Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.
During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.
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Stoll
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Roth
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Dott
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Bigel
D000015:Abnormalities, Multiple / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005602:France; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012042:Registries; D012306:Risk