Posts Tagged ‘newborn screening’

September is Newborn Screening Awareness Month

Friday, September 5th, 2014

newborn-screening-picture1September is Newborn Screening Awareness Month. All babies in the United States get newborn screening. These tests look for rare but serious and mostly treatable health disorders. Babies with these disorders often look healthy. But unless the condition is diagnosed and treated early, a baby can develop lasting physical problems or intellectual disabilities, or may even die.

How is newborn screening done?

Newborn screening is done in 3 ways:
1. Most newborn screening is done with a blood test. Your baby’s provider pricks your baby’s heel to get a few drops of blood. The blood is collected on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s health provider.
2. For the hearing screening, your provider places a tiny, soft speaker in your baby’s ear to check how your baby responds to sound.
3. For heart screening, a test called pulse oximetry is used. This test checks the amount of oxygen in your baby’s blood by using a sensor attached to his finger or foot. This test is used to screen babies for a heart condition called critical congenital heart disease (CCHD).

When is newborn screening done?
Your baby gets newborn screening before he leaves the hospital, when he’s 1 or 2 days old. Some states require that babies have newborn screening again about 2 weeks later.

If your baby is not born in a hospital, talk to your baby’s provider about getting newborn screening before he is 7 days old.

How many health conditions should your baby be screened for?
Each state decides which tests are required. The March of Dimes would like to see all babies in all states screened for at least 31 health conditions. Many of these health conditions can be treated if found early.

Today all states require newborn screening for at least 26 health conditions. The District of Columbia and 42 states screen for 29 of the 31 recommended conditions. Some states require screening for up to 50 or more. You can find out which conditions your state screen for here.

Preemies and hearing loss

Wednesday, July 30th, 2014

baby's earNearly 3 in 1,000 babies (about 12,000) are born with some kind of hearing loss in the United States each year. Most babies get their hearing checked as part of newborn screening before they leave the hospital. Newborn screening checks for serious but rare conditions at birth.

If your baby doesn’t pass his newborn hearing screening, it doesn’t always mean he has hearing loss. He may just need to be screened again. If your baby doesn’t pass a second time, it’s very important that he gets a full hearing test as soon as possible and before he’s 3 months old.

The risk of hearing loss is significantly higher in babies born with a very low birth weight (less than 1500 grams). However, hearing loss can be caused by other factors, such as genetics, family history, infections during pregnancy, infections in your baby after birth, injuries, medications or being around loud sounds. See our article  to learn more about the different causes of hearing loss.

Possible treatments

Different treatments are available depending on your child’s level of hearing loss, his health, and the cause of the hearing loss. They include medication, surgery, ear tubes, hearing aids, cochlear implants, learning American Sign Language and receiving speech therapy.  The article on our website discusses each of these types of treatments.

If a child needs speech therapy, it can usually be provided through the early intervention program for babies and toddlers. Read this post to understand how to access services. The sooner your child gets help, the sooner language skills will emerge and improve.

If you need more detailed information, check out these sites:

Early Hearing Detection and Intervention (EHDI) Program

Individuals with Disabilities Education Improvement Act 2004 (IDEA 2004)  

Hearing loss treatment and intervention services

Note:  This post is part of the weekly series Delays and disabilities – how to get help for your child. It was started in January 2013 and appears every Wednesday. While on News Moms Need and click on “Help for your child” in the Categories menu on the right side to view all of the blog posts to date (just keep scrolling down). We welcome your comments and input.

 

Phenylketonuria (PKU)

Friday, July 25th, 2014

newborn-screening-picture1Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. All babies born in the United States are tested for PKU through the newborn screening program in their state.

What is phenylalanine? 

Phenylalanine is an essential amino acid. Amino acids are building blocks for proteins. Our bodies need amino acids for proper growth and development but we cannot make them on our own. We need to get them from food sources. Phenylalanine is found in most foods that contain protein. This includes beef, poultry, fish, soy products, eggs, cheese, etc.

Once phenylalanine is in the body, it is converted into tyrosine, another amino acid. Tyrosine is then used by the body in a variety of ways, including the formation of chemicals that are necessary for your brain to function properly.

Why is phenylalanine harmful for people with PKU?

If your baby is born with PKU, she cannot break down phenylalanine. Phenylalanine then builds up in the blood and interferes with normal brain development. Without treatment, babies born with PKU begin to have signs of the condition at about 6 months of age. These include:

  • Jerky movements in arms and legs
  • Seizures
  • Skin rashes
  • Small head size
  • Developmental delays and behavioral problems

What causes PKU?

PKU is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent. Sometimes a change in a gene can cause it to not work correctly. This change is known as a mutation.

Your baby has to inherit a mutation for PKU from both parents to have PKU. If she inherits the mutation from just one parent, your baby is called a PKU carrier. A PKU carrier has one copy of the mutation but doesn’t have PKU.

How is PKU treated?

If your baby is diagnosed with PKU, then she will need to be on a special diet that significantly reduces the amount of phenylalanine she consumes. Ideally the diet would begin in the first few days of life. Babies who have PKU may never show symptoms if they are transitioned to a low-phenylalanine diet soon after birth.

If your baby is diagnosed with PKU, she will need to maintain a low-phenylalanine diet for life. If she were to stop controlling her dietary intake of phenylalanine, changes in the brain would occur, even well into adulthood. Women who have PKU and wish to become pregnant need to be on a very well controlled diet in order to protect their baby during pregnancy.

If you have any questions about this topic or other pregnancy and newborn health issues, please email the Pregnancy and Newborn Health Education Center at askus@marchofdimes.org.

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.