Screening for Severe Combined Immunodeficiency Added to Newborn Panel
December 7, 2018. RE: Screening for Severe Combined Immunodeficiency
Dear Newborn Screening Submitter: As you may be aware, during the 2018 Regular Legislative Session, House Concurrent Resolution No. 19 requested that the Louisiana Department of Health (LDH) add Severe Combined Immunodeficiency (SCID) to the state’s Newborn Heel Stick Screening Panel. This letter is to notify you that the Office of Public Health (OPH) will begin testing for SCID as part of the Louisiana Newborn Heel Stick Screening Panel effective December 10, 2018.
Severe Combined Immunodeficiency (SCID) includes a group of rare but serious, and potentially fatal, inherited immune disorders in which T lymphocytes fail to develop and B lymphocytes are either absent or compromised. If undetected and untreated, SCID typically leads to death before the baby’s first birthday. Bone marrow hematopoietic cell transplantation may be curative, and outcomes are best if this is performed within the first 3 months of life or before infections occur.
Laboratory Testing Methodology for SCID
Screening for SCID will be conducted as part of the routine heel stick procedure for all newborns. No additional blood is required for this test. Newborn screening for T cell deficiencies is performed by measuring the quantities of DNA that are shed during T cell maturation. This DNA is found in T cell receptor excision circles (TRECS). A positive screen is interpreted as a low TREC result (<40 ng/dl).
Follow-Up on Positive Newborn Screens for SCID
The Newborn Screening Laboratory will notify the OPH Genetic Diseases Program follow-up staff of all positive screens. Medical providers will still be able to access the newborn screening results through the Secured Remote Viewer Web Based System (SRV). The follow-up staff will notify the primary care physicians of the results and assist with referral to a specialist. All patients with a low TREC result should be referred for flow cytometry.
Referral summary for confirmed low TREC results
- Initial Testing: Confirmatory testing: CBC with differential, Flow cytometry can be performed at local or commercial laboratories
- Advanced immunology evaluation: lymphocyte proliferation, identification of molecular abnormality is recommended to be done by Clinical immunologists.
Referral information for Centers and Clinical Immunologists
New Orleans / Baton Rouge / Covington / Lafayette: Jeffrey Modell Diagnostic Center (JMC) for Immunodeficiency at LSU Health Sciences Center New Orleans/Children’s Hospital. The JM Center has outreach clinics in Baton Rouge, Covington, and Lafayette. Phone: 504-896-9589 during working hours; after hours, 504-899-9511 (request the LSU allergy/immunology fellow on call). Sites: www.jmcnola.org and www.chnola.org/Allergy.
JM Center staff: Kenneth Paris, MD, MPH (kparis@lsuhsc.edu — New Orleans, Lafayette); Luke Wall, MD (lwall@lsuhsc.edu — New Orleans, Baton Rouge, Covington); Elizabeth Wisner, MD (elind2@lsuhsc.edu — New Orleans, Metairie); Augusto Ochoa, MD (aochoa@lsuhsc.edu — New Orleans).
Tulane University Department of Pediatrics (New Orleans): Jane Maroney El-Dahr, MD (jeldahr@tulane.edu); John Carlson, MD (jcarlson@tulane.edu).
Shreveport: Sami Bahna, MD, DrPH — LSU Health Sciences Center, Chief, Allergy/Immunology Section, 1501 Kings Highway, Shreveport, LA 71130. Phone: 318-675-7625.
Stem cell transplantation (bone marrow or cord blood) in Louisiana is available at Children’s Hospital in New Orleans through the hematology/oncology division and clinical immunologists at LSU Health Sciences Center.
For more information regarding testing for SCID or other newborn screening tests, please contact the Genetic Diseases Program at 504-568-8254 or visit www.ldh.la.gov/genetics.