Neonatal Nurse Practitioner Practice Exam

Neonates born to mothers with uncontrolled phenylketonuria (PKU) are at increased risk for?

1. Cardiac defects

2. Microcephaly

3. Prematurity

4. Hypoglycemia

The correct answer is: Microcephaly

Neonates born to mothers with uncontrolled phenylketonuria (PKU) are indeed at increased risk for microcephaly. PKU is a genetic disorder that leads to the accumulation of phenylalanine in the body due to a deficiency in the enzyme phenylalanine hydroxylase. When a pregnant woman has uncontrolled PKU, elevated levels of phenylalanine can cross the placenta and adversely affect fetal development. Microcephaly is characterized by a smaller head size which can be associated with decreased brain growth and potential neurological issues. Studies have shown that infants born to mothers with high levels of phenylalanine during pregnancy are at significant risk for this condition, as elevated phenylalanine can interfere with the development of the brain. Therefore, it is crucial for women with PKU to maintain a strict low-phenylalanine diet before and during pregnancy to reduce the risk of adverse outcomes like microcephaly. While other risks associated with uncontrolled PKU during pregnancy do exist, such as cardiac defects and developmental delays, microcephaly is one of the most documented and significant concerns for the neonate when maternal PKU is not well managed. This highlights the importance of dietary control and medical supervision in expect