Patient's question:
I am pregnant for the first time and have no experience. I feel a bit scared, and I hope those who know can help me clarify things. I want to know how to screen for phenylketonuria?Doctor's answer:
Tests for acetonuria. The main tests include carrier gene testing and prenatal diagnosis, which are also ways to prevent the birth of children with phenylketonuria. It is recommended to extract amniotic fluid between weeks 16 and 20 of pregnancy and test whether the fetal cells in the amniotic fluid contain mutations of the blood disease gene. For newborns, it is recommended to collect the blood from the tip of the heel 3 days after changing diapers, spread it on a thick filter paper, dry it in the sun, and send it to the screening center for careful examination.