Detection of Prenatal Abnormal Chromosomal Syndrome among Pregnant Women with High Risk of Birth Defect during the First Trimester

Abstract

The aim of this study is to detect the common aneuploidies including chromosomes 13, 18, 21, X and Y and nine DNA micro-deletions during the first trimester among different group of pregnant women with one or more of birth defect risk factors and to identify the best diagnostic way for each group with reduced turnaround time by using new technology of BACs on beads, and to investigate whether the measurement of PLGF (Placental Growth Factor) can improve the performance of first trimester combined screening for Trisomy 21, 18 and 13. The study was carried out in two steps A- Prenatal screening for chromosomal anomalies using First trimester combined test with addition of Placental Growth Factor as biochemical marker. 1- A total 353 blood samples were collected from pregnant women visiting Gulf Medical University (GMU) laboratory or received at the lab from other collaborative laboratories. 2- Gestational age was maintained between 10 to 14weeks of pregnancy (first trimester). 3- The samples were tested for PAPPA, free HCG test (double marker test) from pregnant women