We had so many tests during pregnancy looking for genetic disorders. Why wasn’t PKU detected?
PKU testing is not one of the blood tests that might have been offered to you during pregnancy. There is not a simple, inexpensive and accurate way to perform carrier testing on people who have no family history of PKU. A CVS or amniocentesis cannot routinely detect PKU (or most other genetic disorders). An amniocentesis or CVS that is performed because a woman is over 35 years of age or because of an abnormal blood test will not test for PKU. Babies with PKU do not have any physical differences and thus, an ultrasound cannot detect PKU.
