Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing
Bennett O. V. Shum, Carel Pretorius, Ilya Henner, Emre Basar, Urs Wilgen, Glenn Bennett, Jacobus P. J. Ungerer · 2026
Read Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing by Bennett O. V. Shum, Carel Pretorius, Ilya Henner, Emre Basar, Urs Wilgen, Glenn Bennett, Jacobus P. J. Ungerer (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13511433.txt.
Description
Bennett O. V. Shum and six co-authors test gene sequencing as the first step of newborn screening for three rare diseases, in 2026 work. Current heel-prick screening for severe combined immune deficiency and cystic fibrosis flags many healthy babies, sending families into anxious follow-up. The team ran targeted sequencing on 3025 newborns alongside the standard tests for those two diseases plus spinal muscular atrophy.
Sequencing found one baby with cystic fibrosis whom the standard test had missed, and it caught the spinal condition case the standard panel found. It produced zero false alarms across all three diseases. Standard screening, by contrast, produced roughly nine false alarms for each true case found. The authors say swapping in sequencing could cut false positives sharply and may raise detection for cystic fibrosis, though a larger trial must settle accuracy and cost.
Catalog record
| CREATOR | Bennett O. V. Shum, Carel Pretorius, Ilya Henner, Emre Basar, Urs Wilgen, Glenn Bennett, Jacobus P. J. Ungerer |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 35301 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |