Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated α-fetoprotein and cystic renal changes |
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Authors: | Christian A. Chisholm Fotini Vavelidis Mark A. Lovell Lawrence Sweetman Charles R. Roe Diane S. Roe Frank E. Frerman William G. Wilson |
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Affiliation: | 1. Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, VA, USA;2. Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA, USA;3. The Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, USA;4. Department of Pediatrics, University of Colorado School of Medicine, Denver, CO, USA;5. Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, USA |
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Abstract: | 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 α-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 α-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 α-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated α-fetoprotein and cystic renal disease. Early growth delay may be an additional feature. Copyright © 2001 John Wiley & Sons, Ltd. |
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Keywords: | counseling α-fetoprotein organic aciduria prenatal diagnosis cystic renal disease |
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