Özet:

Objectives: Down syndrome is the most common hereditary syndrome and presents approximately one in every 800 to 1000 live births. Because Down Syndrome is the most common non-fatal trisomy, It is on the focus of the most genetic screening and diagnostic testing protocols. The aim of our study is to evaluate the cost of prenatal screening and diagnostic tests performed in our hospital and to find out the number of live-born babies with Down syndrome. Materials and Methods: The study was conducted between May-July 2017 SBU Zekai Tahir Burak Women's Health Education and Research Hospital. The records of 2300 pregnant women were screened. The cost of down syndrome screening and diagnosis was calculated. Results: Results of 1096 pregnant women with prenatal Down syndrome screening from 2300 pregnants who were followed up in antenatal outpatient clinics of our hospital were evaluated. 19(1,73%) CVS and 50(4,56%) amniocentesis were performed as an invasive procedure for the genetic diagnosis of the pregnant. According to the test results, 8(0.72) pregnant women were diagnosed as Trisomy 21. Pregnancy outcomes were like these; pregnancy termination applied to 4 pregnancies (1 CVS and 3 amniocentesis cases), 2 pregnancies (post-CVS) aborted spontaneously, 1 pregnancy resulted in premature stillbirth and one pregnant live birth. During the same time period, one pregnant with high risk screening test result didn’t accept amniocentesis and had a live baby with Down Syndrome. As a result, only 2 (0.18%) infants with Down syndrome were born alive. We spent a total of 11.856,00 PLN for those who had only double screening test done, 14.169,30 PLN for those who had only triple screening test done, 75.738,30 PLN for those who had both double and triple screening tests done, 16.810,00 PLN for pregnants who were genetically diagnosed by amniocentesis and 7.653,20 PLN for pregnants who were genetically diagnosed by CVS method. Only eight Down Syndrome cases diagnosed by spending a total of 126.226,80 TL. Conclusion: As a result of the more effective use of prenatal tests with accurate counseling about Down Syndrome, expenses on pregnant who reject pregnancy termination can be used to solve the health problems of live born children with Down Syndrome and to bring them to the community by increasing their quality of life. If optimal medical and social support is provided, the quality of life of individuals with Down’s syndrome can be significantly improved and significant contributions can be made to the community by making special assessments and examinations.

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