children s health issues
Phenylketonuria (PKU)
Diagnosis of PKU
Newborn screening test Prenatal screening tests Phenylketonuria is usually diagnosed with a routine Newborn Screening Tests . PKU occurs in most ethnic groups. If PKU runs in the family and DNA is available from an affected family member, the prenatal screening tests Amniocentesis or Parents and siblings of children with PKU can be tested to find out whether they carry the gene that causes the disease. If two carriers conceive a child, that child has a 1 in 4 chance of being born with the disease. Carrier Screening are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder. 