Newborn Screening {Ultimate Guide}

The newborn screening program is a public health program that screens newborn babies for several serious, but treatable genetic disorders. The program began in the early 1960s when Dr. Robert Guthrie developed a test to screen babies for phenylketonuria ¹.

However, federal guidelines weren’t developed for newborn screening until 2002. 

Since then, the program and guidelines have grown and all 50 states, the District of Columbia, and Puerto Rico are required to screen newborns for 35 core conditions. At YourDNA.com, we understand the importance of newborn screening, so we’ve compiled this guide to give you the most accurate information possible.

What Is Newborn Screening? 

Newborn screening is a series of tests given to newborns soon after birth to determine if they have any serious, but treatable genetic disorders. The number of conditions screened for vary by state. 

Some states only screen newborns for the 35 core conditions listed in the Recommended Uniform Screening Panel (RUSP) created by the American College of Medical Genetics (ACMG), while others also screen newborns for the additional 26 secondary conditions included in the RUSP. Some states, such as California, screen newborns for more than 80 different conditions shortly after birth ².

The conditions and disorders included in the core panel are all conditions that can hinder normal development and/or cause serious health problems in infancy and early childhood. The goal of the newborn screening program is to identify babies with certain conditions because early detection and treatment can help prevent physical and intellectual disabilities and life-threatening illnesses. 

For example, newborn metabolic screening tests newborns for metabolic disorders such as propionic acidemia, trifunctional protein deficiency, and glutaric acidemia type I. These conditions can hinder normal development, but they are all treated by simple adjustments to one’s diet.

By starting necessary treatment at birth, the child is a lot less likely to experience developmental delays.

The Importance of Newborn Screening 

Many new parents wonder about the newborn genetic screening pros and cons, whether it causes unnecessary pain to the baby, and if they can refuse the screening process completely.

Like with anything else in life, there are pros and cons to newborn screening.

Because of this, it’s important for new parents to learn as much as possible about the process so they can make an informed decision, if applicable. 

Newborn screening is extremely important. It helps parents and doctors identify specific conditions that could if not properly treated, hinder the growth and development of the baby. Some of the pros of newborn screening include:

• It may give you the information needed to help your child live a happy, healthy life.
• It uncovers metabolic disorders that you wouldn’t know about otherwise.
• It can detect family risk factors, which allow families to plan for health risks well in advance.

Some newborn screening cons include:

• The results can be inconclusive, and in that case, second newborn screening tests would need to be completed to confirm the results.
• It’s possible to receive positive test results when your child is a carrier but doesn’t actually have the disorder.
• If completed too early, the results may not be accurate because for some babies it takes a few days for a metabolic disorder to develop.

Also, many parents worry that the heel stick test procedure will hurt the baby. The discomfort the baby feels during the procedure is comparable to stepping on a needle or push pin.

While uncomfortable, the pain only lasts for a second and it isn’t something the baby remembers. To minimize the baby’s discomfort, it’s recommended that the mother breast or bottle feed the baby during the procedure.

Also, the baby’s foot should be soft and warm to the touch. This minimizes the amount of discomfort the baby feels during the heel stick procedure so it can be completed as quickly as possible.

Can You Refuse Newborn Screening? 

In all 50 states, the District of Columbia, and Puerto Rico newborn screening is mandatory. Declining newborn screening isn’t possible unless the state has a provision that allows parents to decline the testing for religious purposes. 

However, even if the state allows parents to decline newborn screening for religious purposes, it’s important for the parents to discuss the decision with a doctor first. Keep in mind, newborn screening is designed to protect the health of the baby, so it may not be a procedure you want to decline.

Tests Offered in Newborn Screening 

When it comes to newborn screenings, the conditions screened by state vary. All states are required to test for the 35 conditions listed on the RUSP.

However, some states screen for conditions on the secondary conditions lists as well. 

