Question
How is phenylketonuria screened?
Answer
The screening for phenylketonuria primarily involves carrier genetic testing and prenatal diagnosis to prevent the birth of children with phenylketonuria. Specifically, it is recommended that mothers undergo amniocentesis between 16 to 20 weeks of pregnancy to extract fetal cells from the amniotic fluid and test for mutations in the phenylketonuria gene. For newborns, it is suggested to collect heel blood 3 days after changing diapers, apply it to a thick filter paper, dry it, and then send it to the screening center for testing.