Newborn Screening

Paul, Sue, Micki, Mei and Josh at Wisconsin Newborn Screening Lab

Newborn Screening is a simple test to identify babies who may have serious medical conditions. Most babies should get their first newborn screen done before going home from the hospital or birth center, ideally between 24 and 48 hours of age.

At the hospital or birth center your baby will usually have a blood screening test, a hearing screen, and possibly a screen for heart problems. Sometimes called the PKU or Heel Stick test, the blood screening is done by pricking your baby’s heel and collecting a few drops of blood onto a special filter paper. The filter paper is sent to a newborn screening laboratory where all of your state’s screening tests are done. You will receive the blood screen results shortly after you leave the hospital. The other screening tests will usually be done in the hospital by trained staff members and the results shared at the time of the screen.

Newborn Screening in Your State

The savebabies.org website has a comprehensive map of the United States. Click on your state to find out what disorders are screened.

Research

Mei Baker, M.D. – University of Wisconsin, Madison WI, Improving IRT/DNA Newborn Screening for Cystic Fibrosis to Reduce False Positives by a New Molecular Strategy

Newborn Screening: 50 Years of Saving Lives

Christine and Kevin Brown of Tomahawk, Wisconsin, had never heard of phenylketonuria (PKU) until 2005, when they received a phone call telling them their second son, Connor, had an abnormal newborn screening (NBS) test result. Despite their hopes that it was a mistake, a second test confirmed the results. 

Read the full article

Newborn Screening Research, Dr. Dietrich Matern - Mayo Clinic

Newborn screening is a public health program aimed to identify treatable conditions in presymptomatic newborns to avoid mortality, morbidity and disabilities. With the advent of successful treatment and population screening options for an increasing number of lysosomal storage disorders (LSDs), Friedreich Ataxia, Wilson disease and X-adrenoleukodystrophy, inclusion of these conditions into newborn screening programs seems reasonable. However, larger scale, prospective screening studies have been conducted for only a few of these conditions, and such pilot studies were limited to single conditions where one dried blood spot (DBS) sample was required to measure one analyte as opposed to taking advantage of methods that allow for measurement of several disease markers in the same specimen (multiplexing). Accordingly, little is known to date about performance characteristics of the applied screening tests, such as false positive (FPR) and false negative rates (FNR), positive predictive values (PPV) and detection rate.

Mayo Clinic's Biochemical Genetics Laboratory with generous support from The Legacy of Angels Foundation, the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (Contract #HHSN275201000017C), and the Newborn Screening Translational Research Network (NBSTRN; subcontract #HHSN275200800001C 01) is currently performing a comparative effectiveness study of three screening platforms for the detection of up to 13 different LSDs, Friedreich Ataxia, Wilson disease and X-adrenoleukodystrophy. During this study 100,000 de-identified leftover NBS samples are tested to determine the most efficient and effective approach to newborn screening for these conditions.

Save Babies Educational Video

Save Babies Through Screening developed this educational film, in English and Spanish, to share experiences of parents and expert opinions regarding the newborn screening process. It contains information that could save a baby's life. The Legacy of Angels Foundation provided a grant to the Save Babies Through Screening Foundation to fund the development of this video.

Order DVD copies of this film free of charge

Newborn Screening Saves Babies.....One Foot At A Time (ENGLISH) from Save Babies on Vimeo.

Resources for Families

The following links are for informational and educational purposes. Listing these resources does not mean that The Legacy of Angels Foundation endorses or recommends them.