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

MATERIALS AND METHODS

This study consisted of 10 cases on whom invasive prenatal diagnostic test (IPNDT) was performed by a single physician for PND of OAs at the Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Hospital, Ankara, Turkey, between January 1, 2000 and December 31, 2017. The required data was retrospectively obtained from the electronic database of Hacettepe University. Prenatal diagnosis was performed on couples with mothers being carriers of the disease or having at least one child with OA in their families. Patients gave written informed consent and their approval was obtained prior to the invasive procedures. All pregnancies were evaluated by the Department of Genetics and Clinical Biochemistry, Hacettepe University Hospital, Ankara, Turkey, within the framework of the PND program. Genomic DNA was obtained from venous (whole) blood of the index cases and the parents. The blood samples were collected in EDTA K2-containing vacutainers and transferred to the laboratory for targeted mutation analysis. With the known genotypes of the index cases and parents before pregnancy, pregnant women were referred to the Division of Perinatology, Hacettepe University Hospital, Ankara, Turkey, for PND. Chorionic villus sampling (CVS) was performed between the 11th to 14th gestational weeks (all CVS procedures were performed by the transabdominal route) and amniocentesis (AC) was performed between the 16th to 20th gestational weeks. All women at risk of Rh isoimmunization received 300 μg of Rh-Ig following the invasive procedures. Genomic DNA was extracted from chorionic villi and amniotic fluid samples using the DNA extraction kit (Gentra Systems, Minneapolis, MN, USA) according to the manufacturer’s instructions. Targeted mutation analysis was performed for the specific mutations using polymerase chain reaction (PCR) and direct Sanger sequencing [13]. The coding exons and the flanking introns of the diseasecausing genes were amplified by PCR. Amplified PCR products were checked on agarose gel and purified using MultiScreen®HTS Millipore vacuum manifold (Millipore, Burlington, MA, USA). Thereafter, sequence analysis of the gene-specific PCR products was performed using the SeqMan 6.1 module of the Lasergene (DNA Star Inc., Madison, WI, USA) software package. Finally, the results of these sequence analyses were compared to the reference GenBank sequences for each gene. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity, gestational week of the IPNDT, prenatal test indications (mothers being carriers of the disease or at least one child with OA in their families), OA types, method of IPNDT (CVS or AC), IPNDT results (healthy or disease positive) and gestational outcomes (termination or continuation of pregnancy) after the diagnosis were evaluated. Statistical analyses were conducted using the Statistical Package for the Social Sciences (SPSS®) version 22 software (https://www.ibm.com/SPSS-Statistics/software). Collected data are presented as median (range) values. Categorical data are presented as percentages. The study protocol was approved by the Hacettepe University Ethics Committee [#GO 16/690].

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