The core newborn screening diseases list includes:

• Propionic acidemia
• Methylmalonic acidemia (methylmalonyl-CoA mutase)
• Methylmalonic acidemia (cobalamin disorders)
• Isovaleric acidemia
• 3-Methylcrotonyl-CoA carboxylase deficiency
• 3-Hydroxy-3-methylglutaric aciduria
• Holocarboxylase synthetase deficiency
• B-ketothiolase deficiency
• Glutaric acidemia type I
• Medium-chain acyl-CoA dehydrogenase deficiency
• Very long-chain acyl-CoA dehydrogenase deficiency
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
• Trifunctional protein deficiency
• Argininosuccinic aciduria
• Citrullinemia, type I
• Maple syrup urine disease
• Homocystinuria
• Classic phenylketonuria
• Tyrosinemia, type I
• Primary congenital hypothyroidism
• Congenital adrenal hyperplasia
• S, S disease (Sickle cell anemia)
• S, βeta-thalassemia
• S, C disease
• Biotinidase deficiency
• Critical congenital heart disease
• Cystic fibrosis
• Classic galactosemia
• Glycogen storage disease type II (Pompe)
• Hearing loss
• Severe combined Immunodeficiencies
• Mucopolysaccharidosis type 1
• X-linked adrenoleukodystrophy
• Spinal muscular atrophy due to homozygous deletion of exon 7 in SMN1

When states do expanded newborn screening, additional diseases detected might include:

• Methylmalonic acidemia with homocystinuria
• Malonic acidemia
• Isobutyrylglycinuria
• 2-Methylbutyrylglycinuria
• 3-Methylglutaconic aciduria
• 2-Methyl-3-hydroxybutyric aciduria
• Short-chain acyl-CoA dehydrogenase deficiency
• Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
• Glutaric acidemia type II
• Medium-chain ketoacyl-CoA thiolase deficiency
• 2,4 Dienoyl-CoA reductase deficiency
• Carnitine palmitoyltransferase type I deficiency
• Carnitine palmitoyltransferase type II deficiency
• Carnitine-acylcarnitine translocase deficiency
• Argininemia
• Citrullinemia, type II
• Hypermethioninemia
• Benign hyperphenylalaninemia
• Biopterin defect in cofactor biosynthesis
• Biopterin defect in cofactor regeneration
• Tyrosinemia, type II
• Tyrosinemia, type III
• Various other hemoglobinopathies
• Galactose epimerase deficiency
• Galactokinase deficiency
• T-cell related lymphocyte deficiencies

Should I Request Other Tests? 

If you live in a state that doesn’t automatically complete the expanded newborn screening test, you can request that it be performed. Typically, the additional tests are run separately from the state-mandated tests.

However, they use the same blood sample to complete the additional tests, so your baby only has to have the heel stick test completed once. If there is a specific condition that runs in your family, you should consider asking your doctor to test for it as well.

When Is Newborn Screening Done? 

Newborn screening is typically completed 24 to 48 hours after the baby is born, while the baby is still in the hospital ³. In some states, an additional newborn screening test is performed at the baby’s one or two-week checkup with the pediatrician. 

If your baby is born outside the hospital, your doula or midwife may collect the blood sample needed for your baby’s newborn screening. If it’s not collected by the doula or midwife, the testing will be completed at your baby’s first well-baby appointment when he or she is between one and two weeks old.

Newborn Screening Test Procedure 

All states follow specific newborn screening guidelines to conduct initial newborn screening tests. All of the testing that’s completed, with the exception of the hearing test and the CCHD test, requires a blood sample, which is collected through the heel stick test. 

The heel stick test is completed 24 to 48 hours after a baby is born. To complete the test, the heel of the baby’s foot is pricked with a needle to collect two to three drops of blood. There are very few risks involved with the test and discomfort to the baby is minimal. 

Earphones and sensors are used to test a baby’s hearing. The test determines how well the baby’s inner ear and brain respond to sounds.

In some states, babies are also tested for critical congenital heart disease. This test involved placing a sensor, similar to an adhesive bandage, on the baby’s foot to test the level of oxygen in the blood.

Is Newborn Screening Painful to my Baby?

