Phenylalanine Hydroxylase Deficiency in Reproductive Women (ACOG C0 802)

Phenylketonuria is better known as Phenylalanine Hydroxylase Deficiency (PAH-D). This genetic condition can have significant implications for the reproductive age woman including adverse pregnancy outcomes and congenital fetal malformations. In April 2020, the ACOG will release a new committee opinion (802) on the management of women with PAH-D. What Maternal serum levels are optimal to prevent adverse obstetrical outcomes? Do these pregnancies require specific fetal evaluation? What are the other health implications of elevated phenylalanine levels? We will answer these questions more in this session.

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