Annotation

Purpose: to assess the effectiveness of invasive methods of prenatal diagnostics in identifying chromosomal pathologies of the fetus in pregnant women of the Aktobe region.

Methods: A retrospective analysis was conducted on data from the Aktobe Regional Perinatal Center for 2023, covering prenatal screening results from the first trimester of 43,584 pregnant women. This represented 82.5% of those registered for prenatal care before 12 weeks of gestation. The Life Cycle computer program was utilized to calculate individual risk of chromosomal abnormalities. As a result, a high-risk group of 3,343 women (7.7%) was identified, and the course and outcomes of their pregnancies were further analyzed. Following informed consent, invasive prenatal diagnostic procedures were performed on 845 (25.3%) women in this group, including chorionic villus sampling (4.8%), placentocentesis (23.4%), amniocentesis (38.2%), and cordocentesis (33.5%).

Results: Cytogenetic and molecular genetic studies confirmed fetal chromosomal abnormalities in 82 cases (10.2%) among those who underwent invasive procedures. The following syndromes were identified: Down syndrome (69.7%), Edwards syndrome (17.4%), Patau syndrome (3.5%), Turner syndrome (4.6%), and structural rearrangements (4.6%). Among the 2,498 women at high risk who declined invasive diagnostics, adverse pregnancy outcomes were observed in 39 cases (1.6%).

Conclusion: The retrospective analysis underscores the importance of timely assessment of second-trimester markers, including echographic and biochemical indicators, for early detection of chromosomal abnormalities. Adherence to prenatal diagnostic protocols facilitates timely identification of chromosomal abnormalities, allowing families to make informed decisions about pregnancy continuation.
Keywords: biochemical screening, prenatal diagnosis, invasive prenatal diagnosis, chromosomal abnormalities