“What are diseases detected in newborn screening?”
My newborn is about to go get screened for any congenital diseases at the end of this week. What are some of the diseases that a newborn screening can find?
4 Answers
Extended screening gives information on many metabolic diseases
The number of diseases detected in newborn screening varies by states in US.
There are number of diseases screened based on routine neonatal screening. Even though there are many common disorders screened across all states, the individual state regulations determine which diseases are screened for the respective state.
In addition to the cyanotic congenital heart disease (CCHD) screen, infants usually have their hearing checked, and a blood sample is collected for a newborn screen which, depending on the state, can check sometimes up to 31 different condition, most important examples include thyroid and adrenal gland problems, blood problems like thalasemia, genetic problems such as cystic fibrosis, and metabolic conditions such as PKU (written on soda cans), and many others. Not all conditions are detected on a newborn screen, and not all newborn screens are true; some are false positive, but this is the best that is out there presently. In general, no news is good news for newborn screens.
