Abstract

Objective: We aimed to evaluate the contribution of first trimester screening maternal serum biochemical markers and nuchal translucency assessment in fetal chromosomal abnormality detection
Material and Methods: The data of 69 patients who had high risk for chromosomal abnormality in 1. trimester screening test and was performed genetic amniocentesis (AC) for prenatal diagnosis in İstanbul Şişli Etfal Training and Research Hospital second clinic of Obstetrics and Gynecology Department between January 2007 and January 2009 was retrospectively evaluated. Nuchal translucency (NT) results, pregnancy-associated plasma protein-A (PAPP-A) ve free ß-hCG (fß-hCG), age risk, biochemical risk and combined risk results gathered from 1. trimester screening test were compared for their chromosomal abnormality determining rates.
Results: 3 (%4,2) of 69 amniocentesis results were abnormal for chromosomal pattern. (%1,4 Trizomi 21, %1,4 15p delesyon, %1,4 INV 9-P11Q13) We found NT?3 mm in all cases of chromosomal aberration. The increases in NT thickness and combined risk parameters were found to be highly statistically significant in detecting chromosomal abnormalities according to the amniocentesis results (p

Key words: Prenatal diagnosis, nuchal translucency measurement, amniocentesis, chromosome aberrations, pregnancy-associated plasma protein-A, down syndrome, maternal age