Cytogenetic evaluation of congenital anomalies in Manipur

Introduction: Birth defect, congenital malformation, and congenital anomaly are synonymous terms used to describe structural, behavioral, functional, and metabolic disorders present at birth. Birth defects are the leading cause of infant mortality. The most common serious congenital disorders are heart defects, neural tube defects, and Down syndrome. The objective of the study is to determine the chromosomal abnormalities (structural and numerical) in congenital anomalies of suspected genetic causes, by peripheral lymphocytic culture and cytogenetic evaluation. Material and Methods: The study was a cross-sectional study undertaken for a duration of 2 years in a total of fifty cases of congenital anomalies with suspected genetic abnormalities. Peripheral blood from these cases was collected, and lymphocyte tissue culture was done for about 48-72 h. The best metaphase spread was selected, photographed, printed, and karyotypes were prepared. Findings of the study were then described by descriptive statistics. Results: Most common congenital anomalies were seen in the musculoskeletal system with 19 anomalies (38% of all cases) followed by genital organs with 12 anomalies (24% of all cases) and cleft lip and cleft palate with 8 anomalies (16% of all cases). Chromosomal anomalies were seen in six cases (12% of all cases). All were cases of Down syndrome and had trisomy 21. Discussion and conclusion: The present study might be of help in an earlier and better diagnosis of the cases of congenital anomalies, particularly the cases presenting with chromosomal abnormalities so that their counselling can be started at the earliest. It might be suggested that cytogenetic evaluation of cases of congenital anomalies should be included in routine investigation.