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Newborn Screening: Reporting

The Newborn Screening reports the lab test results the following ways 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. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen.

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. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen.

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. Insufficient or unsatisfactory specimens: A letter is sent to the health care provider requesting a repeat specimen.

Severe Combined Immunodeficiency (SCID)

T-cell Receptor Excision Circles (TREC) are measured by real-time qPCR and will be reported as normal, abnormal, borderline normal birthweight and borderline low birth weight. An abnormal result would be communicated by phone or fax to the provider providing precautionary instructions including consulting with an immunologist. For borderline results, a repeat filter specimen is requested by confirmation letter. A second borderline sample will result in contacting provider by phone or fax and will include follow up with an immunologist.

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 the health care provider. 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.

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.

Newborn Screening Information