Newborn Screening

After a pregnancy full of appointments and tests, nothing is more exciting than taking your new baby girl or boy home from the hospital! However, before being discharged there is one more important test that should be completed before heading home.

Newborn screening is a routine test that can identify certain conditions that may affect a baby’s long-term health and survival. Within 24 – 48 hours of delivery a nurse will draw a few drops of blood by pricking your infant’s heel. That blood is then sent off to a certified newborn screening lab that can analyze it for a number of different disorders including hormonal issues, metabolic disorders, and blood disorders. Additionally, as part of the screening process, all babies should be tested for hearing loss prior to discharge.

There are a number of potentially devastating diseases that your newborn could have, and often times these disease do not cause a baby to exhibit any physical symptoms at birth. Early detection is the best line of defense, and the newborn screening program allows parents to receive important information before serious complications can arise.

If parents choose to forgo these tests, many diseases will not be detected, potentially leading to serious medical problems as the baby gets older. One example of such an illness is phenylketonuria (PKU), a condition in which the body is unable to break down a building block of protein known as phenylalanine (Phe), because a specific enzyme is lacking or present in levels too low to be effective. When this amino acid builds up in the system it can cause problems with the central nervous system, brain damage, and mental retardation. Luckily, when PKU is discovered through newborn screening, a child can be treated using special medical foods that are designed to limit the amount of Phe consumed. In most cases this allows the baby to grow up normally, enjoying a life free of mental retardation and central nervous system issues.


While PKU was the first disease to be screened for in newborns, there are numerous other diseases that are now included as part of the standard testing. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), cystic fibrosis (CF), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and congenital deafness (HEAR) are just some of the routine diseases included in the newborn screening. You can view a complete list of all conditions tested for in California here.


While it can be scary to receive a diagnosis before you newborn is even released from the hospital, early detection allows your baby to have the best shot at a long and healthy life. Learn more about newborn screening by visiting The Save Babies Through Screening Foundation.

Photo courtesy of Flickr user Bridget Coila


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