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.