Abstract

Florin Burada*, Mihai Ioana*, Simona Serban Sosoi, Alexandru Cristian Comanescu, Dominic Gabriel Iliescu, Stefania Tudorache

ABSTRACT

Introduction: Chromosomal abnormalities are an important cause of congenital anomalies and pregnancy loss, occurring in approximately 1 of every 150-200 live births. The aim of this study was to evaluate the incidence and type of chromosomal abnormalities in high risk pregnancies using standard cytogenetic technique. Methods: A total of 465 amniotic fluid samples were analyzed by conventional karyotyping at Human Genomics Laboratory, University of Medicine and Pharmacy of Craiova, Romania. Results: The indications for prenatal cytogenetic testing were as follows: abnormal results of combined or triple test (43%), fetal anomalies detected using ultrasound examination (32%), advanced maternal age (21%) and positive family history (4%). Abnormal karyotypes were detected in 27 of 465 cases (5.8%). Numerical abnormalities were observed in 4.3% of cases, trisomy 21 being the most common (2.7%), followed by trisomy 18 (0.6%). Structural rearrangements such as robertsonian translocation or duplications were detected in 1.5% of cases. Conclusion: This study confirms the importance of conventional cytogenetic analysis in the prenatal diagnosis for detection of large chromosomal abnormalities.