California Newborn Screening Program
WHEN TO COLLECT SPECIMENS
Timing the Collection (Section 6505)
Obtain a specimen from a newborn using the following requirements and guidelines:
Newborn screening specimens should ideally be collected between 12 and 48 hours of age, but no later than four days of age, and before discharge.
Specimens should be collected early enough to allow for 3 hours of drying time, prior to same day or next business day shipment to the lab.
For newborns transferred to another facility before four days of age:
- The birth hospital is to obtain a specimen following above guidelines. Send a copy of the TRF form to the receiving hospital.
- The hospital of birth must complete and send to the Genetic Disease Branch the form "Hospital Report of Newborn Specimen Not Obtained (NBS-NO)" if the baby is transferred without collecting a specimen. Send a copy to the receiving hospital.
For newborns not born in a licensed perinatal health facility:
- If admitted to a licensed health facility within four days of age, follow the above guidelines unless there is evidence a specimen was already obtained.
- If admitted after four days, obtain specimen within 48 hours unless there is evidence it has already been obtained.
Out of Hospital newborn screening providers shall:
Collect the newborn screen between 12 and 48 hours or age, or by 48 hours of initial contact with the infant.
- The birth registrar provides the person registering the birth with the pamphlet "Important Information for Parents of Babies Who Have Not Yet Had the Newborn Screening Test" and information about how to have the baby tested. The registrar also completes the NBS-OH form, "Notification of Registration of Birth Which Occurred Out of a Licensed Health Facility," and sends it to GDSP.
If a transfusion is anticipated:
- Collect the specimen prior to the transfusion of red blood cells, even if the newborn is under 12 hours of age. Infants who are transfused with red blood cells (RBC) must have a specimen collected prior to the transfusion. [Transfusions with plasma, platelets, or albumin will not significantly affect the screening.] In post-RBC-transfusion specimens, the donor's hemoglobin type can mask the newborn's. The donor blood can also supply the enzyme that the galactosemia screening measures, so that the specimen collected from a transfused newborn with low enzyme levels could appear normal. Futhermore, the signs and symptoms of galactosemia may be masked in the newborn who is receiving only a non-milk-based (lactose-free) formula, e.g., soy, Nutramigen®.
- If the neonate is less than 12 hours old at the time the pre-transfusion specimen is collected, a second specimen should be collected between 24 hours after the last transfusion and four days of age.
- Neonates who received intrauterine transfusion(s) should have both a newborn screen and Hb DNA testing on a whole blood specimen sent to the Hemoglobin Reference Laboratory. Contact the Area Service Center coordinator for collection and mailing information. The newborn's physician will need to monitor the child for signs of galactosemia.
- If no adequate specimen was obtained prior to transfusion, collect one sometime between 24 hours post-transfusion and the fourth day of life for other newborn screening conditions. Contact the Area Service Center coordinator for instructions on collection of a liquid blood specimen for hemoglobin DNA testing to be done at the hemoglobin reference laboratory as soon as the baby is stable. The baby's physician will need to monitor the child for signs of galactosemia.
- Alternatively, the cord blood specimen, if available, could be submitted as the pre-transfusion specimen for galactosemia and hemoglobin pattern. A heelstick specimen, which should be collected at least 24 hours after the transfusion, will provide results for other newborn screening conditions. Together, these two specimens represent a complete screen without needing to wait for three months.
The cord blood must be nonhemolyzed and free of clots, and is spotted on an NBS I-form. The test request form should indicate "cord blood." The specimen collection time is the same as the time of birth. This situation, i.e., providing a pre-transfusion specimen, is the only circumstance in which the use of cord blood is acceptable.
Hospital well-baby nursery and NICU protocols must, at a minimum, reflect current NBS Program regulations. For assistance in developing or modifying procedures to meet State regulations and recommendations, contact the Area Service Center Newborn Screening Coordinator in your area.