An Overview of Prenatal Screening/Diagnosis Programs for Down Syndrome in Turkey

Gokcen O., Mehmet D., Emine A., Mehmet A., Sinan B. M.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, vol.16, pp.29-34, 2016 (SCI-Expanded) identifier identifier


The aim of this paper is to demonstrate the prenatal screening variables and risk factors of pregnancies with Down syndrome (DS) babies, and to explicate invasive prenatal testing strategies. This study consist of 21 "trisomy-21" fetuses, diagnosed prenatally within the framework of prenatal screening and diagnosis programs at the Division of Perinatology, Hacettepe University. It also consist of a review of the prenatal screening variables and gestational risk factors for invasive prenatal testings. Researchers observed that advanced maternal age is the main risk factor for having an invasive prenatal testing. The other important factor associated with DS is ultrasonografic findings. Increased "double/combined test" risk (n=12), and increased "triple test" risk (n=3) were. noted in 21DS cases. Among all the DS cases; 18 of them were terminated, the rest rejected the termination option. Prenatal diagnosis of DS is important in clinical practice, but physicians often come under the pressure of social and legal issues.