Newborn screening tests are a vital part of postnatal care that all babies should receive. These tests check for rare but serious and potentially life-threatening conditions that often show no outward symptoms at birth. Catching and treating these conditions early can prevent long-term health issues and even save lives.
What Are Newborn Screening Tests?
Newborn screening tests check for rare but serious genetic, metabolic, hormonal and functional disorders in newborns. The conditions screened for can cause severe disabilities and even death if left untreated.
All states require screening for at least 29 core disorders, with most testing for over 30. Some states screen for more than 50 disorders. Testing is mandatory in most states, even for babies that appear completely healthy.
Screening is typically performed between 24-48 hours after birth. A few drops of blood are taken from baby’s heel and tested, along with hearing and heart screening. The heel prick doesn’t hurt and only takes a minute.
These screening tests are the first essential step in detecting disorders and getting babies treatment as soon as possible. However, they only indicate the possibility of a problem. If the screening is positive, further diagnostic testing will be done to confirm a diagnosis.
Why Are Newborn Screenings So Important?
- Most disorders show no signs or symptoms at birth. Without screening, parents and doctors would not know a baby has a potentially deadly disorder until complications arise.
- Early detection and treatment can prevent severe disabilities, illness and death. Diagnosing and beginning treatment quickly leads to the best outcomes.
- Rapid results enable rapid treatment. Babies can start treatment right away, before irreversible damage is done.
- Testing is painless and easy. A few drops of blood, hearing test and oxygen level check cause little to no discomfort.
- Later screening misses the critical window. Disabilities or death can occur if treatment is delayed until symptoms appear.
- It provides valuable information to parents. Knowing about a disorder early empowers parents to get their child the best care.
- Testing is required by law. States recognize the value to public health. Parents cannot opt out.
While serious disorders are rare, about 1 in 800 babies is born with a condition detected through newborn screening. Over 5000 affected babies are identified through screening in the U.S. yearly.
What Disorders Are Tested For?
The federal government has identified 35 core disorders that are recommended for states to test for. Most states screen for at least 29 of these. Some screen for many more.
Metabolic disorders – Problems metabolizing proteins, sugars and fats. Ex: PKU, galactosemia
Hormonal disorders – Issues with glands producing hormones. Ex: congenital hypothyroidism
Hemoglobin disorders – Abnormal hemoglobin. Ex: sickle cell disease
Immune disorders – Trouble producing immune system proteins. Ex: SCID
Heart disorders – Structural heart defects. Caught with pulse oximetry screening.
Other disorders – Various genetic and functional issues. Ex: biotinidase deficiency, cystic fibrosis.
When and Where Does Screening Occur?
If you give birth in a hospital, the newborn screening tests will be handled by the medical staff there. Hearing and pulse oximetry screening is done before you leave the hospital. Blood is also drawn and sent to the lab for testing.
For home births or early hospital discharges, have your midwife screen baby or take them to a pediatric provider within the first few days to get the mandated testing done.
Preemies and sick babies are still screened, but the process may differ. More than one blood sample may be needed. The hospital will advise you on proper timing for your baby.
What If My Baby Tests Positive?
Don’t panic if your baby’s screening results come back as “positive” or “abnormal”. This means additional diagnostic testing is needed, not that your baby definitely has a disorder. There are a few reasons for false positives:
- Baby was tested too early after birth
- Not enough blood sample was collected
- Baby is a carrier for a disorder but does not have symptoms
- Temporary issues like jaundice
Talk to your pediatrician right away if your baby needs follow-up testing. They will explain the next steps based on which disorder is suspected. A repeat blood screening, urine or DNA tests, clinical exams, enzyme assays and other diagnostics will be used to confirm if your baby is truly affected or not.
If your baby is diagnosed with a condition, early treatment and careful management will lead to the best outcome. Try not to worry – your baby will get the care he or she needs.
What Are the Screening Tests Done?
