中華民國小兒科醫學會第137屆學術演講會教育演講：先天性畸形－先天異常

A congenital anomaly is a structural abnormality of any type that is present at birth. The causes of congenital anomalies are often divided into genetic factors (chromosome abnormalities and mutant genes) and environmental factors, many common congenital anomalies caused by multifactorial inheritance. From January, 1991, to December, 1993, 42,222 liveborn infants were collected from eight hospitals in Kaohsiung city. Approximately 489 (1.16%) infants of all liveborn infants had major congenital anomalies. The most common major malformations were congenital heart diseases (338 cases), cleft lip and palate (49 cases), and polysyndactyly (28 cases). Chromosome abnormalities had trisomy 21(18 cases) and trisomy 18 (4 cases). Four cases had identified mutant gene syndromes. The majority of infants with congenital anomalies of unknown cause likely have a genetic disorder. Molecular biological techniques will accelerate genetic discoveries over the next few decades.