Newborn Screening
Reporting
The Newborn Screening reports the lab test results the following way for the type of test being performed.
Congenital Adrenal Hyperplasia (CAH)
17-OH-Progesterone results are reported normal, borderline or abnormal. For borderline results, a repeat filter paper specimen is requested. The health care provider is contacted regarding abnormal results by confirmation mail. A repeat blood spot specimen is also requested to be submitted to the NCSLPH. If there is no response within 14 days, a confirmation mail letter is sent to the parents. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen. If there is no response in 14 days, a confirmation mail letter is sent to the mother.
Cystic Fibrosis
Cystic fibrosis (CF) testing is performed with a two-tier screening process. Specimens are first tested to determine the concentration (ng/mL) of immunoreactive trypsinogen (IRT). The top 5% of specimens with the highest IRT values then undergo DNA testing using a panel of over 40 common CF mutations. Specimens with no mutations and an IRT value ≤175 ng/mL are reported normal for CF. Specimens with one or two mutations, or with an IRT value >175 ng/mL and no mutations are reported as abnormal for CF. A DNA report will accompany all abnormal CF reports and will contain the actual IRT value and the specific mutations detected. All abnormal results are called to follow-up staff who contacts the baby’s health care provider to arrange for sweat testing at an accredited CF center.
Galactosemia
Galactose results are reported as normal or abnormal. Results are reported normal if the results are less than 10 mg/dL. All samples with galactose results greater than 10 mg/dL will have a qualitative galactose-1-phosphate uridyl transferase (GALT) test performed. If uridyl transferase activity is absent or reduce quantitative uridyl transferase and phosphoglucomutase tests are performed to rule out the possibility of sample deterioration. Uridyl transferase testing is also performed on all samples from infants with soy formula, parenteral or unknown feeding. All abnormal results are called to the follow-up personnel who will contact the baby´s health care provider about follow up. If there is no response within 14 days, a confirmation mail letter is sent to the mother. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen. If there is no response in 14 days, confirmation mail letter is sent to the mother.
Primary Hypothyroidism
Thyroid results are reported as normal, borderline, or abnormal. On borderline results, a repeat filter specimen is requested by confirmation mail letter. For abnormal results, the infant´s healthcare provider is contacted by telephone by follow-up personnel regarding abnormal results. For abnormal values, immediate serum thyroid testing (T4, TSH, and T3Uptake) is requested to be done locally. If there is no response within 14 days, a confirmation mail letter is sent to the mother. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen. If there is no response in 14 days, confirmation mail letter is sent to the mother.
Sickle Cell Disease
Sickle cell results are reported as normal if no abnormal hemoglobin is detected. Heterozygote S, C, or E results are reported as trait, and a letter is sent to both the health care provider and the parents. Homozygote S,C, SC, E or F results are reported abnormal to the physician by the Division of Women's and Children's Health and appropriate follow up is requested. This may include additional testing on whole blood samples from the infant and the biological parents. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen. If there is no response in 14 days, a confirmation mail letter is sent to the mother.
Tandem Mass Spectrometry
An amino acid profile and acylcarnitine profile are measured to detect disorders in amino acid, fatty acid oxidation and organic acid metabolism. Results from each profile are reported as normal, borderline, or abnormal. Normal results require no further specimen submission, unless clinically indicated. For insufficient/unsatisfactory specimen and for borderline or abnormal results, a repeat blood spot specimen is requested to be collected by the health care provider and submitted to the North Carolina State Laboratory of Public Health. Abnormal results are called to a Metabolic Specialist who contacts the baby's health care provider to arrange for clinical evaluations and additional specimen to be collected for clinical diagnosis. If there is no response within 14 days, a confirmation mail letter is sent to the mother.
See also:
- Newborn Screening
- Disorders Tested
- Conditions Tested
- Cystic Fibrosis
- Specimen Collection
- Reporting
- Form Training
- A Test to Save Your Baby's Life
- A Test to Save Your Baby's Life (Spanish version)
