Czeizel A, Kiss P, Osztovics M, Pazonyi I
Acta Paediatr Acad Sci Hung. 1978;19(4):275-80.
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.
1973年1月1日启动了一项全国性计划,对1973年至1975年期间通报给匈牙利先天性畸形登记处的1339例患有多种畸形的新生儿(约占所有畸形婴儿的8%)进行评估。作为特定综合征和异常组合,通报了696例(51.9%)。根据个体畸形情况,从439例通报有相关畸形的患者中识别出87例,从病理学家收集的尸检记录中识别出172例死产儿和婴儿死亡病例中的27例多种畸形。341名存活婴儿被正式转至“多种畸形中心”进行特殊检查。在129个合作家庭中识别出57名婴儿。该计划的益处包括:(i)特定综合征和异常组合的比例增加了12.8%;(ii)未明确的多种畸形发生率降低了56.6%;(iii)对多种畸形的检查可能是检测致畸剂最敏感的手段;(iv)发现了新生儿中预期染色体异常数量的50.5%;(v)全国范围内的多种畸形婴儿资料为阐明基因异常和新综合征提供了可能。