Posts Tagged ‘newborn screening’

Maternal PKU

Friday, July 24th, 2015

newborn-screening-picture1PKU or phenylketonuria is a condition in which your body can’t break down an amino acid called phenylalanine.

In the US, about 3,000 women of childbearing age have PKU. A woman with PKU can have a healthy baby but it is very important that she stay on a special diet to control her phenylalanine intake while she is pregnant. According to MotherToBaby, babies born to mothers with untreated PKU (women who are not on the special diet) are commonly born smaller, have microcephaly (an abnormally small head), intellectual disabilities, behavior problems, facial features similar to those of fetal alcohol syndrome, and have higher risks of heart defects.

Managing PKU during pregnancy

If you have PKU and are planning to get pregnant, it is very important that you talk to your health care provider. Many people with PKU now maintain their special diets throughout life. But if you have not been following your PKU diet, it is best to return to your PKU meal plan at least 3 months before you try to get pregnant.

PKU meal plans are different for everyone because people with PKU can tolerate different amounts of phenylalanine. For this reason, it is very important that you talk to health care providers who are familiar with managing PKU during pregnancy. Blood tests throughout pregnancy can help to monitor your phenylalanine levels and make sure that they are not too high. And your prenatal care provider may order ultrasounds to monitor your baby’s growth.

Will my baby have PKU?

If you have PKU, your baby has a chance to have PKU. Your baby has to inherit a mutation for PKU from both parents to have PKU. Whether or not your baby will have PKU depends on if your partner has PKU or is a PKU carrier. (A PKU carrier has one copy of the PKU mutation but does not have PKU.)

  • If you and your partner both have PKU, your baby will have PKU.
  • If you have PKU and your partner is a carrier, than there is a 50% chance your baby will have PKU and a 50% chance your baby will be a PKU carrier.
  • If you have PKU but your partner does not carry the gene change for PKU, then your baby will be a PKU carrier but will not have PKU.

If you are not sure if your partner is a PKU carrier, there are tests available that can help you find out. A genetic counselor can better help you understand your chances of passing PKU to your baby.

All babies born in the United States are tested for PKU through the newborn screening program. Babies born with PKU are immediately placed on a special diet that significantly reduces the amount of phenylalanine they consume. Babies who have PKU may never show symptoms if they are transitioned to a low-phenylalanine diet soon after birth.

Questions? Send them to AskUs@marchofdimes.org.

 

World Sickle Cell Day

Friday, June 19th, 2015

mom and newbornSickle cell disease (also called SCD) is an inherited condition that affects the red blood cells. Red blood cells carry oxygen to the rest of your body. In a healthy person, red blood cells are round and flexible. They flow easily through the body’s blood vessels. However, a person with SCD has red blood cells that are shaped like a sickle (the letter C). These sickle-shaped cells are stiff and can stick to the walls of blood vessels. These sticky cells can cause a blockage that slows or stops blood flow which causes pain, infections and, sometimes, organ damage and strokes.

Sickle cell disease (SCD) affects millions of people throughout the world and is particularly common among people whose ancestors came from Africa, the Caribbean, Central America, Saudi Arabia, India, Turkey, Greece, and Italy. In the U.S., the exact number of people living with SCD is unknown. However, it is estimated that SCD affects 90,000 to 100,000 Americans.

Cause and diagnosis of SCD

SCD is inherited. This means it’s passed from parent to child through genes. To have SCD, you have to inherit a gene change for sickle cell from both parents. If you inherit the gene change from just one parent, you have sickle cell trait. This means that you have the gene change for SCD, but you don’t have SCD. When this happens, you’re called a carrier. A carrier has the gene change but doesn’t have the condition. Sickle cell trait cannot become SCD.

In the United States, testing for SCD is part of newborn screening. This allows babies who have SCD to be identified quickly and treated early. Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

Complications and treatment of SCD

The complications of SCD are different for each individual. Some children with SCD may be healthy but others may have problems. Pain episodes are one of the most common complications of SCD. They happen when sickle cells block blood flow. Pain can occur in organs and joints and it can last a few hours, a few days or even for weeks. Most children with SCD are pain free between these episodes, but adolescents and adults may have ongoing pain.

Although the body is always making new red blood cells to replace old ones, sickle cells do not live nearly as long as normal red blood cells. So the body has difficulty replacing red blood cells fast enough. A person with SCD doesn’t have enough healthy red blood cells to carry oxygen to the rest of his body. This is called anemia. Treatment depends on your child’s symptoms and may include antibiotics and blood transfusions.

