Early diagnosis of fetal abnormalities – the importance of ultrasonographic examination

Abstract

First trimester screening is a combination of many factors including maternal age, nuchal translucency (NT) thickness, human chorionic beta-gonadotropin (free β-hCG), and pregnancy-associated plasma protein (PAPP-A). An important cause of perinatal morbidity and mortality is represented by fetal abnormalities that have an increasing incidence in both industrialized and developing countries. As the level of education increases, the average age of women who become pregnant has increased and so this may be one of the causes of the increase in the incidence of abnormalities. Aim. The purpose of this study is to highlight the importance of first trimester screening by analyzing the results obtained over a period of 3 years. Material and methods. We conducted an observational study that covered several aspects of fetal diagnosis: screening methods for chromosomal abnormalities, early diagnosis of structural abnormalities and their association with chromosomal anomalies. Results. The study included 6227 patients from two maternal-fetal departments of two private practice clinics from Bucharest and Constanta, the screening being performed by a specialist in maternal fetal medicine. 242 cases had a positive screening for aneuploidies. These and other 118 patients over the age of 35 (a total of 360 patients) opted to perform invasive diagnostic tests to rule out suspicion of aneuploidy. The karyotyping of the 360 cases showed: 18 (5%) cases with trisomy 21 (T21), 2 with trisomy 13 (T13), 1 case with trisomy 18 (T18) and 43 showed polymorphism changes of certain nucleotides (SNPs). A number of 1248 patients followed between 2016 and 2017 chose to perform screening by determining free fetal DNA in maternal blood. Conclusions. Our study emphasizes the recognized importance of first trimester screening. Even if the first trimester screening is included in the national health insurance, the access and addressability of many pregnant women belonging to disadvantaged social and cultural classes remain limited.