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Prenatal diagnosis of multiple acyl‐CoA dehydrogenase deficiency: association with elevated α‐fetoprotein and cystic renal changes
Author(s) -
Chisholm Christian A.,
Vavelidis Fotini,
Lovell Mark A.,
Sweetman Lawrence,
Roe Charles R.,
Roe Diane S.,
Frerman Frank E.,
Wilson William G.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.157
Subject(s) - amniotic fluid , prenatal diagnosis , medicine , oligohydramnios , pregnancy , fetus , cystic fibrosis , endocrinology , gestation , differential diagnosis , alpha fetoprotein , steatosis , gastroenterology , pathology , obstetrics , biology , genetics , hepatocellular carcinoma
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.