Poor oxygen delivery over a lifetime can also result in damage to organs, such as the spleen, brain, lungs, and eyes.

A few children with SCD have been cured through stem cell transplant. However this is not an option for all people with SCD. In general, treatment options vary and depend on the specific symptoms.

Early diagnosis and regular medical care to prevent complications is very important. If you are thinking about becoming pregnant, you can talk to your health care provider about blood tests to determine if you and your partner are carriers for SCD.

Questions?  Send them to AskUs@marchofdimes.org.

Newborn screening for Pompe disease

Friday, March 20th, 2015

newborn-screening-picture1Early detection for Pompe disease through newborn screening will allow affected infants to receive prompt life-saving medical interventions. March of Dimes chapters across the country will be advocating for the addition of Pompe disease to newborn screening panels to ensure that all newborns can benefit from this potentially life-saving test.

The US Secretary of Health and Human Services recently added Pompe disease to the federal Recommended Uniform Screening Panel. Pompe disease can be identified using the traditional newborn screening dried bloodspot and this early identification will lead to earlier treatment.

What is Pompe disease?

Pompe disease is a rare inherited disorder that causes progressive muscle weakness. It is due to changes in the gene that produces an enzyme called GAA. This enzyme is responsible for breaking down sugars. Infants and children with Pompe disease cannot produce GAA. Therefore sugars accumulate in the muscles, and this causes the muscles to get weaker and not work the way they should. This muscle weakness affects feeding, weight gain, movement, and even the heart. Pompe disease occurs in about 1 in 28,000 people in the U.S.

Infants with Pompe disease can seem healthy at first, but without early medical intervention, the disease will progress rapidly. Many children with Pompe disease do not survive past the first year of life. However, research has shown that early detection and treatment of Pompe disease can lead to better outcomes.

Treatments, including enzyme replacement therapy (ERT), can lead to a longer life and fewer disease complications. But for ERT to be most effective, it must be started before the onset of severe symptoms. Research suggests that the success rate of ERT for Pompe disease is higher if a newborn can receive treatment within the first three months of life.

The March of Dimes supports screening all newborns for conditions placed on the Recommended Uniform Screening Panel. All the conditions included on the Uniform Screening Panel have shown that an affected infant benefits from early detection and treatment; there is a reliable screening test for the disorder; and early detection can be made from newborn bloodspots or other means.

Today is World Heart Day

Monday, September 29th, 2014

World Heart DayThis year the World Heart Federation is focusing on creating heart-healthy environments for you and your family. World Heart Day raises awareness of maintaining a healthy diet, limiting alcohol and tobacco use, and increasing physical activity.

World Heart Day is a good time to think about one of the most common birth defects – congenital heart defects. It affects 1 in 100 babies every year. These heart defects can affect the heart’s structure, how it works, or both.

Heart defects develop in the early weeks of pregnancy when the heart is forming. Severe congenital heart defects are usually diagnosed during pregnancy or soon after birth. Less severe heart defects often aren’t diagnosed until children are older.

What can you do?

We’re not sure what causes most heart defects, but things that may play a role include diabetes and obesity (being very overweight).

If you are trying to become pregnant or you are currently pregnant:

• Do not smoke

• Do not drink alcohol

• Talk to your provider about any medicine you take, including prescription and over-the-counter medicine, herbal products and supplements

• Maintain a healthy diet and exercise 30 minutes a day if you can

• Go to all your prenatal visits

After birth your baby may be tested for critical congenital heart defects (CCHD) as part of newborn screening before he leaves the hospital. All states require newborn screening, but not all require screening for CCHD. You can ask your provider if your state tests for CCHD or click here to see what your state covers.

After birth, signs and symptoms of heart defects can include:

• Fast breathing

• Gray or blue skin coloring

• Fatigue (feeling tired all of the time)

• Slow weight gain

• Swollen belly, legs or puffiness around the eyes

• Trouble breathing while feeding

• Sweating, especially while feeding

• Abnormal heart murmur (extra or abnormal sounds heard during a heartbeat)

If you see any of these signs, call your baby’s health care provider right away. For more information about congenital heart defects visit our website.

If you have questions, email us at AskUs@marchofdimes.org.

Click here to read more News Moms Need blog posts on: pregnancy, pre-pregnancy, infant and child care, help for your child with delays or disabilities, and other hot topics.

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.