The Newborn Screening Program strives for early identification of children at increased risk for selected genetic, infectious, or other congenital disorders. The success of our Program relies on our healthcare provider partners to educate families, collect a suitable specimen and ensure that babies with abnormal test results receive appropriate confirmatory testing and treatment.
If you have questions about a specific disorder, please visit our Screened Disorders page. Disorder-specific patient brochures, if availalble, will be found here.
Changes to Cut-off Values
It is important to educate families about newborn screening during prenatal care, at the time of specimen collection and at the newborn pediatric visits. The American Academy of Pediatrics and the American Congress of Obstetrics and Gynecology publish recommendations regarding newborn screening, including recommendations for parental education.
Newborn screening has the potential to save or greatly improve the life of a newborn, therefore, newborn screening is mandatory in New York State (Public Health Law Section 2500-a, 10 NYCRR Section 69-1.4). Written consent from the parent(s) is not required. Specimen Collection Instructions are provided here.
All Newborn Screening test results are available in a report format seven days after the specimen is received. If there is a special health concern (i.e. family history of a disorder, symptom of a disorder), preliminary screening results may be available the day following receipt. Preliminary results can be obtained by calling (518) 473-7552. Confirmation of results depends on the specific verification test performed, with the longest procedures taking 3 business days. If abnormal results are obtained, the NBS program will notify the ordering physician. Instructions for obtaining results are provided here.
For unsuitable or borderline specimens: A repeat sample is required as soon as possible. The results will be mailed to the hospital of birth designee and the responsible physician. The name of the responsible physician is listed on the blood collection form by the hospital of birth. Primary care providers should not assume that “no news is good news.” The Newborn Screening Program’s initial phone call to request a repeat is made to the hospital of birth. If a repeat is not received, a call is made to the responsible physician of record.
For abnormal results requiring a diagnostic evaluation (referrals): The Newborn Screening Program will call the responsible physician and the closest specialty care center. If a responsible physician was not identified or incorrectly identified, the hospital designee will be contacted. Typically, the specialist and the primary care provider will discuss the case and determine a plan for follow-up testing and consultation.
For HIV abnormal results, the hospital designee is notified exclusively.