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 (MAD D) 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 oligoh ydramnios; the parents decided to terminate the pregnancy. Postmortem exami nation confirmed the cystic renal disease and showed hepatic steatosis, rai sing 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 -fet oprotein were elevated, and the amniotic fluid acylcarnitine profile was co nsistent with MADD. In vitro metabolic studies on cultured amniocytes confi rmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal chan ges in affected fetuses and show a relationship with elevated alpha -fetopr otein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated alpha -fetoprotein an d cystic renal disease. Early growth delay may be an additional feature. Co pyright (C) 2001 John Wiley & Sons, Ltd.