Balkan Journal of Medical Genetics

PRENATAL DIAGNOSIS OF ORGANIC ACIDEMIAS AT A TERTIARY CENTER
Tanacan A1,*, Gurbuz BB2, Aydin E1, Erden M1, Coskun T2, Beksac MS1
*Corresponding Author: Dr. Atakan Tanacan, Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University Hospital, Tıp Fakültesi Street, Sıhhiye, Ankara, Turkey. Tel: +90- 532-353-0892. Fax: +90-312-305-1910. E-mail: atakantanacan@yahoo.com
page: 29

RESULTS

Prenatal diagnosis was performed for three types of OAs: maple syrup urine disease (MSUD) (n = 5, 50.0%), methylmalonic acidemia (MMA) (n = 3, 30.0%) and isovaleric acidemia (IVA) (n = 2, 20.0%). Three mutations in the BCKDHA gene (c.347A>G, c.905A>C and c.940C>T) and two mutations in the BCKDHB gene (c.502C>T and c.574G>A) were detected in the families with MSUD, who were all associated with the classic phenotype. All of the families with MMA had mutations in the MUT gene (c.278 G>A, c.329A>G and c.2200C>T). Finally, all of the families with IVA had mutations in the IVD gene (c. 932C>T for both). Demographic features and clinical characteristics of the cases are shown in Table 1. Median gestational week for IPNDT was 11.5 weeks. Ninety percent of the IPNDT indications was the presence of at least one child with OA in their families. Seventy percent of the IPNDTs were CVS. Two pregnancies (20.0%) with disease-positive fetuses (one case with IVA, c.932C>T at the13th gestational week, and one case with MMA, c.278G>A at the 19th gestational week) that were terminated after the parents opted to have IPNDT and decided to terminate the pregnancy in a case of OA.

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