Testing and Reporting:
Tandem Mass Spectrometry
Recent advances in technology and treatment have allowed newborn screening programs to expand their panel of disorders offered. A major advance in newborn screening has been the application of a new technology, tandem mass spectrometry (MS/MS). This instrument identifies compounds of interest by weight and determines their amounts present in the dried blood spot.
MS/MS is very specific and accurate, and can measure multiple compounds simultaneously from one bloodspot within its two-minute analysis time. MS/MS allows for the detection of more than 20 disorders of fatty acid oxidation, some organic acidemias, and amino acid disorders.
Limitations of Screening
The purpose of a screening test is to sort out apparently healthy individuals who have a disease from those who do not. However, screening programs are, by nature, imperfect. In setting cutoffs, a balance must be struck between time, money, anxiety caused by false positives, and, unfortunately, an acceptable number of missed cases.
Biological variability and/or human error can result in missed cases. Transfusions can lead to false negative results. Errors can occur at the specimen collection site, when the specimens are in transit, at the laboratory, in computer processing of results, and/or in the reporting process.
The Georgia Newborn Screening Program has educational and monitoring mechanisms in place to prevent and investigate any possible problems. However, it is still critical for health care providers to remain watchful for any signs or symptoms of these disorders in their patients. Any signs or symptoms of a disorder should be followed up immediately. The possibility of a disorder should not be ruled out solely based on the newborn screening test result. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable healthcare provider. If a baby’s diagnosis was delayed because of a normal newborn screening result, the State will investigate the case to determine if changes in policies or procedures are necessary
Dried Blood Spot Disposal
Storage and Use of Newborn Screening Dried Blood Spot Specimens
The Georgia Department of Public Health (DPH) recognizes the sensitive nature of the newborn screening dried blood spot specimens (DBS). DPH shall protect the privacy of newborns and their families by assuring that all specimens are protected from inappropriate use or access. This policy delineates: (1) how the newborn screening specimens will be stored after receipt by the Georgia Public Health Laboratory (GPHL), (2) the length of time that the specimens will be stored, (3) who will have access to the specimens, (4) the appropriate uses of the specimens, (5) the disposal of the specimens, and (6) any release of specimens to another entity.
Upon receipt by the GPHL newborn screening DBS are stored refrigerated (i.e., 2-6oC) or at ambient temperature (i.e., 18-25oC) until testing is completed. After testing is finished, the DBS are stored in a walk-in refrigerator until disposal.
All DBS are retained for twelve (12) weeks after testing is completed in order to allow for re-analysis if questions arise concerning the test results. Specimens that are presumptive positive for any of the diseases included in the newborn screening panel are stored in low gas-permeable, zip-closure bags with desiccant and humidity indicator cards along with CDC quality assurance materials (base and elevated DBS) as recommended by the Clinical and Laboratory Standards Institute (CLSI)1. These presumptive positive DBS, required for laboratory quality assurance purposes, may be stored at the GPHL for up to two years at 2-6oC.
The GPHL is a secure facility. Access is through key-cards distributed to employees. All visitors must sign in and out with the armed security guard at the front desk, which is manned 24/7. They must be accompanied at all times by a staff member. Access to newborn screening specimens is restricted to GPHL staff involved with specimen receipt, testing, data entry, and laboratory management.
Use of Specimens
Retained DBS and associated demographic information can be used for the following purposes:
- Re-analysis to confirm the original test results.
- Internal method development and method validation studies, including the setting of appropriate cutoffs or normal ranges.
- Quality assurance audits and gap analysis.
- De-identified DBS aliquots may be sent to another laboratory when the reason for sending the aliquot is:
- Confirmation of an unusual newborn screening result;
- Participation in a specimen-exchange program designed to improve the quality of testing in newborn screening laboratories; or
- Providing assistance to another laboratory in developing or validating a newborn screening method (requires a statement from the laboratory requesting the specimens that specifies how the specimens will be used, and written approval from the GPHL Director).
DBS will be autoclaved and then handled as medical waste, which involves off-site incineration.
Release of Specimens
In addition to the applications described above under Use of Specimens DBS, may be transferred to other entities as delineated below:
- An entity that has a contract with DPH to perform additional (i.e., second tier) testing in response to an out-of-range screening result.
- A health care provider at the request of the patient, legal guardian, or legal representative after completing and signing a written request form approved by DPH.
- A researcher with written, informed consent from the patient, legal guardian, or legal representative as long as the research project has been reviewed and approved by DPH.
- A named person in a legally executed subpoena following review and approval by the attorney general or his/her designee.
- A person to who release is mandated by order of a court of competent jurisdiction.
Any parent who desires to have his/her child’s newborn screening specimen (presumptive positive or confirmed case) destroyed twelve weeks after completion of testing may request such action in writing. Any parent who desires assurance that his/her child’s specimen has been destroyed at after completion of testing may request confirmation of such action in writing.
Information on the retention and potential use of residual newborn screening specimens is available through the Department’s newborn screening brochure and on its website.
1Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard – Fifth Edition (LA4-A5). CLSI Vol. 27, No. 20
Testing and Reporting
A written report of newborn screening results is mailed to the hospital of birth and the clinician listed on the screening card, provided that this information was filled in. Authorized providers can access newborn screening results on-line through the State Electronic Notification Surveillance System (SendSS).
