title: [Type and incidence of abnormalities in 23,939 newborn infants in a 5-year period].
abstract: 23,939 children born consecutively at the Department of Obstetrics and Gynaecology, University of Graz, over a 5-year period ending 31. 12. 1984 were surveyed for the presence of major malformations. 394 (1.6%) had a major congenital defect. Within the same time 392 infants died during the perinatal period, 86 of them being malformed (22%). The malformations were listed according the most likely mode of inheritance, revealing a total of 80 different congenital defects. About 70% of these malformations are associated with an increased recurrence risk (greater than 1%) and 15% carry a high risk of recurrence (greater than 10%). These facts point to the importance of prenatal diagnosis and proper genetic counselling.
mesh_terms: D000015:Abnormalities, Multiple / Q000401:mortality; D001317:Austria; D002869:Chromosome Aberrations / Q000401:mortality; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics / Q000401:mortality*; D003430:Cross-Sectional Studies; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn
vernacular_title: Art und Häufigkeit von Missbildungen unter 23,939 Neugeborenen eines Zeitraumes von 5 Jahren.