What Is Newborn Screening
Newborn screening is a state public health service that reaches each of the nearly 4 million babies born in the United States each year. It ensures that all babies are screened for certain serious conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen.
Newborn screening is performed soon after the birth of your baby, and in most cases, while you are still in the hospital. All it takes is a few drops of blood and a simple hearing test. Learn more about the testing process in the What To Expect section.
Newborn screening began in the 1960s when scientist Robert Guthrie, MD, PhD, developed a blood test that could detect whether newborns had the metabolic disorder, phenylketonuria . Since then, scientists have developed more tests to screen newborns for a variety of severe conditions. Screening tests are currently available for more than 60 disorders. However, there is variability in the number and types of conditions found on each states newborn screening panel, which is determined by each state public health department.
Where Can I Get More Information About Newborn Tests And Disorders
If you would like to get additional testing, you can find out more information from savebabies.orgYou can also call Baylor Medical Center at 1-800-4-BAYLOR or Mayo Medical Laboratories at 1-800-533-1710 where you can request a kit. These kits range anywhere from $25-$77 and test for 30-35 disorders.If you are interested in learning more about these disorders, you can contact the March of Dimes or National Newborn and Screening Resource CenterAlso, if you are planning to have a baby, you can get more information on genetic counseling and testing.
Newborn Blood Spot Test
The newborn blood spot test involves taking a small sample of your baby’s blood to check it for 9 rare but serious health conditions.
When your baby is about 5 days old, a healthcare professional will prick your baby’s heel and collect a few drops of blood on a special card. This is sent off for testing.
The heel prick may be uncomfortable and your baby may cry, but it’s all over very quickly.
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How The Test Is Done
All infants are screened before they are released from the hospital where they were born.
If your baby goes home from the hospital before he or she is 24 hours old, the test will have to be repeated. It is important that the blood sample be collected after the child is 24 hours old and before the 5th day of life.
- The test is done with 5 drops of blood collected from the heel of the baby, then dripped on a special paper . All the newborn screens are sent to the Ohio Department of Health Laboratory.
- When a premature or sick baby is transferred from another hospital, the doctors and nurses at Nationwide Childrens Hospital make sure the needed Newborn Screen Blood Test or follow-up tests are done.
- You will not be notified of the results unless more testing is needed.
- The babys primary care doctor is responsible for keeping the test results in your babys medical record.
Universal Newborn Hearing Screening
All infants born in the District of Columbia are required by law to be screened at birth for hearing loss. The DC Hears program works for early detection of hearing loss and provides services for all children from birth to five years of age who have been diagnosed with hearing loss or deafness, regardless of their level of income. DC Hears provides free hearing screening and loaner amplification to all DC children in need of services. If hearing loss is not discovered early, the child could experience delays in speech, language, emotional, and educational development.
There are two tests for screening newborn hearing: OAE and ABR . A baby may be given one or both of these tests. In the OAE test, a soft rubber earpiece is placed in the babys ear canal to deliver a soft sound. This test measures how well the babys inner ear responds to sound. In the ABR test, earphones are placed over the babys ear canal to deliver sound. This test measures how the brain responds to sounds. Typically, testing is done when the baby is asleep and not aware of the testing. Results are available immediately after testing.
Passing the hearing screening indicates that the babys hearing is within the normal range at the time of the test. However, some babies with a family history of hearing loss, repeated ear infections, or serious illness may develop hearing loss later. The childs hearing and speech should be monitored as he or she grows.
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What Are Newborn Screening Tests
Nearly all babies will have a simple blood test to check for disorders that are not apparent immediately after delivery. Some of these disorders are genetic, metabolic, blood, or hormone-related. Each state in the United States requires screening tests, but the specific tests performed vary among the states. Some disorders are more common in some states, making these individual tests more important in those states.
A heel-prick is used to sample the baby’s blood. The blood drops are collected in a small vial or on a special paper. The blood is then sent for testing. The baby’s heel may have some redness at the pricked site, and some babies may have bruising, but this usually disappears in a few days.
Newborn screening tests may include:
Other tests screen for disorders including congenital toxoplasmosis and cystic fibrosis. Some states are using a new testing technique called tandem mass spectrometry which can detect more than 30 disorders using a simple blood sample, including those involving protein and fatty acid metabolism.
Most screenings cannot be performed until a baby has received at least 24 hours of breast milk or formula. Your baby may need follow-up testing if you are discharged before this time or the baby is unable to be tested before discharge. Most states mandate a second blood test to be done at 2 weeks of age.
Next Steps
Newborn Screening And Adoption
For international adoptions, some adoption agencies may be able to arrange overseas newborn screening during the pre-adoption period with the consent of the infants legal guardian. For children adopted from the United States, most states recommend that contact information for the adoptive parents, adoption agency, or lawyer be included on the newborn screening card, rather than that of the birth mother. This will allow timely follow-up with the childs caregivers in the event of an abnormal test result.
Adopted children who are born at home, in independent clinics or in other countries may not have had newborn screening, or their results may be unavailable. If results cannot be confirmed during the initial medical assessment of an adopted infant, screening should be done promptly. Clinical testing may be more appropriate than newborn screening for adopted children older than one year of age and for children whose medical history suggests they have a health condition.
