Posts Tagged ‘newborn screening’

What is newborn screening?

Wednesday, September 20th, 2017

Newborn screening looks for rare but serious and mostly treatable conditions. Babies with these conditions often look healthy at birth, but if the disorder is not diagnosed and treated early, a baby may develop serious health problems. Newborn screening identifies babies with these conditions so they can get the treatment that they need. Newborn screening includes blood, hearing and heart tests.

When is newborn screening done?

All babies in the United States get newborn screening before they leave the hospital, when they are 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 her provider about getting newborn screening before she is 7 days old.

What happens if your baby is in the NICU?

Babies in the NICU may require a special process for newborn screening. If your baby is born prematurely, at a low birthweight, or needs special care in the NICU, it’s possible that some of the treatments and procedures she’s receiving may affect newborn screening results. Often, babies born early will require more than one newborn screening blood draw to make sure that the results are accurate. Talk to your baby’s NICU team if you have questions about newborn screening.

How is newborn screening done?

Newborn screening is done in 3 ways:

  1. Your baby’s baby’s heel is pricked 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, the 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). CCHDs are the most severe heart defects. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

When will you get the results?

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

In rare cases when the screening results are out-of-range, 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.

How many health conditions should your baby be screened for?

The March of Dimes would like to see all babies in all states screened for at least 34 health conditions. Many of these health conditions can be treated if found early. Each state decides which tests are required. You can find out which conditions your state screen for here.

Have questions? Email us at AskUs@marchofdimes.org.

What is tetralogy of Fallot?

Friday, May 5th, 2017

You have probably heard about Jimmy Kimmel’s baby, Billy, being born with a critical congenital heart defect called tetralogy of Fallot (TOF). Fortunately, Billy received lifesaving heart surgery and is home from the hospital, reportedly doing well.

Congenital heart defects are the most common types of birth defects. Nearly 1 in 100 babies (about 1 percent or 40,000 babies) is born with a heart defect in the United States each year. And critical congenital heart disease (CCHD) is a group of the seven most severe congenital heart defects. About 4,800 babies each year are born with a CCHD. Babies with CCHD need treatment within the first few hours, days or months of life. Without treatment, CCHD can be deadly.

TOF is a rare congenital heart defect that affects about 1,660 babies each year in the United States. Babies born with this condition actually have four different problems with their heart. According to the CDC, they are:

  1. A hole in the wall between the two lower chambers―or ventricles―of the heart. This condition also is called a ventricular septal defect.
  2. A narrowing of the pulmonary valve and main pulmonary artery. This condition also is called pulmonary stenosis.
  3. The aortic valves, which opens to the aorta, is enlarged and seems to open from both ventricles, rather than from the left ventricle only, as in a normal heart. In this defect, the aortic valve sits directly on top of the ventricular septal defect.
  4. The muscular wall of the lower right chamber of the heart (right ventricle) is thicker than normal. This also is called ventricular hypertrophy.

Signs and Symptoms

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

  • Fast breathing
  • Gray or blue skin coloring (also called cyanosis)
  • 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 (unusual sounds heard during a heartbeat)

Diagnosis

TOF can be diagnosed during pregnancy or after birth. During a prenatal ultrasound a doctor may be able to determine that there is a problem with the baby’s heart. A fetal echocardiogram (an ultrasound of just the heart) would then be ordered for further testing. An echocardiogram is an ultrasound of the baby’s heart that can show problems with the structure of the heart and how the heart is working.

However, TOF is usually diagnosed after the baby is born. In most cases, health care providers detect a heart murmur (often a “whooshing” sound heard between heartbeats) or cyanosis (baby’s skin turns blue).

To confirm the presence of a CCHD, a health care provider will order an echocardiogram.

TOF and CCHD can also be detected with newborn screening. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. All states require newborn screening, but they don’t all require screening for CCHD. Babies are screened for CCHD with a test called pulse oximetry (also called pulse ox). This test checks the amount of oxygen in your baby’s blood using a sensor attached to his finger or foot.

Treatment

Babies born with TOF need to have surgery soon after they are born to widen the pulmonary valve. This allows the blood to reach the lungs and become oxygenated. They will also correct the hole between the lower chambers of the heart. And additional surgeries to replace valves may also be required.

Most babies born with TOF go on to be active and healthy, but they will need to be followed by a cardiologist throughout their lives. We’re glad Jimmy Kimmel’s baby received prompt care and continues to do well.

Research

Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant and most of the time, there is no known cause of a congenital heart defect. That is why many March of Dimes grantees are pursuing a variety of approaches aimed at preventing heart defects and improving their treatment.

Developmental screenings are helpful for early diagnoses

Monday, April 10th, 2017

doctor-and-babyBefore your baby leaves the hospital, he receives a series of tests called newborn screening. These tests look for serious but rare conditions, including blood, hearing and heart disorders. If a problem is discovered through newborn screening, your baby may receive treatment and often avoid a more serious health problem. Early diagnosis is critical in detecting certain medical conditions.

Other screenings occur after your baby is home from the hospital

Between birth and age 3, your baby goes through incredible changes. He is growing and developing every day. To be sure that your baby is “on track,” your baby’s healthcare provider will check his developmental milestones at each well-baby visit.

These milestones are the major achievements in your child’s life. They include smiling, babbling, rolling over, sitting up, crawling, reaching grabbing, talking, walking and other accomplishments. Parents can check milestones, too. Here is a list of behaviors to look for at specific ages.

