HGM2002 Poster Abstracts: 2. Chromosome Structure and Epigenetic Mechanisms


    

POSTER NO: 78

Epidemiological surveillance of the congenital anomalies in Moldavian population in study of the genetic processes

E. Grigori, P. Stratulat, S. Groppa
Institute of Childhood and Motherhood Health Care, 93, Burebista, str.Chisinau, Moldova

Data from the Moldavian population-based National Registry of Congenital Anomalies in livebirths have been used to realize an epidemiological analysis of congenital anomalies (CA). The monitoring of CA in newborns comprise all population of Republic Moldova, where overall birth rate is approximately 50000 per year. The registration has been including livebirths (during the neonatal period) and stillbirths in maternitys. The registration covers 40 congenital malformations(CM), conform to ICD-10 BPA, 27 minor anomalies, multiple anomalies and syndromes. Identifying of CA made by mean of primary examination of the newborns by maternity's neonatologists. Newborns with this CA carried out verification of the diagnosis by different instrumental and laboratory methods, and consulting by geneticist and other specialists in the facilities for newborns in Institute of Childhood and Motherhood Health Care. Active case-finding and multiple sources of information are used. Baseline prevalence was estimated based on all observations except for the two years and the last year of the registry and include the period 1991-1995. Prevalence is expressed per 10000 births. Peculiarity of ecological situation in republic is intensive agricultural pesticide exposure and contaminated area after the Cernobyl accidents in the period 1980-1990. Due to this for the population is actual studying the long-term genetic consequences of environment pollution. To find a possible relation between the increase in CA frequency and the increased level of gamete mutations we analyzed particular phenotypes of the 'model' anomalies: anencefaly, spina bifida, cleft palate, cleft lip with or without cleft palate, polydactyly, limb reduction, omfalocele, gastroshisis, esophageal and anorectal atresia, multiple anomalies, Down syndrome. Was studied 10291 cases of CA from 530760 birth during the period 1990 - 2000. The baseline prevalence of total CM was 188,9 per 10000 livebirth. Was established statistically significant increasing frequency of total CM from 144,3 per 10000 births in 1990 to 198,5 per 10000 livebirths in 2000 (p<0,001). The low statistically significant frequency of total CM (170,3 per 10000 births) was mentioned in 1991 (p<0,01) while the high frequency of CM was observed in 1995 - 215,3 per 10000 livebirths (p<0,01), 1996 - 229,4 per 10000 (p<0,01), 1997 - 224,3 per 10000 (p<0,01), 1998 - 217,1 per 10000 livebirths (p<0,01). The frequencies of Down syndrome as an indicator of germinal numerical mutation and other 'model' anomalies such as anencefaly, spina bifida, cleft palate, cleft lip with or without cleft palate, polydactyly, limb reduction, omfalocele, gastroshisis, esophageal and anorectal atresia were not increased in Moldova during the last eleven years (p>0,01). It is found the statistically significant increasing of frequency of polydactyly from 1,7 per 10000 in 1990 to 4,2 per 10000 in 2000 (p<0,001) and of multiple congenital malformations from 15,1 per 10000 in 1990 to 16,07 per 10000 in 2000 (p<0,01), that do not exclude the effect of an additional mutagenic factor on parental gametes.

    


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