This section provides additional details on the lab testing, methods for obtaining test results and instructions for responding to requests for re-screening. Results for specimens received after July 11, 2011 to the present are available through the eReports web portal.
Testing: Lab Test
Sample Acceptability/Unsatisfactory Specimens
When testing a sample, the Laboratory makes four 1/8" punches from each "circle". Therefore, it is necessary that blood fills up the entire circle and soaks through the filter paper but does not alter the homogeneity of the filter paper surface. Prior to testing, all specimens are inspected for acceptability. Those not acceptable are reported as "UNSATISFACTORY - PLEASE RESUBMIT." When a specimen is declared "unsatisfactory", the hospital and clinician listed on the screening card are promptly notified. Submitting invalid specimens lead to the inconvenience of retesting and delays in screening, placing the newborn at risk for delayed diagnosis of a screened condition. THE INFANT MUST BE RE-SCREENED AS SOON AS POSSIBLE. It is the responsibility of the birth hospital and the listed clinician to retrieve the newborn for a repeat collection.
Currently, specimens that are declared "unsatisfactory" are tested if there is blood on the screening card. If an abnormal result is found, in the interest of the child, it is reported to the appropriate follow-up program but no other results are reported.
Categories of Unsatisfactory Specimens
- QNS – quantity of blood not sufficient for testing
- Unevenly Saturated – blood has not completely filled the circle and/or soaked through the filter paper from front to back
- Oversaturated – excessive application of blood; repeated layering of blood; applying blood to both sides of the filter paper
- Roughed Up – excessive handling of the specimen card; drying the specimen with heat
- Capillary Application – uneven application of blood from a capillary tube; tearing the filter paper with the capillary tube
- Crumpled – excessive blood application that results in clumps/clots/retraction of the filter paper (Appears as though filter paper was put in water and then dried)
- Contaminated – excessive squeezing of the puncture site produces serous fluid; filter paper in contact with: alcohol/antiseptic solution, hand lotion or powder, food or water
- Obsolete form – out of date filter paper form. (Check expiration date printed on green top sheet of specimen card)
- Delayed – specimen received by the laboratory 7 days after the date of collection
- No Blood – no blood on the filter paper
- Insufficient Information – failure to complete form
- Invalid Data – data on form cannot be true (e.g., date of collection prior to date of birth)
- Illegible Data – data entry staff cannot read submitter’s writing
- Blood reattached to form – filter paper with blood is stapled or reattached to the form. Does the blood specimen belong to this baby? (If you are certain that you have reattached the blood spot to the correct baby, attach a letter of verification and send to the laboratory with the specimen.)
All specimens are tested by the primary screening method. Abnormal results are then confirmed in duplicate and, if necessary, a second confirmation test is done. Screening results are usually available 2-3 working days after the specimen is received by the newborn screening lab. Results for specimens labeled as a "Requested repeat" are usually available in 1-2 working days.
A written report of all newborn screening results is mailed to the hospital of birth and the clinician listed on the screening card, if this information is included.
Depending on the disorder, abnormal results may be reported as:
- "Above normal limits" with a value given
- "Below normal limits" with a value given
For abnormal hemoglobin results, the hemoglobin type is given with a brief explanation. All abnormal results are reported to the appropriate Follow-up Program.
Testing: Obtaining Test Results
The Georgia Public Health Laboratory will mail laboratory results to specimen submitters.
Authorized providers can access “unofficial” newborn screening results through the State Electronic Notification Surveillance System (SendSS). This web-based system enables registered providers to access screening test results 24 hours a day/7 days a week. To ensure confidentiality and security, a username and password that the provider chooses at registration is required to access the system. To register for SendSS, visit https://sendss.state.ga.us/sendss/login.screen.
After filling out this form, mail to:
Newborn Screening Laboratory (VRS Enrollment)
Georgia Public Health Laboratory
1749 Clairmont Road
Decatur, GA 30033-4050
Once you are registered with the system, screening results for any child born in the State of Georgia can be accessed using the newborn screening form number. Call 404-321-2293 or 404-321-2294 or 404-321-2297 and follow the voice prompts to gain access and to obtain test results.
If you have questions, please call 404-327-7950.
The hospitals, public health clinics, and physicians' offices may receive a request, by phone and letter, to collect a specimen for repeat testing.
- When submitting a specimen for repeat testing:
- Give the complete information requested on the form. Make certain all copies are legible.
- Give the name of the physician, hospital, or public health clinic that should receive the result and will be responsible for follow up on the infant.
- When collecting a repeat specimen, please check the appropriate boxes on the form: " RETEST – Prior Unsatisfactory" or "Retest – Prior Abnormal (REQUESTED BY STATE LAB)".
- The first test was unsatisfactory. Check " RETEST – Prior Unsatisfactory".
- The infant's first screen was collected too early, Check " RETEST – Prior Unsatisfactory".
- The infant is premature or low birth weight. Check " RETEST – Prior Unsatisfactory".
- The infant had a previous abnormal test result. Check "Retest - Prior Abnormal (REQUESTED BY STATE LAB)".
- If the repeat specimen is being collected due to an early collection, please write “<24” in the box after “Prior Unsatisfactory”.
- If the repeat specimen is being collected due to premature or low birth weight, please write “LBW” in the box after “Prior Unsatisfactory”.