Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: Association with elevated α-fetoprotein and cystic renal changes

Christian A. Chisholm, Fotini Vavelidis, Mark A. Lovell, Lawrence Sweetman, Charles R. Roe, Diane S. Roe, Frank E. Frerman, William G. Wilson

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)856-859
Number of pages4
JournalPrenatal Diagnosis
Volume21
Issue number10
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • α-fetoprotein
  • Counseling
  • Cystic renal disease
  • Organic aciduria
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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