Evaluation of results of chorion vi̇llus samples of hemoglobinopathi̇es consulted for prenatal di̇agnosi̇s at Cukurova University between 2008-2012

Aim: Hemoglobınopaty is one of the most common hereditary disease in humans. We aimed to evaluate chorion villus samples of 1330 cases to prevent affected fetus delivery because of the high prevalance of disease and carrier family rate in our area. Material and Method: We evaluated 1330 cases with hemoglobinopathy attended to our university between 1 January 2008 to 31 December 2012. From medical histories and entrance records of patients, we recorded age, CVS indications, plasental location, attempt number, gestational age at sampling time and possible complications. We performed chorion villus sampling to 1330 cases by transabdominal approach between 10-21 weeks of pregnancy. Findings: We find out that the week of pregnants attended to our clinic to have sampling was 10 weeks and their sampling week of pregnancy was 12 weeks and 4 days. %8,8 of patients attended to our clinic at 14 week or more. We took placental tissue at the first insertion in %88,3 of cases. Fetal loss after chorion villus sampling was % 1,8. Complication rate was statistically higher with increasing insertion numbers (p:0.036). Chorioamnionitis risk was found to be %0,07 after the procedure. Patients who have placenta at the posterior location, complication rate was 2.21 times higher than the other locations (%95 GA:1,11-4,38)(p: 0,033). Results of genotypes of CVS was; %50,2 carrier, %25.4 disease free, %21 was mutant. We made termination to 266 affected fetuses. 11 affected fetuses were born. HbS(%31), HbD(%0,7),HbE(%0,6) was found according to CVS results. The most common Beta thalassemia mutation was IVS I-110 (%7,9). The most common alpha thalassemia mutation was alpha 3,7 Kb Del (%2). Results: People who need prenatal diagnosis, evaluation should be initiated before the pregnancy .In our clinic, prenatal diagnosis should be studied more practically and at one hand. We must concentrate on education at every level. Key Words: Chorionic Villus Sampling, Prenatal Diagnosis, Hemoglobinopaty