If either you or your baby’s provider are concerned that your baby is not progressing well, you can request a developmental screening. It is free as part of the federally funded early intervention program. Similar to newborn screening, this screening helps to identify potential health or developmental problems early.

If your child qualifies, the early intervention program may include services such as speech therapy, physical or occupational therapy, or even a special preschool setting. Early intervention can be enormously helpful in helping your child improve. And, the sooner you begin intervention, the sooner your baby can reach his full potential.

One example of a diagnosis where early intervention is particularly important is Autism. April is autism awareness month, a time to remember that this developmental disorder affects 1 in 68 children in the U.S. Officially called autism spectrum disorder or ASD, it is a developmental disability that can cause social, communication and behavior challenges – from mild to severe. This is why it is referred to as a “spectrum” disorder.

ASD can be difficult to diagnose because there is no medical test, like a blood test, to give a definite answer as to whether your child has it or not. Usually, children with ASD start showing signs or symptoms of the disorder in their toddler or preschool years, and some babies show signs in their first year of life. For this reason, taking your child for regular visits with his healthcare provider is particularly important so that his development can be monitored. If your child needs early intervention services, getting it early is key in helping him progress.

Bottom line

There is a wide range of “typical development” for children. But, if you are concerned about your child’s progress or feel he is delayed in reaching his milestones, talk to his healthcare provider sooner rather than later.

You can find more information in our series on Delays and Disabilities: How to get help for your child.

Remember – don’t delay with delays.

Have questions? Text or email AskUs@marchofdimes.org

Hearing loss in babies

Wednesday, December 2nd, 2015

baby's hearing testHearing impairment is the decreased ability to hear and discriminate among sounds. It is one of the most common birth defects.

We’re not sure what causes hearing loss in babies. Some possible causes are genetics (if you or your partner has a family history of hearing loss), viruses and infections during pregnancy, premature birth, low birthweight (less than 5.8 pounds), and infections after birth.

There are degrees of hearing loss, too. A baby can have mild, severe or complete hearing loss. Other times a child can hear but the sounds are garbled. Hearing loss is a common birth defect affecting 12,000 babies in the U.S. each year (nearly 3 in 1,000). If a child can’t hear properly, he may have trouble learning to talk.

Newborn screening

Ideally, your baby should have his hearing tested as part of the newborn screening tests which are done in the hospital after your baby is born. The CDC recommends that all babies be screened for hearing impairment before 1 month of age. Language and communication develop rapidly during the first 2 to 3 years of life, and undetected hearing impairment can lead to delays in developing these skills. Without newborn screening, children with hearing impairment often are not diagnosed until 2 to 3 years of age. By then, they have lost precious time to develop speaking skills. A timely diagnosis is important!

Getting help

If you have any concerns about your child’s hearing, don’t wait – have a conversation with his healthcare provider (a pediatrician or nurse practitioner). Here are other options:

  • Every state has an Early Hearing Detection and Intervention (EHDI) program. You can click here or call 1-800-CDC-INFO to locate your local EHDI program for services and information.
  • The CDC’s National Center on Birth Defects and Developmental Disabilities has a website on hearing loss in children, with specific pages for families, health care providers and others. The site contains information on prevention, signs and symptoms, screening and diagnosis, treatment of hearing loss, as well as statistical data on hearing loss. If you have any concerns about your child, start with the “Basics” and “Treatments” sections.
  • Additional resources and support networks related to hearing impairment and deaf children can be found here.
  • If your baby has a hearing impairment,  he may benefit from early intervention services, such as speech therapy. Learn how to access early intervention services in your area.

Bottom line

If your child has been diagnosed with hearing loss, getting help early is very important – preferably before 6 months of age.

Have questions: Text or email us at AskUs@marchofdimes.org.

Photo credit:  Baby’s First Test

Newborn screening: a personal story

Friday, September 4th, 2015

All babies in the United States get newborn screening before they leave the hospital. Newborn screening looks for rare but serious and mostly treatable health disorders. Babies with these disorders often look healthy. But if the condition is not diagnosed and treated early, a baby can develop lasting physical problems or intellectual disabilities, or may even die.

The federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recently voted to recommend adding X-linked adrenoleukodystrophy (X-ALD) to the Recommended Uniform Screening Panel (RUSP).  This recommendation now needs to go to the Secretary of Health and Human Services for her review and consideration.

X-ALD is a genetic disorder that occurs mostly in boys. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is broken down. This reduces the ability of the nerves to relay information to the brain. X-ALD can cause serious and permanent disability or death.  The only effective treatment is early identification by newborn screening, and stem cell therapy (bone marrow or cord blood transplantation), sometimes along with other life-saving treatments.

X-ALD is due to a gene change, or mutation, on the X chromosome. The X and Y chromosomes are responsible for gender. Girls have two X chromosomes (XX). They inherit one from their mom and one from their dad. Boys have an X and a Y chromosome (XY). They inherit the X from their mom and the Y from their dad. Since boys have only one copy of the X chromosome, they will have only one copy of the X-ALD gene mutation, and they will develop X-ALD. Because girls have two copies of the X chromosome, they will only have one copy of the gene mutation (inherited from their mom). A single copy of the altered gene usually does not cause any symptoms of X-ALD. Although some girls can have health problems associated with the condition, they are often mild and usually appear at a later age.

X-ALD has not been officially added to the Recommended Uniform Screening Panel. We will keep you updated. In the meantime, here is a very personal story about newborn screening and why it is so important:

 

 

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.