Presentation October 16th 2018

Newborn screening for severe combined immunodeficiency in Japan


Severe combined immunodeficiency (SCID) is a life-threatening disease characterized by a disturbed development of T and B cells. SCID can be screened by measuring T-cell receptor excision circles (TRECs), a marker of normal T lymphopoiesis. Newborn screening (NBS) for SCID has already been initiated in several countries to save 1 in 60,000 newborns carrying this disease. 

We designed and initiated a community-based study to test the feasibility of NBS for SCID from April 2017 in Aichi Prefecture. Eighty-nine hospitals participated in this study, accounting for 37.3% of newborns in this region. TRECs were measured using PCR-based amplification and detection of DNA derived from dried blood spots. We chose a conservative cut-off value of 30 copies/μL. Beta-actin levels were measured as an internal quality control. 

In the initial year a total of 22,865 infants were enrolled in this study. They account for 65.6% of all births in participating hospitals and suggesting the acceptability of this test by parents. The median TREC copy number was 136 (range: 0–2,330) copies/μL. Fifty (0.22%) infants showed a low TREC copy number, which was below the cut-off value. 

These infants were referred for flow cytometric analysis and comprehensive genetic analysis for primary immunodeficiencies. Non-SCID T cell lymphopenia are found in 9 infants. Among these, One is DiGeorge syndrome with severe lymphopenia. He received prophylaxis for infection. Others are Down syndrome, gastrointestinal anomalies, and chylothorax. 
This is the first large-scale NBS for SCID in Japan through which we would be able to confirm the feasibility of NBS for SCID in our country.

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