Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births.
Ann Genet
; 42(3): 133-9, 1999.
Article
em En
| MEDLINE
| ID: mdl-10526655
ABSTRACT
The risk for birth defects in the offspring of first-cousin matings has been estimated to increase sharply compared to non consanguineous marriages. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies we tried to answer to this question. In the population studied in North-Eastern France a consanguineous mating was known in 1.21% of the cases with congenital anomalies, vs. 0.27% in controls, (p < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity out of 89 malformed children, 51 were seen in first-cousins mating (10.3 times more frequent than in offspring of non consanguineous couples), 17 in second-cousins marriages and 18 in more distant relatives mating. Three were uncle-niece marriage. Excluding known mendelian conditions these numbers were 73, 36, 17 and 17 respectively and the corresponding relative risk were 3.68, 3.01, 3.41 and 4.89 respectively. Therefore there is a negative dose-response effect between level of inbreeding and risk of congenital malformations. Consanguineous mothers were more often pregnant than non consanguineous mothers (p < 0.01) and they had more stillbirths than non consanguineous mothers. These results show that consanguinity is still a factor of birth defects and they must be taken into account for genetic counseling of inbred marriages, in developed countries.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pais
/
Anormalidades Congênitas
/
Consanguinidade
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ann Genet
Ano de publicação:
1999
Tipo de documento:
Article