The hearing test and the test for critical congenital heart disease won’t affect your baby at all. However, the heel stick test can cause minimal discomfort.

The pain felt during the test is similar to what you would feel if you stepped on a needle or push pin. 

The thought of their baby experiencing any level of pain is scary for a lot of parents, but it’s important to remember that the test is performed quickly. Any discomfort the baby feels comes and goes quickly and the baby won’t remember it at all.

Accuracy of Newborn Screening 

In many cases, newborn screening tests yield a false positive. This happens when the test results indicate it’s possible for the newborn to have a specific genetic condition, but further testing indicates the child is healthy.

The thing is, newborn screening tests aren’t diagnostic tests. A diagnostic test can tell you whether or not a child has a specific condition with certainty.

However, newborn screening tests are simply screening for the possibility of specific genetic conditions. Because of this, many children with out-of-range screening results are perfectly healthy. 

Instead of confirming a diagnosis through a newborn screening test, doctors use the test results to determine whether it’s possible for a child to have a specific condition. If it’s a possibility, the doctor performs further testing to either confirm or rule out the condition. 

So if your child has positive test results, it’s important to allow the doctor to complete additional tests before you worry too much. False positives are common with newborn screenings, and until further tests are conducted, there’s still a really good chance your baby is perfectly healthy.

How Long Does It Take To Get Newborn Screening Results?

It typically takes about three weeks for your newborn screening test results to come back. However, this does depend on how busy the lab is, so the time could vary. If you haven’t seen the results within three weeks, ask your doctor about them at your baby’s one-month checkup.

Understanding the Results 

When you review your baby’s newborn screening test results, keep in mind the results only indicate whether your baby has the potential of having any of the conditions that were tested. It doesn’t confirm a diagnosis. 

If you receive positive test results for any of the conditions tested for, your baby’s doctor will order additional tests to rule out or confirm an official diagnosis.

Negative Test Results

Negative newborn screening test results indicate your baby doesn’t have the markers needed to have the conditions included in the tests. In most cases, these results are accurate and no further testing is needed. 

It is possible to receive abnormal results, though. Typically, these results will come back as inconclusive.

If this happens, your doctor may order an additional newborn screening. Typically, abnormal test results simply mean the test was completed too early to tell if your baby could potentially have the conditions they look for with the newborn screening tests.

Positive Test Results 

Positive test results mean your baby could have the condition for which he or she tested positive. It’s possible to have a false positive, however, This happens because the newborn screening only screens for the possibility of certain conditions. 

Because of this, positive test results could indicate your baby is the carrier of the condition but doesn’t actually have it. So you should expect your doctor to order follow-up tests if the newborn screening results are positive.

These tests will either confirm or rule out the results from the newborn screening test. 

Inconclusive Test Results 

Newborn screening results can come back inconclusive. In this case, the results are neither negative or positive and a repeat newborn screening test is typically ordered.

The test results could be inconclusive if the test was performed too early or if the test yielded a borderline test result. Either way, if the results are inconclusive, another newborn screening test is usually completed to rule out any of the conditions for which they test.

Costs of Newborn Screening

Newborn screenings are mandatory in all states, regardless of the parent’s ability to pay for them. 

The newborn screening test price varies from state to state but is usually between $15 and $150.

Does Insurance Cover Newborn Screening? 

In most cases, the costs of newborn screening tests are covered by the parent’s insurance ⁴. The cost of these tests are also covered under the Children’s Health Insurance Program (CHIP) and Medicaid for those who are eligible.

About Newborn Genomic Sequencing 

Newborn genomic sequencing is an approach to newborn screening that’s being studied, as of June 2019. It tests large amounts of a newborn’s DNA for genetic conditions in both children and adults. 

Like the current newborn screening tests, genomic sequencing helps doctors identify conditions quickly so they can be treated as early as possible. While the goal is similar, newborn genomic sequencing wouldn’t replace standard newborn screening tests. Instead, it would only be used to identify conditions in babies who are considered high risk because of a family history of specific conditions.

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