How Long Do Newborn Screening Results Take?

What can be detected in newborn screening?

Newborn screening tests may include:Phenylketonuria (PKU).

PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.

Congenital hypothyroidism.


Sickle cell disease.

Maple syrup urine disease.


Biotinidase deficiency.

Congenital adrenal hyperplasia.More items….

Can autism be detected in newborn screening?

Diagnosing autism spectrum disorder (ASD) can be difficult because there is no medical test, like a blood test, to diagnose the disorder. Doctors look at the child’s developmental history and behavior to make a diagnosis. ASD can sometimes be detected at 18 months or younger.

When should the 2nd newborn screening be done?

The second newborn screening sample should be collected when the child is between 8 and 14 days old, even if the results from the first NBS sample were normal. The second newborn screening test is for your baby’s safety.

Why is newborn screening done after 24 hours?

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.

Are newborns tested for ALD?

NBS can include a heel stick, hearing screen, and pulse oximetry. The conditions that newborn babies are screened for varies by state. result for ALD was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your baby to have additional testing.

Can the newborn screening for cystic fibrosis be wrong?

The newborn screen is just a screen for cystic fibrosis. Those with an abnormal (screen positive) newborn screen do not necessarily have cystic fibrosis. Most times (approximately 90%), it is a false positive, meaning the screen was abnormal and the child does not have cystic fibrosis.

How accurate is newborn screening?

The PPVs, however, range from 0.5% to 6.0%. Consequently, on average, there are more than 50 false-positive results for every true-positive result identified through newborn screening in the United States.

What does an abnormal newborn screening mean?

Abnormal. An “abnormal” result means that the test results were not normal. “Abnormal” results may appear on the newborn screening report for some of the disorders on the newborn screening panel.

Can Down syndrome be detected in newborn screening?

Down syndrome can also be diagnosed after a baby is born. Clinicians can usually tell if a baby should be tested for Down syndrome based on a physical examination. The first test, a rapid blood test (FISH), confirms the presence of extra material from chromosome 21. Results are available within a few days.

Why is newborn screening important today?

This test can identify rare disorders that cause brain damage or death if not treated early. Each state varies slightly on what they test for. Oregon currently tests for 52 conditions that include blood disorders, endocrine disorders as well as amino acid disorders.

Why is newborn screening so important?

WHY IS NEWBORN SCREENING IMPORTANT? Newborn screening helps us find babies who have certain serious medical conditions so that they can begin treatment right away. In most cases, these babies look normal and healthy at birth. They usually do not begin showing symptoms until a few weeks or months later.