36 year G2 P1 comes for antenatal visit at 10 weeks gestation. Her first child was female with ambiguous genitalia at birth, died at 6 months of age due to metabolic problem. Since this is her precious pregnancy, How would you counsel regarding risk of having child with ambiguous genitalia
High-Yield Explanation
This case scenario is suggestive of congenital adrenal hyperplasia. This is autosomal recessive disorder.
So, if any couple has had one affected child, subsequent baby has 1 in 4 chance of having similar disability.