Newborn screening tests are a state public health service program available to all 4 million American babies each year. It helps ensure that all babies are tested for severe conditions at birth. Then, doctors can start treatment for those with severe illnesses before any of the adverse effects occur.
The newborn screening takes place soon after your baby is born and, in most cases, while you are still at the hospital. It takes only a few drops of blood and a simple hearing test.
What Is Done During A Newborn Screening?
Robert Guthrie, MD, Ph.D., developed a blood test to detect phenylketonuria in newborns. This was done back in the 1960s. Scientists have since developed many more screening tests for newborns to check for severe conditions. More than 60 disorders are currently covered by screening tests. However, there is some variability in the types and number of conditions in each state’s newborn testing panel. This is determined by each state’s public health department.
Screening is generally a public health service that identifies individuals at higher risk for a particular disease. The screening test is done before any symptoms are present. This allows for a condition to be diagnosed and treated before it becomes a problem. A screening test can’t confirm or exclude a condition. A newborn screening test is not intended to be a diagnostic test. This screening identifies people who might have the condition and allows for definitive follow-up testing to confirm if it is.
Each state provides newborn screening as a public service. Each newborn is tested for specific health conditions that are not otherwise found at birth.
Doctors can quickly check for rare, hormonal-related, and metabolic conditions. This can lead to serious health problems. Doctors can quickly diagnose newborns and begin treatment as soon as they are available.
What Screening Tests Are Available?
The state that screens you will be tested for is different. As technology improves and new treatments are available, the types of tests offered may change. While there are national guidelines for newborn screening, each state can decide what tests to include.
An Apgar score is a quick and easy way to assess your baby’s health right after birth. This routine test measures the baby’s vital signs and responsiveness. Five factors are tested: breathing, heart rate, color, activity, muscle tone, grimace reflex, and color.
The Apgar score is a combination of five scores. Babies are given a score between 0-2 in each category. This evaluation takes 1 minute and 5 minutes, respectively. This is a quick test that primarily checks if the baby requires help breathing. A score between 7-10 is considered normal. This score is deemed to be normal and does not require any special treatment. If your baby scores lower, you may need to give the baby oxygen.
The following are some other quick procedures that your newborn may need to go through:
- Clear the nasal passages using a suction bulb
- Measurements of weight, head circumference, and length
- Eye drops or ointment to prevent infection
The medical staff will then dry your baby and wrap a blanket around them. This all takes place quickly. Your baby is with you in no time at all. Then, it’s time to continue breastfeeding, usually within 10-30 minutes.
The mother can rest in the recovery or birthing room while the baby is taken to the nursery for a full bath. The father may usually accompany the baby. To prevent severe bleeding disorders and blood clot problems, your baby will receive a vitamin K injection. With your consent, your baby may also receive a dose of the hepatitis B vaccination.
The results of other tests may vary from one hospital or another. For example, a blood test may be performed on your newborn to determine any abnormalities in blood sugar or bilirubin levels. The baby might need medical attention immediately if there are any problems.
A newborn screening blood test is performed before the baby leaves the hospital. This allows for the detection of congenital hypothyroidism and PKU (phenylketonuria). In addition, to ensure that any problems are caught early, all babies should be screened for hearing loss.
The average stay for a newborn with vaginal delivery is 48 hours. It takes approximately 96 hours for a cesarean birth.
Screening for newborns includes:
Problems with metabolism. Metabolism refers to the conversion of food into energy that the body can use for movement, thought, and growth. Enzymes, which are special proteins, help speed up chemical reactions within cells and aid in metabolism. When certain enzymes stop working or are not functioning properly, most metabolic disorders occur. The following metabolic disorders are detected in newborn screening:
- Medium-chain acyl CoA dehydrogenase (MCAD) deficiency
- Maple syrup urine disease (MSUD)
- Methylmalonic acidemia
- Phenylketonuria (PKU)
Hormone problems. Chemical messengers produced by glands are hormones. Hormone problems are caused by excessive or inadequate hormone production in the glands. The following hormone problems can occur during newborn screening:
- Congenital adrenal hyperplasia
- Congenital hypothyroidism
Hemoglobin issues. Hemoglobin, a protein found in red blood cells, is responsible for carrying oxygen throughout the body. The following are some hemoglobin issues that newborn screening may uncover:
- Beta thalassemia
- Hemoglobin SC Disease
- Sickle cell disease
Other problems here are also other severe, rare medical conditions that newborn screening may uncover.
