Molecular Technology in Newborn Screening: SCID and Beyond

While molecular technologies have been used to support newborn screening since the 1990s, severe combined immunodeficiency (SCID) is the first molecular test used as the primary screening test in state newborn screening programs. Pioneered by the speaker, state-wide routine SCID screening is based on the detection of T-cell receptor excision circle (TREC) by PCR in dried blood spots. Different cutoff values are established for full term and premature newborns, and abnormal results from the screen are further evaluated by confirmatory tests. The utility of applying next generation sequencing as part of cystic fibrosis screening is also discussed.

Lecture Presenter
Mei Baker, MD, FACMG
Mei Baker, MD, FACMG
Associate Professor, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health
Co-Director, Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene

Dr. Mei Baker is the co-director of the Newborn Screening laboratory at Wisconsin State Laboratory of Hygiene. She is also an associate professor of pediatrics at the University of Wisconsin School of Medicine and Public Health. Dr Baker received her MD at the Department of Medicine, Anhui Medical University, China, and completed her fellowship in Clinical Biochemical Genetics at the University of Wisconsin -Waisman Center. Dr Baker is board-certified in Biochemical Genetics, American Board of Medical Genetics.

Objectives

After this presentation, participants will be able to:

Become familiar with SCID and the molecular test method to screen for SCID.
Understand the strengths and limitations of screening tests, and the role of confirmatory testing.
Review the role of advanced molecular testing in the screening of cystic fibrosis.