Fig. 1: Schematic representation of the study.
From: Residual risk for additional recessive diseases in consanguineous couples
Approach 1 investigates the prevalence of recessive diseases in consanguineous pedigrees based on family history. Approach 2 investigates the prevalence of two or more recessive diseases in consanguineous pedigrees based on molecular analysis. Approach 3 considers the pregnancy outcomes in consanguineous couples who underwent targeted prenatal screening for a familial recessive variant. AR autosomal recessive.
