[Active screening for genetic pathology in newborns. I. Registration of congenital abnormalities]

Active screening for genetic pathology over a period of 12 years (1990-2001) involved examination of 29,629 newborns at the Clinic of Obstetrics and Gynaecology. Congenital anomalies were detected in 1244 cases (live-, stillbirths and terminated pregnancies) which gives an average incidence rate of 42.0 per 1000 among the studied population. Congenital cardiac anomalies and CA of the central nervous system were the most common types of isolated CA. They provided frequencies of 7.76 per 1000 and 6.85 per 1000 cases respectively. The incidence of the neural tube defects (NTD), particularly, varied throughout the years (t = 2.69; p < 0.01) but stated high--on average 2.12 per 1000 with the highest rate of 3.89 per 1000 in 1993. A reduction in the incidence of NTD is possible with a recommendation of periconceptional folic acid supplementation. Registration of CA is a strategy for identifying families at risk to give births of child with CA. This approach enabled us to provide more accurate genetic counselling and prenatal diagnosis for genetic pathology. Active screening of newborn population is likely to be an effective and necessary service.