Patient's question:
I am 30 weeks pregnant. There is a history of phenylketonuria in his family, but it is from his grandparent's generation. Neither my husband nor I have it. During the prenatal check-up locally, the doctor recommended a screening for phenylketonuria. The test at the county hospital showed phenylketonuria, and the doctor advised us to go to a prestigious hospital for a definitive diagnosis.What kind of help is needed: What is the principle of hemolysis in phenylketonuria?
Doctor's answer:
The hereditary pattern of phenylketonuria is autosomal recessive, and genetic testing can be used to detect it since it is a genetic disorder. Phenylketonuria can be detected through amniocentesis. First, the mutation sites of the blood disorder gene in the blood cells of the couple are tested, which is the prerequisite for prenatal diagnosis of phenylketonuria. Then, at 16 to 20 weeks of pregnancy, amniotic fluid is extracted from the mother and tested to see how many mutation sites of the blood disorder gene are present in the fetal cells. If there are two mutation sites of the blood disorder gene, it indicates a child with phenylketonuria. If there is only one mutation site of the blood disorder gene, it indicates a carrier of the blood disorder gene. The incidence rate is low, but it is still possible for it to be inherited to the next generation.