Diagnostic Yield of Invasive Prenatal Cytogenetic Testing: A Ten-Year Retrospective Single-Center Study in Manisa

Objective: Prenatal diagnosis refers to the detection of fetal and embryonic chromosomal abnormalities during the antenatal period using appropriate methods based on gestational age. This study aimed to identify chromosomal abnormalities in high-risk pregnancies, determine their frequency, and highlight their clinical significance. Materials and Methods:This retrospective study included 1152 pregnant women who were recruited between January 2013 and December 2023.During this period, 774 amniocentesiscases,155 chorionic villus sampling (CVS), 153 abortions, and 70 fetal blood samples (cord blood) were analyzed.All samples were stained with Giemsa trypsin banding usingcellculture protocols specific to the material, and 20 metaphase chromosomes were analyzed using G-banded imaging systems.The 2016 International System for Human Cytogenetic Nomenclature (ISCN) was used for cytogenetic evaluation. Results: Abnormal karyotypes were found in 49 of 774 (6.33%) amniotic fluid samples, 16 of 155 (10.32%) chorionic villus (CVS) samples, 13 of 153 (8.49%) prenatal evacuation materials, and 8 of 70 (11.42%) fetal blood studies. Down syndrome was the most common anomaly. Conclusion: Despite the emerging technologies in prenatal diagnosis, fetal karyotyping remains a necessary and useful method. It remains effective in diagnosing fetal anomalies and providing genetic counseling. Identifying chromosomal anomalies in high-risk pregnancies is informative for subsequent pregnancies. Family studies are conducted in patients with structural chromosomal anomalies. Prenatal and preimplantation genetic diagnoses are recommended for patients with familial carriers.