Document Type : Article
Department of Genetics, Faculty of Basic Science, Shahrekord University, P. O. Box: 115, Shahrekord 881 863 4141, Iran. Department of Industrial Biotechnology, Research Institute of Biotechnology, Shahrekord University, Shahrekord, Iran
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Fertility, Infertility and Perinatology Research Center, Ahvaz Jundishapur University of Medical Science, Ahvaz, Iran
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
Early detection of trisomy 18 during pregnancy and its termination can prevent disabled infants’birth who are a burden on the family and society. The aim of this study was to identify high-risk individuals by performing screening tests in the first trimester of pregnancy and to identify these cases by examining the karyotype. The present prospective study was conducted on 2421 pregnant women with agegestation between 11+0 and 13+6 weeks who were referred to Narges Genetics Laboratory in Ahvaz from 2016 to 2017. This screening was done using a combination of maternal age and fetal nuchal translucency and crown–rump length, biochemical markers serum free β-human chorionic gonadotrophin, and pregnancy associated plasma protein A.Thereafter, Regression and Chi-square test were performed to analyze the obtained data. Screening tests in the first trimester of pregnancy, 160 cases were included in the high-risk group. After performing karyotype examinations, it was found that 15 cases had trisomy 18. Afterward, in patients with trisomy 18, the mean NT was calculated as 4 mm and the mean CRL was 68 mm, the multiples of the median was of PAPP-A 0.2mg/ , and free β-hCG was 0.3ng/mL. The results of the present study demonstratethat by performing screening tests in the first trimester, considering the age of the mother and gestational age, the baseline risk for fetal anomalies can be detected and using specific software, congenital anomalies can also bediagnosed in the first trimester of pregnancy. And prevented the birth of a baby with a congenital anomaly.