Population surveillance of sentinel anomalies.
Three types of indicator conditions, namely sentinel anomalies, Down syndrome and pair-wise evaluation of component congenital anomalies in unidentified multiple congenital abnormalities, are evaluated continuously in Hungary. This paper summarizes some data of the Hungarian Surveillance of Sentinel Anomalies (1980-1987). The observed rate of 15 sentinel anomalies was 3.7 per 10,000 live births. An average of 35 new mutations per 100,000 live births was found annually. This database is appropriate for the estimation of mutation rates in these sentinel anomalies. The mean maternal age did not differ significantly in comparisons of either sporadic vs. familial cases or sporadic vs. matched control cases. However, the mean paternal age was significantly higher in the sporadic cases than in the familial and matched control cases. The analysis of environmental histories in sporadic cases is in progress.
Czeizel
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Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000235:genetics; D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D006814:Hungary; D008297:Male; D008423:Maternal Age; D009154:Mutation; D010331:Paternal Age; D010641:Phenotype; D011159:Population Surveillance; D012307:Risk Factors