Diagnostic value of FTS and QUAD tests in detecting chromosomal abnormalities compared to FISH and KARYO tests (as gold standard)

Background: Congenital anomalies such as Down syndrome and other chromosomal aneuploidy in 13, 18, 21 and XY chromosomes have many economic, social, cultural and psychological burdens for families and society. Therefore, early diagnosis in the first trimester could prevent the complications of these abnormalities. For confirmation of screening tests, invasive tests are used.Objective: In order to compare the results of screening and invasive tests and to determine the degree of effectiveness this study was conducted.Materials and Methods: The medical record of 970 pregnant women referred to the Yazd Reproductive Science Institute was investigated in this study. Finally, 367 cases included which were the pregnant women under 35 yrs. old at 18 to 10 weeks of gestation. The screening results of patients who performed first and second trimester screening tests were compared. On the other hand, screening results compared with the results of invasive diagnostic tests include FISH and Karyotype. Then, statistical analyzing of data by alpha software and Q-square test were performed, diagnostic power and accuracy of the first and second trimester screening tests were determined. The analysis was performed using SPSS software version 20. The significance level was considered p<0.05.Results: The results of the comparison of screening tests with confirmatory tests showed that all screening tests for the first trimester and the second trimester were trisomy 21 screening with a sensitivity of 90% up to high, but unfortunately, the lower prevalence was in the range of 23% to 62% They can be calculated, which indicates that the false positive reports of these tests are high.Conclusion: Combined screening test with a sensitivity of 100% and specificity of 92% can be safely used up to prevent high-risk pregnancies. Therefore, it can be concluded that in order to obtain a better result with a higher degree of confidence, both the first and second quarterly screening tests should be carried out sequentially. We hope that eventually, improving screening tests can reduce the number of referrals for invasive diagnosis tests and their associated risk of abortion.

کلیدواژه ها:

Amniocentesis ، Screening test ، Invasive test ، Karyotype ، FISH