- Adrenoleukodystrophy X-linked
- Biotinidase deficiency
- Cystic Fibrosis
- Mucopolysaccharidosis type 1
- Pompe disease (glycogen-storage disease type II)
- Spinal muscle atrophy (SMA)
- Severe combined immunodeficiency with (SCID)
Many states screen for hearing loss or critical congenital heart disease.
The Key Facts
- Each state has its own screening procedures for newborns.
- The Advisory Committee on Heritable Disorders of Newborns and Children recommends that 29 out of 35 conditions be screened in all states. These conditions are uncommon, but over 5,000 newborns are diagnosed each year with them.
- Newborn screening consists of three components. Newborn screening includes a heel stick for collecting a small amount of blood, pulse oximetry to determine the level of oxygen in the baby’s blood, and hearing screening.
- A blood test is usually done when the baby is between 24 and 48 hours of age. It is crucial to do this timing because some conditions can go undiagnosed if the blood sample was taken before 24 hours.
Newborn screening does not prove that a baby is suffering from a medical condition. However, parents will be notified immediately if a positive screening is done. Follow-up testing will also be performed.
Every child born in the United States of America will be screened unless a parent chooses to opt out for religious reasons.
What Time Are the Results Ready for You?
The newborn screening results for heart disease and hearing loss are available immediately after the test is completed.
The results of blood tests are usually available when a baby turns 5-7 days. Parents won’t often hear about results even if screening tests were normal. If a screening test is positive for a condition, parents will be contacted. A positive newborn screening test doesn’t necessarily mean that a child has the disease. Doctors may order additional tests to confirm or rule the diagnosis.
Doctors might refer the child for further testing and treatment if they know that the diagnosis has been confirmed. However, it is essential to begin treatment as soon as possible if it is necessary. The treatment may include a special diet, restrictions, medications, and close monitoring.
Most Frequently Asked Questions
Q: A nurse advised that my baby needs a PKU test. A PKU test is the same thing as a newborn screening.
A: Yes. PKU test is sometimes used by health professionals as a synonym for newborn screening. However, it is possible to misunderstand the term PKU test. Each state screens for PKU (phenylketonuria), which is a rare metabolic disorder. However, they also screen for other conditions. This page will help you find out which conditions are covered in your state’s newborn screening programs.
Q: Is the newborn screening blood test harmful to my baby?
A: While most babies feel discomfort from the heel stick for a short time, it is quickly absorbed and does not leave a scar. These suggestions can make screening more enjoyable for both you and your baby.
- Before and/or during the procedure, nurse/feed your baby.
- During the procedure, hold the baby.
- Ensure that the baby is comfortable and warm during the procedure.
Research shows that babies comforted by their mothers or other health professionals during heel sticks are less likely to cry.
Q: Why are all babies screened at birth?
A: Most babies are healthy from birth. Some infants may have a severe medical condition, even though they appear and act the same as all other newborns. These babies are usually from families that have never had a history of the condition. Health professionals can identify and treat certain conditions in newborn screening. These conditions are most common in babies born to healthy parents who receive early treatment.
Q: Should parents ask for screenings?
A: No. It is a standard hospital procedure to screen all babies regardless of parents asking for it or having insurance. The forms for common medical procedures the newborn may require after birth usually include the screening test. This form is signed by parents upon their arrival at the hospital to give birth to their baby. While all states require newborn screening, most allow parents to refuse to have it done. Because newborn screening is intended to protect the baby’s health, it should be discussed before you decline or refuse to test with a healthcare professional.
Q: What are the screening costs?
A: The cost of newborn screening tests varies by state as each state finances its programs differently. While most states charge a fee for screening, health insurance, and other programs may cover some or all of the cost. No matter what your health insurance status, the newborn screening will be provided to all babies. Contact your state’s newborn screening coordinator for more information about the cost of newborn screening.
Every baby can now be screened.
Over 5,000 babies are born each year with one of these conditions. These infants are usually healthy from birth and have no family history of the condition.
Unfortunately, symptoms can become irreversible once they have developed. This can lead to severe health and developmental problems or even death. Therefore, each baby born in America must undergo newborn screening before leaving the hospital. This is the only way to determine if an otherwise healthy infant is suffering from one of these rare but severe conditions. Babies with severe conditions identified early through newborn screening receive normal development, and most of them grow up healthy.