JAMA Network Home
Sign In
Research Letter

Identification of an Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia

JAMA Network Open 10.1001/jamanetworkopen.2025.30551

September 05, 2025 at 11:00 AM EDT

Read the full article

This cross-sectional study estimates the prevalence of an variant identified in Puerto Rico in an effort to evaluate the feasibility of targeted newborn screening for primary ciliary dyskinesia (PCD).

Corresponding Author: Wilfredo De Jesús-Rojas, MD, Ponce Health Sciences University, Sala Ponce, 388 Calle Luis F, Ponce, 00716, Ponce, Puerto Rico (wdejesusmd@psm.edu).

Link to the article in your story

We encourage you to link out to this article in your story using the link below. It includes an access token that will give free access to the article for your readers up to one year after publication. (The link will be live after the article publishes and embargo is lifted.)

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/10.1001/jamanetworkopen.2025.30551?utm_source=for_the_media&utm_medium=referral&utm_campaign=ftm_links&utm_term=090525

Copy to clipboard

Please see the article for additional information, including full author list, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

Need more information? Contact us.

Editor's Picks