Neonatology Providers Need Education About Cystic Fibrosis Newborn Screening Algorithms.

Int J Neonatal Screen

Division of Pulmonary and Sleep Medicine, The Hub for Clinical Collaboration, Children's Hospital of Philadelphia, 3500 Civic Center Blvd., Philadelphia, PA 19104, USA.

Published: July 2025


Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

An essential link in the cystic fibrosis (CF) newborn screening (NBS) process is communication of results. While this is described between NBS programs and primary care providers, data of this occurrence is limited with neonatologists. Neonatology providers represent a group caring for critically ill infants with conditions that can impact their ability to complete diagnostic testing after an abnormal NBS. Delays in testing can prolong time to diagnosis. We fielded a survey to assess neonatology provider knowledge and awareness of the Pennsylvania state CF NBS algorithm after an update occurred. Provider demographics, awareness of CF NBS update, and knowledge of the diagnostic testing process were measured. 86% of respondents were unaware of Pennsylvania CF NBS updates. Provider comfort with interpreting CF NBS results varied. 40% of providers identified the next diagnostic testing steps for a critically ill infant following an abnormal CF NBS. Our survey emphasizes the need for educating neonatology providers about CF NBS to improve knowledge and awareness of CF NBS algorithms to facilitate the early diagnosis of affected infants.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286156PMC
http://dx.doi.org/10.3390/ijns11030054DOI Listing

Publication Analysis

Top Keywords

neonatology providers
12
diagnostic testing
12
nbs
10
cystic fibrosis
8
fibrosis newborn
8
newborn screening
8
critically ill
8
abnormal nbs
8
knowledge awareness
8
awareness nbs
8

Similar Publications

Purpose: This study aimed to evaluate whether low-dose CT imaging using an Sn filter can provide image quality sufficient for the differential diagnosis of cranial deformities in infants while maintaining an effective dose comparable to that of conventional radiography.

Methods: We calculated the effective dose for both head X-ray imaging and low-dose CT with an Sn filter. Phantom images acquired using a CT scanner equipped with an Sn filter were evaluated for bone suture visibility at various conditions (from 10 mAs to 50 mAs, every 10 mAs) using a 4-point visual grading scale.

View Article and Find Full Text PDF

ATPase-deficient CHD7 disease variant disrupts neural development via chromatin dysregulation.

J Genet Genomics

September 2025

Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China; Sh

Chromodomain helicase DNA binding protein 7 (CHD7), an ATP-dependent chromatin remodeler, plays versatile roles in neurodevelopment. However, the functional significance of its ATPase/nucleosome remodeling activity remains incompletely understood. Here, we generate genetically engineered mouse embryonic stem cell lines harboring either an inducible Chd7 knockout or an ATPase-deficient missense variant identified in individuals with CHD7-related disorders.

View Article and Find Full Text PDF

Brain Tumor Segmentation (BTS) is crucial for accurate diagnosis and treatment planning, but existing CNN and Transformer-based methods often struggle with feature fusion and limited training data. While recent large-scale vision models like Segment Anything Model (SAM) and CLIP offer potential, SAM is trained on natural images, lacking medical domain knowledge, and its decoder struggles with accurate tumor segmentation. To address these challenges, we propose the Medical SAM-Clip Grafting Network (MSCG), which introduces a novel SC-grafting module.

View Article and Find Full Text PDF

Retinopathy of prematurity (ROP) is a retinal disease characterized by abnormal vascular proliferation, primarily associated with premature delivery and low birth weight. Advances in perinatal and neonatal care have increased survival rates but have also contributed to a rising incidence of ROP, necessitating regular ROP screening. However, the screening procedure, which involves an eyelid speculum and ophthalmoscope, frequently induces pain.

View Article and Find Full Text PDF

Tuberculosis (TB) remains a global health challenge, with around 10 million new cases reported annually and multidrug-resistant strains complicating control efforts. Although incidence has declined in many high-income regions, neonatal populations remain vulnerable, underscoring the continued role of Bacillus Calmette-Guérin (BCG) vaccination. BCG vaccination provides strong protection against severe forms of TB in infancy, though its efficacy against pulmonary disease in adolescents and adults is modest.

View Article and Find Full Text PDF