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Do Parents Have To Ask For Screening
No it is normal hospital procedure to screen every baby regardless of whether the parent asks for it and whether the parents have health insurance. The screening test is normally included in the forms for standard medical procedures that the newborn may need after birth. Parents sign this form upon arrival at the hospital for the birth of their baby. All states require screening to be performed on newborns, but most will allow parents to refuse for religious purposes. Any decision to decline or refuse testing should first be discussed with a health professional, since newborn screening is designed to protect the health of the baby.
How Newborn Bloodspot Screening Is Performed
Blood is taken by pricking the babys heel. Having the heel prick may cause brief discomfort to your newborn, but holding or feeding your newborn during the sample collection may help.Levels of biochemical markers for the above disorders are measured in the blood spots. The only genetic test performed is on a small number of samples that have an increased level of the marker for cystic fibrosis.
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What If I Decline To Have The Test
Parents may refuse to provide consent for their newborns hearing screening. This will be recorded in your childs Personal Health Record. You will also be asked to sign a form confirming that when the screen was offered you declined.
You should still get information about the screen and why its important even if you choose not to have your baby screened.
If you are concerned about your childs hearing or speech and language development in the future, please arrange to have your childs hearing tested. Ask your family doctor for a referral to an appropriate service for your childs hearing to be tested. Hearing can be tested at any age.
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How And When Is Newborn Testing Done
Blood is drawn from the heel of the baby, also known as the heel-stick test before the baby is discharged from the hospital or within a few days of birth. The March of Dimes has a timeline for the best time to take the test.
- The optimal time for taking blood specimen for testing: When the baby is 3-5 days old or between the first 48-96 hours of life.
- Satisfactory time for taking a blood specimen for testing: When the baby is 2 days old or at least 24 hours since birth.
- Limited results from blood specimen: When the baby is 1 day old or less than 24 hours since birth.
There are two different testing types: newborn screening and tandem mass spectrometry . The difference between these two tests is that MS/MS tests for many disorders at one time.
In most cases, you will not be notified if the results are negative. If the result is positive for any of the disorders, you will be notified immediately, and further testing will be performed to confirm any diagnosis. Keep in mind that results can be abnormal if the blood was drawn too early or if the baby is premature. Other factors may contribute to an abnormal result as well.
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Does My Baby Have To Have The Examination
The aim of the examination is to identify any of the problems early so treatment can be started as soon as possible.
It’s strongly recommended for your baby, but not compulsory.
You can decide to have your baby examined and screened for any or all of the conditions.
If you have any concerns, you should talk to your midwife or the healthcare professional offering the examination.
Administration Of Vitamin K
This is usually an injection given after birth. Vitamin K deficiency is common in newborns. If vitamin K is not replaced, babies are at risk of vitamin K deficiency bleeding , which can be serious or even fatal.
Oral vitamin K supplements aren’t appropriate for babies born prematurely, or babies who have certain medical conditions. They require multiple doses over several weeks or months, instead of a single injection, and are not as effective as injected vitamin K.
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What Happens When My Baby Is Tested
Usually, a midwife takes a blood sample between 48 and 72 hours after the baby is born. The midwife pricks the babys heel and places a few drops of blood onto a piece of card. This can happen in the hospital or at home. The test is safe and will not harm your baby. The heel prick may cause brief discomfort to your baby, but holding or feeding them while the sample is collected may help. There is a small risk of infection, but the midwife will wear gloves and clean your babys heel before collecting the blood to make this risk as small as possible. The blood sample is looked at in a laboratory. It is tested for different chemicals that show that a condition is present. These are called markers. If the marker for cystic fibrosis is found, the sample will be tested for the gene for cystic fibrosis.Most babies will have a normal test result. You will not be contacted if the result is normal. Sometimes another test is needed. Dont worry if this happens, as most repeat screening results are normal.If the test shows that your baby has a rare but serious medical condition, you will be contacted immediately to arrange treatment for your baby.
Repeat Tests And Positive Results
Sometimes a repeat test is needed if the first sample:
- was collected too early
- produced an unclear result.
Dont worry if this happens, as most repeat screening results are normal.If your baby is found to have a condition , you will be contacted and referred to a specialist for further testing. Positive screening results are usually confirmed by testing a sample of urine or blood.
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When Does The Screen Happen
The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. Some states require babies to undergo a second newborn screen when they are two weeks old. This precaution ensures that parents and health professionals have the most accurate results.
Ideally, the newborn hearing screen should be performed before the baby leaves the hospital.
Why Are All Babies Screened At Birth
Most babies are born healthy. However, some infants have a serious medical condition even though they look and act like all newborns. These babies generally come from families with no previous history of a condition. Newborn screening allows health professionals to identify and treat certain conditions before they make a baby sick. Most babies with these conditions who are identified at birth and treated early are able to grow up healthy with normal development.
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When Newborn Screening Needs To Be Repeated
Some babies need to have their newborn screening tests repeated.
Newborn screening often needs to be repeated if:
- there isnt enough blood to perform the screening test
- your newborns first screening test did not give a clear result or the result was just outside the normal range
- your newborn was born prematurely and received donor blood transfusions
- your newborn was born prematurely and was fed before starting regular breastmilk or formula-feeding.
Your hospital or midwife will contact you if your baby needs to be tested again. If youre asked to take your baby for a repeat test, its important to do so as soon as possible.