Posts Tagged ‘metabolic disorders’

Newborn screening and the March of Dimes

Tuesday, October 15th, 2013

newborn-screening-picture1This year, the March of Dimes and other health organizations are commemorating the 50th anniversary of newborn screening. In 1959, the March of Dimes began to explore newborn screening (NBS) as a means to detect and prevent the catastrophic consequences of metabolic conditions such as PKU (phenylketonuria) on a large scale. Subsequently, we funded research into several genetic and metabolic diseases that can be tested at birth, expanding the concept of newborn screening as an essential component of maternal/child health care delivery. We have worked tirelessly to promote expanded newborn screening programs in every state and to obtain federal guidelines for newborn screening, which has improved and saved the lives of countless thousands of affected children.

Linus Pauling (1901-1994), winner of the Nobel Prize in Chemistry in 1954, received one of the earliest basic research grants awarded by the March of Dimes. Dr. Pauling proposed the concept of molecular disease, using sickle cell anemia as a model. His finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Dr. Pauling’s work laid the groundwork for the techniques used in newborn screening and diagnosis of sickle cell anemia.

Robert Guthrie, MD (1916-1995) was a March of Dimes grantee who developed a simple blood test to detect PKU, a cause of brain damage and intellectual disability. Dr. Guthrie refined an earlier PKU test, making it possible to analyze a dried spot of blood on filter paper instead of a liquid blood sample, an easier and inexpensive method that could be used on a mass scale. His breakthrough ushered in an era of state-mandated newborn screening programs. In 1963, Massachusetts became the first state to pass a law making the Guthrie PKU test mandatory, and New York followed soon after. The year 1963 marks the birth of state-mandated newborn screening, whose 50th anniversary we recognize this year.

The March of Dimes went on to award grants to develop inexpensive screening tests for congenital hypothyroidism, congenital adrenal hyperplasia, and biotinidase deficiency. In 1992, we called for every state to establish built-in safeguards for their newborn screening programs so that babies born with potentially catastrophic but treatable metabolic disorders would get help in a timely fashion. In 2000, we proposed a national standard for NBS and applauded an American Academy of Pediatrics review for improvements to the nation’s newborn screening programs, insisting that the primary consideration should be the health of the infant.

In 2008, Congress passed the Newborn Screening Saves Lives Act which established national guidelines on what conditions should be tested in newborn screening programs. The March of Dimes actively advocated in favor of its passage. At present, we promote 31 core conditions for newborn screening based on the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.

Understanding newborn screening results

Tuesday, August 6th, 2013

newborn-screening-picture1Before your baby leaves the hospital, he or she has some special tests called newborn screening. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening.

A baby can be born with a health condition but may not show any signs of the problem at first. If these conditions are found early with newborn screening, they can often be treated. All babies in the United States get newborn screening. But each state decides which tests are required. You can find out which conditions are tested for by your state here.

In most cases after your baby has had the newborn screening tests done, you won’t hear anymore about them. Most newborn screening results are normal and if that is the case, families are not contacted again. But you can always ask your baby’s health care provider for the results.

In rare cases when your baby’s screening results aren’t normal, you will receive a phone call about 2-3 weeks following the screening. This call can come from either the state newborn screening program or your baby’s health care provider and it usually means that your baby simply needs more testing.

A “positive” or “out-of-range” result means that the baby’s screening did indicate that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby has been diagnosed with a medical condition. In fact, most babies who receive positive results ultimately do not have a condition. However newborn screening tests are not diagnostic and therefore follow-up testing must be done.

If you do get one of these phone calls, don’t panic. Remember that most babies with out-of-range newborn screens are healthy and have normal follow-up test results. But it is important to get the follow-up testing done right away. One of the reasons these conditions have been chosen to be a part of newborn screening is because there is some intervention that can be done to help the baby. So the sooner you find out the results of a diagnostic test, the sooner treatment can begin, if necessary, and that is better for your baby.

Newborn screening

Wednesday, September 28th, 2011

Ever wonder why there is a band-aid on your baby’s heel so soon after birth?  It’s one of your baby’s first tests.  Every state and U.S. territory routinely screens newborns for certain genetic, metabolic, hormonal and functional disorders. These disorders are rare but serious and if caught early, can be treated.  Your baby’s first blood test is part of newborn screening which also includes a hearing test.  The latest recommendation is for pulse oximetry testing for critical congenital heart disease, CCHD.

Babysfirsttest.org is a new website for new moms and moms-to-be to learn about newborn screening. At http://www.babysfirsttest.org/  you will find trusted information, including videos, such as this newest one produced by the March of Dimes, ‘Learning about newborn screening.’

The March of Dimes has been working with Genetic Alliance this past year to develop this one stop shop for information and resources about newborn screening. Be sure to check out babysfirsttest.org.