Nationwide investigation of multiple malformations.
A nationwide programme for the evaluation of 1,339 newborns with multiple malformations (about 8% of all malformed babies) notified to the Hungarian Congenital Malformation Registry in the period 1973 to 1975, was launched on January 1st, 1973. As specific syndromes and anomalads, 696 cases (51.9%) were notified. On the basis of individual malformations, 87 cases were identified from 439 patients with notified associations, and 27 multiple malformations among 172 stillborns and infant deaths were recognized from autopsy records collected from pathologists. 341 surviving infants were officially referred to 'multiple malformation centres' for special examination. 57 infants of 129 cooperating families were identified. Benefits of this programme are (i) the proportion of specific syndromes and anomalads increased by 12.8%; (ii) the rate of unspecified multiple malformations decreased by 56.6%; (iii) examination of multiple malformations may be the most sensitive means to detect teratogens; (iv) 50.5% of the expected number of chromosome abnormalities in newborns was found; (v) the nationwide material of multiple malformed babies offers a possibility to clarify gene abnormalities and new syndromes.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D006814:Hungary; D007231:Infant, Newborn; D012042:Registries