Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period.
During a 4 1/2-year period a special study of 207 consecutive perinatal deaths, including clinical, genetical, roentgenological and autopsy investigations, was undertaken with the aim of identifying inherited malformations with a high risk of recurrence to subsequent sibs. Fifty-three of the children dying perinatally were malformed. In 13 cases the cause of the malformation was purely genetic; 11 were caused by mutant genes of large effect, and two by chromosomal aberrations. Information from such a study provides a good basis for genetic counselling of the family.
D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D007226:Infant Mortality; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012306:Risk