Conventional karyotyping in infants and children with multiple congenital anomalies

Background Physical impairments, stillbirths, and neonatal fatalities may be caused, in part, by congenital anomalies. Although the precise origin of most congenital anomalies remains unknown, both hereditary and environmental factors are implicated. This study aimed to assess the efficiency of conventional karyotyping in identifying potential chromosomal abnormalities in infants and children with multiple congenital anomalies. Patients and methods A cross-sectional study included 30 infants and children presenting with multiple congenital anomalies of unknown etiology. Comprehensive patient history, physical exam, and diagnostic testing (including conventional karyotyping) were conducted. Results Chromosome abnormalities were found in six (20%) out of 30 cases with congenital anomalies. Concerning the impacted systems, it was discovered that dysmorphic features were observed in 100% of cases, followed by cardiovascular anomalies (86.7%), limb and skeletal anomalies (50%), central nervous system anomalies (43.3%), gastrointestinal tract anomalies (33.3%), genital and other anomalies (26.7%) each, ocular anomalies (16.7%), and renal anomalies (6.7%) of cases. Conclusion Conventional karyotyping was abnormal in 20% of children with multiple congenital abnormalities, and it may be a valuable tool for assessing these individuals. The negative results of conventional karyotyping cannot exclude the possibility of chromosomal abnormalities in children with multiple congenital anomalies. Consanguinity increased the risk of multiple congenital anomalies.