Office of Newborn Screening

Healthcare Providers – Responsibilities

The following are the responsibilities of the medical provider as a partner in the Office of Newborn Screening:

Inform Parents about Newborn Screening

Convey the importance of newborn screening and consequences of delayed identification of affected infants:
- there is no way of predicting affected babies
- most are identified with no family history
- most affected babies look normal at birth
- permanent damage can be done before symptoms appear and some babies can die
Provide educational materials to parents of any baby who has a bloodspot test ordered:
- Newborn Screening Parent brochures (in English and Spanish) can be ordered at no charge from the Office of Newborn Screening and give parents contact information and a description of the newborn screening process.
Carriers for CF, hemoglobinopathies and some other disorders are identified:
- CF and occasionally other carriers and hemoglobin traits are detected for every confirmed disease case detected, 8-10 carriers are identified.
- Carrier information is important for the baby when grown and planning a family it should be recorded in the baby's medical record
- Having a carrier baby should also prompt parents to check carrier status for both of them so that they know the chances of having an affected baby in a subsequent pregnancy. If a baby is a carrier it means that at least one of his parents is also a carrier but it is possible that both parents could be carriers and in that case they could have a baby with a disease.

Collect Acceptable Bloodspot Specimens

One large drop of blood per circle yields a uniform amount of blood in each punch for testing
Mother's name and DOB included – needed for matching specimens
Accurate contact information for mother – needed for notification of abnormal results

Ensure Timely Collection of Specimens

For well babies:
- Ideal collection time for first screens is at 24-36 hours of age
- Collect prior to transfer to another hospital or discharge
- Medical home will collect second screen at the first outpatient visit or 5-10 days of age, whichever comes first
For NICU babies:
- Ideal collection time for first screens is at 24-36 hours of age
- Collect prior to factors that influence results even if earlier than 24 hours of age (transfusions, ECMO, therapies, parenteral feeding)
- Collect prior to transfer to another hospital
- If in hospital at 5 days of age, collect second screen between 5-10 days of age or before discharge, whichever comes first

Transport Specimens Promptly to the State Lab

Each specimen sent no more than 24 hours after collection or on the next business day (Hospitals may use their own couriers or free ADHS-provided FedEx overnight delivery. Other providers can send by mail or courier.)
Package sent each weekday (5 per week)
Friday package especially important for delivery on Monday so that no more than the weekend delays testing

Document Newborn Screening Results in the Medical Record

Verify that results of hearing screening and both bloodspot screens have been recorded in the baby's medical record
Medical home will have to ask for bloodspot results if their doctor's name was not on the collection kit
Newborn screening results should be noted in the NICU discharge summary sent to the medical home
To obtain newborn screening results, call 602-364-1409 or fax a request to 602-542-4099 for any missing reports

Follow-Up on any Abnormal Results

Perform and Report Hearing Screening

Hearing screening should be done prior to discharge from the hospital—all babies should be screened by one month of age
Repeat screening as outpatient, if a referral
Unless high risk who go direct to a diagnostic test with an audiologist
Report all testing weekly to the Office of Newborn Screening
Include identifying information (mother's name and DOB to help match results and avoid duplicates in database)