Find Information About:

Drugs & Supplements

Get information and reviews on prescription drugs, over-the-counter medications, vitamins, and supplements. Search by name or medical condition.

Pill Identifier

Pill Identifier

Having trouble identifying your pills?

Enter the shape, color, or imprint of your prescription or OTC drug. Our pill identification tool will display pictures that you can compare to your pill.

Get Started
My Medicine

My Medicine

Save your medicine, check interactions, sign up for FDA alerts, create family profiles and more.

Get Started

WebMD Health Experts and Community

Talk to health experts and other people like you in WebMD's Communities. It's a safe forum where you can create or participate in support groups and discussions about health topics that interest you.

  • Second Opinion

    Second Opinion

    Read expert perspectives on popular health topics.

  • Community


    Connect with people like you, and get expert guidance on living a healthy life.

Got a health question? Get answers provided by leading organizations, doctors, and experts.

Get Answers

Sign up to receive WebMD's award-winning content delivered to your inbox.

Sign Up

Health & Baby

Font Size

How Helpful Is Expanded Newborn Screening?

New Screening Method Is Good, but Parents Need More Information
WebMD Health News

Nov. 18, 2003 -- It's every parent's nightmare: His or her baby is slow to develop or dies suddenly, the victim of a rare genetic disorder that could have been treated -- if it were only detected and treated early.

Since the 1960s, the PKU screening test has been performed in every state to detect one such condition -- phenylketonuria, a rare inherited condition that can cause mental retardation and neurological problems if treatment is not started within the first days of life. Most states also require testing for congenital hypothyroidism. A handful of other diseases have been added over the years on a state-by-state basis. But in recent years, a newer expanded newborn screening procedure has been available -- tandem mass spectrometry can detect at least 20 metabolic disorders in a single evaluation.

One Procedure, 20 Tests

Instead of testing for individual disorders with specific tests, this procedure can screen for a host of conditions from a few drops of blood taken from the newborn's heel typically within 48 hours of birth. The blood is examined for the presence of high levels of certain fatty acids, amino acids, or other chemicals that could signal a genetic defect in how their body processes them.

But while tandem mass spectrometry -- now done in 24 states, sometimes by mandate -- can identify an otherwise undetected rare disease, there are concerns over making this a standard in newborn screening.

This one test can identify numerous genetic conditions but its start-up costs are steep -- typically about $400,000 for the necessary equipment. And there are concerns that these tests might lead to unnecessary parental stress and hurried, uneducated, and fragmented decision-making.

A study in this week's Journal of the American Medical Association addresses some of those concerns. Researchers say tandem mass spectrometry offers many benefits, along with some drawbacks, compared with having newborns evaluated through a medical exam alone.

"Our data suggests that expanded newborn screening prevents the most severe consequences of these biochemical genetic disorders -- it works," says lead researcher Susan E. Waisbren, PhD, of Children's Hospital Boston and Harvard Medical School. "

Children identified with genetic disorders by newborn screening may experience fewer developmental and health problems, and they function significantly better in diverse areas of daily living, write the researchers. "It's a huge benefit," she tells WebMD.

1 | 2 | 3

Baby's First Year Newsletter

Because every week matters, get expert advice and facts on what to expect in your baby's first year.

Today on WebMD

mother on phone holding baby
When you should call 911.
parents and baby
Unexpected ways your life will change.
baby acne
What’s normal – and what’s not.
baby asleep on moms shoulder
Help your baby get the sleep he needs.

mother holding baby at night
mother with sick child
Chinese mother breast feeding newborn baby girl
Track Your Babys Vaccines
Baby Napping 10 Dos And Donts
Woman holding feet up to camera
Father kissing newborn baby
baby gear slideshow