Newborn screening tests: Which ones your baby will have and why

Newborn screening tests: Which ones your baby will have and why

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All states require newborn screening tests for rare but serious conditions, including hearing loss, congenital heart defects, and metabolic disorders. These tests detect disorders that can cause long-term health problems, or even be fatal, if not diagnosed and treated promptly. Find out which screening tests your baby will have and what's involved.

What is a newborn screening test?

Newborn screening tests check for rare but serious conditions in babies just after birth. All states require certain screening tests to be performed on newborns, even if they appear healthy. These generally include a hearing test, screening for congenital heart defects, and a blood test to screen for disorders that include metabolic, genetic, and endocrine problems.

Most of these disorders cause no visible signs at birth. Catching these conditions early gives doctors a critical edge in treating them before they can cause your baby lasting harm.

Screening tests give only preliminary information that tells doctors whether to do more precise diagnostic testing, which is needed to determine whether there's truly a problem.

The vast majority of babies don't have the conditions they're tested for. About one out of every 300 newborns is eventually diagnosed with one of these conditions.

When and where will my baby be tested?

Ideally, the tests will be performed between 24 and 48 hours after your baby is born. If they're done earlier, the blood sample might not pick up certain conditions. If they're done later, valuable time is lost if you're addressing a serious condition.

If you give birth in a hospital, the medical staff will handle the hearing and heart screenings, and draw blood for the other tests before you leave. Typically, they'll send the blood sample to a state public health lab for analysis, and the results will be sent to the hospital or your baby's doctor. The doctor will contact you about the next step if the results show any cause for concern.

If you and your baby leave the hospital within 24 hours of birth, you might be asked to return in a week or two to finish the necessary testing. This is because some signs of the conditions being tested for don't show up until the second day of life or later.

In some states, no matter when you leave the hospital, you'll be asked to come back and have the tests repeated in a week or two, just to make sure nothing was missed.

If you deliver your baby at home, you're still required to have her screened. Some licensed midwives and doulas are qualified to do the hearing screen and the blood test. If yours is not, take your newborn to a local hospital, clinic, or healthcare provider in the first few days of her life to have blood drawn for screening tests. It's best to do this on day two or three – and no later than day seven.

Which disorders will my newborn be tested for?

Each state decides what health conditions it will screen all newborns for, but all states test for at least 29 of 35 core disorders. You can ask your baby's doctor or check with your state's newborn screening program for details.

How much does newborn screening cost?

Screening in some states is free. Others charge from about $15 to $150. The National Newborn Screening and Global Resource Center detailed information about state newborn screening programs, including fees.

Medicaid, the Children's Health Insurance Program (CHIP), and health insurance plans usually cover all or part of newborn screening. Your baby will be tested whether or not you have insurance. A hospital or birthing center may bill you for the fee separately or include it in the charge for delivery.

Will the screening tests hurt my baby? How are they done?

The screening tests involve little to no discomfort for your baby.

Blood test: A quick needle prick on one heel provides the few drops of blood needed to screen for certain disorders, including metabolic, genetic, and endocrine problems. You can hold and comfort your child during this process. The blood is put on a paper card and sent to a state laboratory for analysis.

Hearing test: One or both of these techniques may be used to painlessly check hearing. Each takes 5 to 10 minutes and can be performed while your baby is asleep:

  • A soft earphone and microphone are placed in the ear. The earphone plays sounds, and the microphone measures the ear's response.
  • Soft earphones are placed in the ears. They play sounds, and three electrodes on your baby's head measure how her auditory nerve and brain stem respond.

If your baby doesn't pass the hearing test, you'll be referred to a pediatric audiologist to find out whether she has hearing loss.

Screen for congenital heart defects (pulse oximetry): To screen for heart problems, the amount of oxygen in your baby's blood is measured. Also known as pulse oximetry (or "pulse ox"), the test involves putting painless sensors on a hand and a foot for a few minutes.

If the initial test shows low blood oxygen, your baby will be tested again one and two hours later. If the pulse oximetry test still shows a low blood oxygen level, he may be given an echocardiogram. He'll also be referred to a pediatric cardiologist for more testing, such as an EKG or a chest X-ray.

When do I get the screening results?

The time it takes to get results varies from program to program. Your baby's doctor will receive the results and talk to you about them.

Hearing and heart defects screening results: These results will be available before you leave the hospital.

Metabolic screen result: It typically takes one to three weeks to get results. Your child's healthcare provider will contact you. In some states, a program coordinator from the newborn screening program will also follow up.

You typically won't hear if the results are normal, but if you want to confirm this, contact your baby's doctor. The results should also be in your child’s medical records by her next well-baby visit, so you can review them then.

My baby's metabolic screening test came back positive. Is something wrong with my baby?

A positive result means at least one of the test results fell outside of normal range and further testing is needed. It doesn't necessarily mean your baby has the condition.

She may have a positive result, for example, if the test was taken too soon or if not enough blood was collected. Or it could mean that she's a carrier of a condition (like sickle cell anemia or cystic fibrosis) without having the condition himself.

If something is wrong, though, it's far better to know as soon as possible. Most conditions can be improved or even completely controlled with fairly simple measures, such as giving medication or monitoring your child's diet. If left untreated, however, many of the conditions can have severe consequences, ranging from intellectual disability to organ damage, and can even be fatal.

What if my baby is born prematurely or has a health problem? Are the same tests given after birth?

If your baby is born prematurely, has low birth weight, or is ill, she will still be screened, but she might need a special screening process, which her doctor can outline for you. A blood sample may need to be taken more than once, for example.

What if I don't want my baby to undergo any newborn screening tests?

Some states allow parents to opt out for religious or other reasons. In other states, testing is mandatory. The government believes testing is so important to your child's health that you don't have a legal right to refuse. Ask your healthcare provider what the rules are where your live if you're concerned.

Why don't all states screen for as many disorders as possible?

Each state's health department decides which tests it requires, based on factors such as:

  • Reliability. Can the test catch most cases of a disorder without mistakenly raising too many red flags for healthy babies?
  • Effectiveness. Will catching the disorder right after birth help? Is there an effective treatment, and does it work best when started as early as possible?
  • Cost and funding. Can a responsible party – usually the parent's insurance company, Medicaid, or the state – afford the test for all newborns? Do the benefits of identifying the disorder justify the cost?

What if I want more newborn screening tests than my state requires?

Many states offer supplemental newborn screening tests beyond what is legally required, but don't pay for it. Health insurance usually covers additional screening, but it's good to verify your coverage beforehand.

Talk to your baby's doctor about your options. For example, he may suggest extra tests if there's concern about a certain condition that runs in the family.

Where can I find more information about newborn screening tests?

Resource centers for newborn screening information include:

  • Baby's First Test
  • National Newborn Screening and Global Resource Center
  • Save Babies Through Screening Foundation

Learn more

Newborn care immediately after birth (video)

Watch the video: Newborn Screening (July 2022).


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