Blood spot screening
This is the most extensive testing. A blood sample drawn from baby’s heel is collected on a special filter paper and sent to a lab. Advanced technologies test for a range of disorders from one blood spot.
Hearing screening
Two types of non-invasive hearing tests are done – otoacoustic emissions testing (OAE) and auditory brainstem response testing (ABR). Both use a small earphone and microphone placed in baby’s ear. Response to sound is measured.
Pulse oximetry
Oxygen saturation in the blood is measured with a sensor placed on hand and foot. This screens the function of baby’s heart and lungs.
Other optional screening
Some hospitals offer additional screening such as echocardiograms (heart ultrasound), hip ultrasounds, eye exams and more. Ask your provider what is offered.
Who Pays for Newborn Screening?
Charges for newborn screening vary by state. Costs range from $15 to $150. In some states, screening is free. Contact your state health department for fee details.
Health insurance, Medicaid and CHIP usually cover screening. If parents do not have insurance, the hospital may absorb costs or charge a fee. Fortunately, no baby goes untested due to inability to pay.
Getting the Results
The hospital pediatrician will receive the results a few hours after on-site testing up to several weeks for off-site lab work. They contact parents if any results are abnormal. Normal results may not be reported.
To be sure, ask your pediatrician at your baby’s first visit. Results are provided to parents upon request. You can also call the newborn screening program in your state.
Can Parents Decline Screening?
Some states allow parents to opt-out for religious, philosophical or personal reasons. Other states mandate testing – refusal is not a legal option. Talk to your provider about regulations in your state.
Supplemental screening can be declined, while core mandated tests cannot. Discuss any concerns about testing with your pediatrician to make an informed decision. but the benefits far outweigh any risks.
The Takeaway on Newborn Screening
Newborn screening is a vital, time-sensitive procedure that leads to improved outcomes for affected babies through early detection and treatment. The risks are infinitesimally small. The benefits are immeasurable.
All expecting parents should understand the importance of newborn screening and ensure their baby receives the mandated tests in their first few days of life. Being aware of the purpose and process will lead to quick action if any concerns are found.
Overall, parents can relax knowing these tests provide valuable insights into their newborn’s health, allowing quick intervention for the best results. While serious disorders are rare, screening identifies thousands of babies annually who benefit from prompt treatment.
Frequently Asked Questions About Newborn Screening
- Why does my baby need screening if he seems healthy?
Many devastating disorders have no visible symptoms at birth. Screening can pick up issues before complications develop. Catching problems early prevents disability and death.
- What is the heel prick test?
A lancet is used to obtain a few drops of blood from baby’s heel onto a paper card. This screens for dozens of inherited metabolic disorders from one test.
- Does the heel prick hurt my baby?
The heel prick only takes a moment and just stings briefly. Comforting baby during the procedure can minimize discomfort. The benefits far outweigh this transitory pain.
- When will I get the screening results?
Blood spot screening takes 1-3 weeks. Hearing and heart screening results will be ready before hospital discharge. Ask your pediatrician if you don’t receive abnormal results.
- What if my baby’s test is positive?
This means additional testing is needed to confirm a diagnosis. False positives are common. Talk to your pediatrician right away about next steps if your baby needs follow-up testing.
- What does it cost?
Most states charge a fee ranging from $15-150. Some states provide free screening. Health insurance and Medicaid typically cover costs. No baby goes untested due to inability to pay.
- Why is newborn screening mandatory?
States recognize how critical these tests are to preventing disability and death in affected children. Parents cannot decline, but supplemental screening may be optional.
- How can I soothe my baby during the heel prick?
Skin-to-skin, breastfeeding, swaddling, pacifiers, singing and gentle rocking can provide comfort. Keeping procedures brief minimizes distress.
- When should premature or sick babies be screened?
Every baby gets screened, but timing may vary. The hospital will advise you on when testing should be done for an ill or preterm baby. More than one sample may be needed.
- Where can I learn more about newborn screening?
Your pediatrician can answer any questions. Valuable resources include Baby’s First Test and Save Babies Through Screening websites.