
F
Lovell
M A
MA
Sweetman
L
L
Roe
C R
CR
Roe
D S
DS
Frerman
F E
FE
Wilson
W G
WG
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D002331:Carnitine / Q000031:analogs & derivatives* / Q000032:analysis; D003937:Diagnosis, Differential; D005234:Fatty Liver / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005317:Fetal Growth Retardation / Q000209:etiology; D005865:Gestational Age; D006801:Humans; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging* / Q000209:etiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis*
C116917:acylcarnitine; D000509:alpha-Fetoproteins; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine