Posts Tagged ‘newborn screening’

Watchdog group honors March of Dimes

Friday, February 28th, 2014

We are thrilled to announce that the March of Dimes is being honored as a top charity by Philanthropedia, a division of GuideStar. Philanthropedia is a web-based nonprofit group that rates charities according to their financial responsibility and outstanding work, helping donors to give wisely. Philanthropedia’s panel of 74 experts identified the March of Dimes as 1 of 16 high-impact nonprofits working in the field of people with disabilities, and named it second in that category.

“We are pleased and humbled to be cited by Philanthropedia experts as a top nonprofit in our field,” says Dr. Jennifer L. Howse, president of the March of Dimes.

Starting in 1955 with a signature victory to eliminate polio in the United States, the March of Dimes has led many successful public health campaigns that improved infant health, including:

• Reducing serious birth defects of the brain and spine by 26 percent through folic acid fortification of the nation’s grain foods in the late 1990s;

• Bringing mandatory newborn screening programs to every state to ensure that each baby is tested for more than 30 conditions that, if undetected and untreated, can lead to serious disability or death;

• Launching a nationwide prematurity prevention campaign. The March of Dimes recently announced that the U.S. preterm birth rate dropped for the sixth consecutive year in 2012 to 11.5 percent, a 15-year low.

In addition to this new honor, the March of Dimes is a Better Business Bureau Accredited Charity and meets all 20 standards listed on the BBB Wise Giving Alliance Web site Give.org.

“We are very proud of our fiscal stewardship,” added Dr. Howse. “We receive financial support from more than 3 million volunteers, thousands of corporate sponsors, and state and federal agencies. With this support, we fund the innovative research, education, and community programs that are designed to deliver results and bring us closer to that day when every baby in every community is born healthy.”

Critical congenital heart disease, CCHD

Thursday, February 13th, 2014

Critical congenital heart disease (also called CCHD) is a group of the seven most severe heart defects present at birth. They may affect the shape of a baby’s heart, the way it works, or both. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

About 4,800 babies in the U.S. each year are born with CCHD. These seven heart defects are part of CCHD: Hypoplastic left heart syndrome (HLHS); Pulmonary atresia (PA); Tetralogy of Fallot (TOF); Total anomalous pulmonary venous return (TAPV, or TAPVR); Transposition of the great arteries (TGA); Tricuspid atresia (TA); Truncus arteriosus.

February 7-14 is Congenital Heart Defects (CHD) Awareness Week. The March of Dimes is working to help identify and understand these defects through research. We also are advocating Congress to reauthorize the Newborn Screening Saves Lives Act. To learn more about these CCHDs, several other types of congenital heart defects, possible causes and risk factors, and treatment options, read our article at this link.

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.

Sickle cell disease and the March of Dimes

Tuesday, February 26th, 2013

sickle cell screening, 1972Sickle cell disease is a genetic blood disorder in which round red blood cells take on a characteristic abnormal, curved “sickle” shape. African-Americans and others from tropical sub-Saharan Africa are most susceptible to this disorder, which can cause intense pain, high blood pressure, stroke, damage to vital organs, and the risk of serious infection. March of Dimes research involvement into the causes and prevention of sickle cell disease dates back to the polio era, when the chemist Linus Pauling discovered that the disease results from an abnormality in molecules of hemoglobin, which carries oxygen from the lungs to the rest of the body. Dr. Pauling’s 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 received one of the earliest basic research grants from the March of Dimes, and he was awarded the Nobel Prize in Chemistry in 1954. His work laid thegroundwork for techniques used in newborn screening and the diagnosis of sickle cell disease today.

After the March of Dimes changed its mission to birth defects prevention in 1958, sickle cell disease again came to the forefront of concern as a significant, but treatable, genetic disorder. The Foundation supported several lines of research: one was a medication that prevents red blood cells from “sickling;” another was giving daily antibiotics to affected infants and toddlers to prevent life-threatening bacterial infections; a third was bone marrow transplantation, used to cure other genetic blood disorders as well as severe sickle cell disease. The Foundation helped to establish one of the first pediatric clinics in the U.S. to care for infants and children with sickle cell disease at the Mt. Sinai Medical Center in New York City in the late 1970s. This center provided medical services, social and psychological support, genetic counseling and education needed by children with sickle cell disease as well as their families and communities. March of Dimes researchers investigated the effectiveness of innovative drug treatments and a multi-disciplinary team approach to caring for infants and children affected by the disease.

For over 50 years the March of Dimes has focused on treatment of sickle cell disease in its quest to prevent all birth defects. In 1982, March of Dimes grants led to the development of a safe and accurate prenatal test for the disease, and even today our grants support cutting-edge medical research. We hope to understand the molecular pathways of cellular development, to determine the risk factors inherent in the disease to prevent other infections, and to explore innovative gene therapies to eliminate the risks of leukemia in those affected by the disease. These are just a sampling of some of the ways we strive for “stronger, healthier babies” in our 75th anniversary year.

Blood disorders chat: Can I pass this on to my child?

Monday, October 15th, 2012

althea-grantDid you know that millions of people carry genes for various blood disorders? Many of these people will live normal, healthy lives without serious complications. However, some may experience some complications under certain conditions.  Many people are unaware of their carrier status or family health history. With all the misinformation out there about blood disorders, it’s easy to get confused.

Please join us for an online chat about blood disorders, the importance of carrier status, family health history, pregnancy, and newborn screening. Dr. Althea Grant will be answering your questions and debunking myths and misconceptions about carrier issues related to:

Bleeding and clotting disorders
•             Hemophilia
•             Blood clots
•             Von Willebrand disease

Hemoglobinopathies
•             Sickle cell disease
•             Thalassemia

Meet us on Twitter and join the conversation “Removing the Knowledge Barriers When it Comes to Information on Carriers” on Thursday, Oct 18th at 1 PM EDT. Be sure to use #pregnancychat to follow the chat and ask questions.  

Dr. Althea Grant is the Acting Director of the Division of Blood Disorders, National Center for Birth Defects and Developmental Disabilities. Dr. Grant has been recognized for her contributions to developing public health programs and resources for sickle cell disease and sickle cell trait.

Chat on newborn screening

Monday, March 19th, 2012

newborn-screening-picture1Newborn screening reaches every baby born in the U.S., over 4 million babies each year. But, do you know what newborn screening is and why it’s important? Do you know that not all states screen for the same things? Do you know how to find out what your state screens for?

Chat with us and our guest, Baby’s First Test, on Tuesday, March 20th at 1 PM, EDT. Join us online on Twitter and ask your questions, and be sure to use #pregnancychat to participate and see the full conversation.

Chat about rare diseases

Tuesday, February 21st, 2012

rare-disease-dayMost rare diseases or disorders are serious, many are chronic or lifelong, and about 2/3 of the patients are infants or children. Although people with rare disorders face different medical obstacles, rare disease patients all over the world face the same type of medical, social and economic challenges related to their disorders. 

Join us and our guests from NORD, the National Organization for Rare Disorders, for a live #pregnancychat about living with and finding help for rare diseases. We’ll be on Twitter this Thursday, Feb. 23rd at 1 PM EST.

While there are approximately 7,000 diseases considered rare in the U.S., only about 200 of these have FDA-approved treatments. Only a very few can be detected with newborn screening. Almost 30 million Americans have rare diseases.  In addition, 30 million Europeans and millions more around the world struggle with them.

Join our chat to learn more and to find out how you can help focus attention on this public health concern on Rare Disease Day, February 29th. Together, in solidarity, the international rare disease community can build a better world for rare disease patients.

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.

New screening test for CCHD

Friday, September 23rd, 2011

Dr. Jennifer L. Howse, president of the March of Dimes, today issued the following statement on adding a new screening test for newborns to the Secretary of Health and Human Services’ Recommended Uniform Screening Panel:

“Today, based on the recommendation of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, and the approval of Secretary Kathleen Sebelius, the March of Dimes will add critical congenital heart disease (CCHD) to the list of newborn screening tests we recommend, for a total of 31 conditions.

“The Secretary’s acceptance of the CCHD test is good news for babies and families.  The March of Dimes is the only consumer group in the country with a recommended list of newborn screening tests.  We will work with every state and the District of Columbia to ensure this test is given to every child at birth. 

“Heart defects are the most common birth defects in the United States, and about 4,800 (or 11.6 per 10,000) babies born every year have the life-threatening heart conditions known collectively as CCHD.  Routine pulse oximetry to measure oxygen levels can successfully identify newborns with CCHD before the babies die suddenly or even begin to show symptoms.  Early detection will give doctors the chance to intervene and save babies’ lives.  We urge every state to educate parents prospectively about the benefits and availability of newborn screening.

“The March of Dimes is the leader in advocacy for comprehensive newborn screening for all babies in the United States, regardless of where they are born.  Our policy is to support screening for specific conditions when there is a documented medical benefit to the affected infant from early detection and treatment; there is a reliable screening test for the disorder; and early detection can be made from newborn blood spots or other specific means.

“Newborn screening is a rapidly changing field.  We know that expert opinion on newborn screening will continue to evolve as medical evidence mounts, and we continue to stand ready to update our recommendations as needed to the states and to the public.”