Screening Information

What Does Your Canadian Province Screen For?
Click here to find out how your province stacks up.

Benefits of Comprehensive Screening
Early detection of disorders and conditions detectable through comprehensive newborn screening (CNBS) is vital.

Problems in Newborn Screening
Although disorder disparity has been the "poster child" for problems in newborn screening, needed improvements are not limited to just adding more disorders to the test.

Rare Diseases: Are They Really That Rare?
Did you know that that approximately one out of every 1,500 US babies will be born with a disease detectable through NBS?

Some SIDS Cases Can Be Solved: They Are Cases of Detectable Disorders
Most routine newborn screening tests do not screen children for the disorders that have been linked to Sudden Infant Death Syndrome (SIDS). Because these children appear normal and healthy, it is not suspected that they have an underlying disorder that could cause sudden unexplained death. Even after death, many times these children are undiagnosed and said to be cases of SIDS. Proper comprehensive screening would allow diagnosis and treatment of these disorders, thus allowing most of these children to avoid early death and to live normal lives.

A Parent's Guide To Newborn Screening Handout
An information handout, entitled "A Parent's Guide to Newborn Screening", supplies information on newborn screening and is written specifically for new and expectant parents. The handouts are intended to be given to expectant parents during the third-trimester of pregnancy.

Download the handout in ENGLISH
Download the handout in SPANISH
Order printed copies of the handout by emailing Jill Levy-Fisch.

Technology Catapulted Screening Into A New Dimension
Tandem mass spectrometry enables more than 30 additional diseases to be added to the screening test.

Interesting Facts About Newborn Screening

Did You Know . .

**Less than 10% of babies born in the US currently get comprehensive screening for all metabolic, endocrine and hematologic disorders already detectable through existing routine newborn screening programs.

**Six babies are born everyday in the US alone that have disorders detectable through newborn screening, but go undetected because they aren't screened.

**Newborn screening can detect more than 35 disorders.

Most disorders detectable through newborn screening are treated by diet restrictions.

Where to Get Supplemental Screening
Because your child's routine newborn screening test may not be enough, supplemental newborn screening is recommended to ensure your baby receives comprehensive newborn screening.

Laboratories
Contact one of the laboratories below to find out how to obtain a parent packet. Packets contain screening materials and information for you and your physician. The screening packet should be obtained several weeks prior to delivery so that arrangements can be made in advance for the hospital to draw an extra sample of your baby's blood when the routine newborn screening is done.

Note: A limited number of free newborn screening packets is available each month for expectant parents who qualify. Click on Packets for Parents for information.

Lab information is subject to change. Contact individual labs for their most current info.

This facility offers full screening using multiple screening methods and equipment:
PerkinElmer Genetics, Inc
1-866-463-6436
50+ disorders $95.35

Also Available Newborn Screening Packets for international locations.
For more info on packets go to StepOne® Newborn Screening.

These facilities offer screening through one machine only (tandem mass spectrometer); these disorders are not screened for by these laboratories: Biotinidase Deficiency (BD), Congenital Adrenal Hyperplasia (CAH), Cystic Fibrosis (CF), Galactosemia, Hypothyroidism (congenital), Sickle Cell Disease (SCD), and Hemoglobinopathies.

Mayo Medical Laboratories
1-800-533-1710
35 disorders for $57.30
Ask for Supplemental Newborn Screen, MML Test #82594
By physician order only

Baylor Medical Center
1-800-422-9567
30+ disorders for $25
Not Available in New York

University of Colorado Health Sciences Center Biochemical Genetics Laboratory
1-303-724-3826
20+ disorders for $25

What's Next?
Let your doctor know you would like to have an extra blood sample drawn at the time of your baby's routine newborn screening. Because supplemental screening has not been available everywhere until recently, your doctor may not know about supplemental screening. Be prepared to educate your doctor.

Older Babies and Children
Older babies and children can be screened for the same disorders covered by the newborn screening test. PerkinElmer Genetics, Inc., Mayo Medical Laboratories, and Baylor Medical Center offer this service. See lab contact info above. Note that Mayo Medical Laboratories limits its screening to physician order only. Lab information is subject to change. Contact individual labs for their most current info.

Shipping and Test Results
The supplemental test is best sent to the NBS laboratory via overnight carrier. As with your baby's routine screening, if the screening is abnormal, your baby's physician will be contacted immediately. If the screening is normal, results will be sent through the mail.