The most effective method of screening chromosomal abnormalities is by a combination of fetal nuchal translucency thickness and maternal serum free beta human chorionic gonadotrophin hormone and pregnancy associated plasma protein-A at the first 10–14 weeks of pregnancy gestation.
Methods: The serum of 526 pregnant women was separated and pregnancy associated plasma protein-A, and free beta human chorionic gonadotrophin hormone were measured. The ultrasound scan included a full structural survey, and nuchal translucency. Risks for chromosomal abnormalities were calculated using the software Prisca - mathematical model which gives individual risks for trisomy 21, 18 and 13.
Results: Over a 2 – year period of time, screening was carried out in 526 pregnancies. Median maternal age was 29,3 years old (range: 13, 4 to 43 years old), and 64 (12, 2%) of women who were 35 years old or older at the time of this assessment. In this prospective study, in among of the 526 pregnant women overall, 48 (9,1 %) fetuses had an estimated risk for trisomy 21 and trisomy 13/18. In the rest of 478 (90, 9 %) cases, chromosomal abnormality was not found.
Discussion: The first trimester screen has been available in Macedonia for several years, but only recently have been determined effective means of early chromosomal abnormality screening. In cases with chromosomal abnormalities we found a significant correlation between free beta human chorionic gonadotrophin hormone and nuchal translucency.
Conclusion: The screening of chromosomal abnormalities in pregnancy and the assessing risk of Down syndrome, Edward syndrome and Patay are of utmost importance for all pregnant women and the society as well.With this screening we are going to prevent their occurrence and we will reduce the psychological and physical suffering of parents and society, especially in today's modern society, where the technology is most advanced in the industry, and prevention is really possible!