Question

My baby is fine in all other aspects, but the PHE column in the newborn disease screening shows NULL. The medical staff has not called to inquire about this. I am somewhat confused about this result and am not sure whether I should further consult a doctor.

Answer

Newborn disease screening typically includes tests for hypothyroidism, phenylketonuria, and glucose-6-phosphatase deficiency. When the PHE result shows NULL, it may indicate that the phenylalanine test was ineffective. This does not mean that the phenylalanine test result is negative, but rather that it may be due to operational issues or other reasons causing the test to be ineffective. For more detailed explanations, it is recommended to consult the hospital where the screening was conducted.