Proposal for Epidemiologic and

Genetic Study of Congenital Malformations

Principal investigators:  Dr. N. C. Myrianthopoulos, PRB
               Dr. Heinz Berendes, PRB

Collaborators:  Dr. C. S. Chung, University of Hawaii

I.  Objectives

  The objective of the study ff fivefold:

'4. ,

1) To study the epidemiology of all congenital malformations which

occurred in children of Collaborative Study mothers at 'birth and at one

year of age.

2) To test the hypothesis of quasi-continuous distribution as an

inheritance mechanism for most malformations.

3) To assess the genetic load due to congenital malformation utilizing

the information on inbreeding.

4) To test the etiologic significance of several medical, genetic and

socioeconomic factors in the occurrence of selected malformations.

5) To explore more fully previous findings suggesting a relationship
                                                     o

of diabetes in the mother with the occurrence of congenital heart disease     .

and possibly other malformations in the offspring.

II.  Background

!

  Numerous epidemiologic studies of congenital malformations exist in the
literature, some containing information on racial and regional variation
(Gittelsohn and Milhsm, 1965, Hewitt, 1965) but the majority-of these were