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Updated: Jul 17, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Newborn sequencing is only part of the solution for better child health
Luca Brunelli1, Heeju Sohn2, Amy Brower3
1Division of Neonatology, Department of Pediatrics, Spencer Fox Eccles School of Medicine, University of Utah, and Primary Children's Hospital, Intermountain Health, Salt Lake City, UT, United States.
Abstract:
Newborn screening (NBS) aims to detect newborns with severe congenital diseases before the onset of clinical manifestations. Advancements in genomic technologies have led to proposals for the development of genomic-based NBS (G-NBS) in concert with traditional NBS. Proponents of G-NBS highlight how G-NBS could expand the number of diseases screened at birth to thousands and spur the development of new drugs and treatments for rare diseases. Balancing the excitement, some experts have pointed to the ethical dilemmas linked to G-NBS. The dialog, however, has yet to engage with sufficient urgency on how the new G-NBS might chart a course for improving the health of all children. Our analysis of more than 130 million births in the United States between 1959 and 1995 shows that traditional NBS led to improvements in infant mortality and health equity only when it was implemented in association with measures to improve healthcare access for children. We suggest that the new G-NBS will lead to better child health only when the same degree of attention devoted to genomic technologies will be directed to the promotion of public health measures that facilitate access to high-quality healthcare for all children.
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