Rare Disorders of Newborns

There are a group of 30 rare but treatable disorders that can affect newborns. These are called disorders of metabolism. If not detected and treated early in life mental retardation, physical disorders and even death can occur. All states require some newborn screening tests however few states test for the recommended 30 disorders of metabolism recommended by the March of Dimes and other advocacy groups. Fortunately parents in Massachusetts can have their babies tested for all of the 30 disorders 10 of which are mandatory and 20 are optional.

An Advisory Board made up of doctors, scientists, nurses, ethicists and members of the general public decides which tests should be included in the Newborn Screening Program. For a disorder to be part of the screening program it must be treatable, there must be a good test to screen for it and early medical treatment must benefit the newborn. The program works in Massachusetts because all newborns are screened even if there is no family history of a particular disorder. By state law parents can refuse testing for the 10 disorders that are part of routine newborn screening only for religious reasons.

There are two parts to the screening program in Massachusetts, routine screening and optional screening. The routine screening includes testing for disorders that can be treated with medication or by dietary changes. Congenital hypothyroidism, congenital toxoplasmosis, biotinidase deficiency and congenital adrenal hyperplasia are treated with medications. Dietary modification is needed to prevent serious illness, mental retardation and even death in newborns with phenylketonuria, galactosemia, "maple syrup" urine disease and medium-chain acyl Co-A dehydrogenase deficiency. Disorders of hemoglobin such as sickle cell disease are also detected so that treatment can help prevent complications such as serious infections.

The optional screening, part of a pilot study initiated in 1999 in Massachusetts, includes testing for cystic fibrosis and a set of 19 other metabolic disorders. Parents are asked if they want these tests in addition to the 10 mandatory tests. Cystic fibrosis occurs in approximately 1/3000 babies. It is common enough that women are offered screening to see if they are carriers for a gene that causes cystic fibrosis during or even before pregnancy. The other 19 tests are looking for certain disorders that that cause a chemical imbalance in the body. If not detected and treated they can lead to a buildup of toxic substances that can cause vomiting, salt and water imbalances, coma and even death. A full list of these conditions can be found on the March of Dimes web site www.modimes.org/professionals/681_1200.asp along with links to other sites with more detailed information.

Testing involves taking a few drops of blood from the baby’s heel. This is placed on a special card and sent to the state labs where the testing is performed. There is no charge to the parents for all 30 of the tests. The blood is taken about 48 hours after birth for the most accurate testing. Parents whose babies leave the hospital prior to 48 hours or are not born in a hospital should make arrangement to have the testing performed. Test results are sent to the hospital where they where performed. The hospital or baby’s doctor will inform parents if any abnormalities were detected. Typically further testing is then done to confirm the results of the screening tests.

In addition to blood tests for metabolic disorders it is also recommended that newborns be tested for hearing loss. The initial test is done at the hospital before babies are discharged and evaluates the baby’s ability to hear and identify babies who need further testing. If the initial evaluation shows a potential problem an audiologist will use more sophisticated testing to see if hearing loss exists. Language and speech development significantly benefit from early intervention in babies with hearing loss.

There have been multiple stories in the news media about babies in other states with severe illnesses that could have been prevented with a national newborn screening program. The cost of universal newborn testing is estimated to be less than $100 per baby screened. Surely this country can afford this cost to save babies lives. We are lucky that this testing is available for all babies born in Massachusetts. More information about the screening program in Massachusetts can be found at www.umassmed.edu/nbs/.