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Newborn Screening - Overview of Laboratory Testing

The screening program performs blood testing and processes the data from over 275,000 specimens annually, an average of 1,100 specimens daily. Specimens are received in the Accessioning Unit Monday through Friday (except holidays) at approximately 8:30 A.M. and 10:00 A.M. Each specimen is assigned a unique laboratory accession number and this is entered into a dedicated, secure Newborn Screening laboratory information management system (LIMS). Demographic data on all specimens are entered and verified in the LIMS. If information on the blood collection form is missing, the hospital is called to obtain the required data. Testing is started on each specimen the day it is received in the laboratory.

Testing is performed on individual 3 mm specimen discs punched out of the newborn blood spots. Remaining blood spots on the card are securely stored for up to 27 years to allow for any required follow up or new testing as authorized (see specimen retention policy). Newborns with specimens that on initial and confirmatory testing yield abnormal results, require further evaluation and diagnostic testing (referral level). These results are phoned to an appropriate New York State-certified specialty care center and to the healthcare provider of record. The involved healthcare providers then consult on the next steps to be taken and inform the family of the test results, any further testing that is required, and the treatment plan. Additional information on NYS-certified specialty care centers can be found under the specialty care center pages.

After all testing is completed and results are reviewed, the results for each newborn are electronically combined with the corresponding demographic information and an official report is created. Screen positive test results are sent to the specialty care center and/or the physician of record and the appropriate designee at the hospital of birth. Screen negative summary reports should be accessed via the SRV by the designated person at the baby’s hospital of birth. Results are typically available within 5 working days of receipt.

Special Cases

The Newborn Screening Program is very interested in promptly learning of any special cases. These would include newborns with a known family history of a tested disorder, parents that are known carriers, those with existing positive prenatal testing, or those who develop early clinical signs suggestive of any of the disorders on the screening panel. In these cases, the infant’s confirmatory testing is expedited and results are telephoned to the medical providers when testing is complete. If an infant becomes symptomatic, it is recommended that a specimen be collected and shipped using an overnight carrier, even if an initial specimen has been collected previously. Call the Newborn Screening Program to alert Program staff to the existence of a health concern.

Additional Newborn Screening

Perinatal Hepatitis B Prevention Program: Screening of all pregnant women for evidence of infection with Hepatitis B virus - Hepatitis B surface antigen (HBsAg), is required by Public Health Law 2500e, with details in 10 NYCRR Subpart 69-3. The result of the maternal HBsAg test is recorded on the newborn screening blood collection form (since May 1991). This information identifies infants in need of follow-up, since newborns whose mothers are positive for HBsAg are at increased risk for hepatitis B infection. HBsAg data collected on the newborn specimen form is transmitted to the Perinatal Hepatitis B Prevention Program at the New York State Department of Health for appropriate follow-up. More information can be found at the New York State Perinatal Hepatitis page.

New York State Early Hearing Detection and Intervention Program: Newborn hearing screening is a component of the NY Early Hearing Detection and Intervention Program. NYS Public Health Law requires all maternity hospitals and birthing centers to administer newborn hearing screening programs. For further information for healthcare providers and parents, go to the New York State Newborn Hearing Screening page.