Universal Newborn Screening | Every Child. Every Time. Everywhere.

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UNBS in the News Diseases My State Screens For American College of Medical Genetics Summary State by State

For Parents of Children Born In WNY

What should I do if my child has a positive screen in Western New York?

When a child has a positive newborn screen, results of newborn screening in Western New York are sent to:

Physician of record
Hospital of record
ONE of the following
- For inherited metabolic diseases: Dr. Richard Erbe (Women & Children's Hospital of Buffalo)
  Phone: 716-878-7411
- For sickle cell disease and other hemoglobinopathies: Dr. Mary Jane Petruzzi, Phone: 716-878-7116 (Linda Herm, PNP)
- For endocrinopathies congenital hypothyroidism, congenital adrenal hyperplasia: Dr. Theresa Quattrin and endocrine faculty Phone: 716- 878-7588
- For HIV: Dr. Robert Welliver
  Phone: 716- 852-1578 ext. 239 (Babette)
- For Cystic Fibrosis: Dr. Jack Sharp and pulmonary faculty
  Phone: 716-878-7524
The family is contacted by personnel from the appropriate specialty center, and information is gathered regarding clinical status of the newborn.
The patient is scheduled for an appointment at Women & Children's Hospital of Buffalo within 24-48 hours. (The timing of the first visit is influenced by the clinical status of the baby and the nature of the disorder; i.e., whether emergency care is necessary.)
At the first visit, baby is examined. A detailed medical and family history is obtained, and confirmatory testing is performed. [PLEASE NOTE: Screening tests are not diagnostic tests. In order to not miss any affected children, far more children are “screen positive” than actually have the diseases. Therefore, additional confirmatory tests are necessary to identify those (the minority) who actually have the disorder. For certain disorders (maple syrup urine disease, urea cycle disorders, galactosemia) “screen positive” babies may begin therapy before definitive confirmatory testing is completed in order to achieve the best possible results.
Once diagnosis is confirmed:

Results of tests are explained
Questions regarding treatment, inheritance, and prognosis are discussed
A plan for future follow-up is made.

Does your child weigh less than 2.2 lbs.?
Underweight newborns/preemies will have a different follow-up protocol with newborn screening.

Funding for this page was made available by the Katherine & John Mac Donald Foundation established in 1968 and the Marjorie Joyce Simmons Memorial Fund established in 1990 through a grant from the Community Foundation for Greater Buffalo.

The information presented here is intended for educational purposes only. If you have specific questions regarding a personal condition, please seek the advice of a qualified healthcare professional.