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Department of Pediatrics

Newborn Screen

West Virginia University’s Children’s Hospital has begun screening all newborns with a supplemental newborn screen along with the WV State screen. We feel this is a part of quality care that we wish to offer families. This screen is done any time after 48 hours of age and each family is allowed to decline this screen. The screen picks up metabolic disorders and congenital disorders such as cystic fibrosis and congenital adrenal hyperplasia which are presently not screened for by West Virginia. Some of these disorders will be detected before the infant becomes ill allowing treatment to begin early.

If an abnormality is detected by the initial test at times a second sample is needed to confirm the findings. Once an abnormality has been found there are resources to determine the next steps to be taken for this infant. At the present time we are designing a more informative web page for each disorder but the following websites are available for detailed information on each abnormality--
http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm

http://www.pediatrics.org/cgi/content/full/118/3/e934

Here at WVU Children’s Hospital we have resources as listed below to help with care of these infants:

Congenital hypothyroidism and congenital adrenal hyperplasia—Evan Jones, MD PhD
Contact person—Becky Earl RN
Phone-304-293-1222
Pager—304-598-4789 and enter pager number 0675 and follow instructions.
E-mail rearl@hsc.wvu.edu

Cystic Fibrosis—Kathy Moffett, MD
Contact person—Linda Baer RN phone-304-293-1227
Pager--304-598-4789 and enter pager number 0844 and follow instructions
E-mail lbaer@hsc.wvu.edu

Metabolic disorders—Marybeth Hummel, MD
Contact person—Chris Riggs genetic counselor
Phone – 304-293-7332