Spotting cystic fibrosis: test welcomed, but payment raises concerns

Ken Ortolon1

  • 1ken.ortolon@texmed.org

Texas Medicine
|January 14, 2010
PubMed

Insights

Texas is expanding newborn screening to include cystic fibrosis, potentially improving health outcomes for nearly 100 children annually. This addition increases the total number of screened genetic disorders to 28.

Area of Science:

  • Medical Genetics
  • Neonatal Screening
  • Public Health

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Early detection of CF through newborn screening enables timely intervention.
  • Texas currently screens for 27 genetic disorders in newborns.

Purpose of the Study:

  • To announce the inclusion of cystic fibrosis screening in the Texas newborn screening program.
  • To highlight the potential public health benefits of expanded screening.

Main Methods:

  • Implementation of newborn screening for cystic fibrosis by the Texas Department of State Health Services.
  • Expansion of the existing newborn screening panel.

Main Results:

  • Nearly 100 Texas children annually are expected to benefit from early cystic fibrosis detection.
  • The number of screened genetic disorders in Texas will increase to 28.

Conclusions:

  • The expanded newborn screening program in Texas is anticipated to enhance the health and well-being of infants diagnosed with cystic fibrosis.
  • This initiative represents a significant advancement in Texas's commitment to early detection and management of genetic disorders.

Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Ultrasound II: Endoscopic Ultrasound and FibroScan01:25

Ultrasound II: Endoscopic Ultrasound and FibroScan

Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
Pulmonary Function Tests01:25

Pulmonary Function Tests

Pulmonary Function Tests (PFTs)
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
PFTs involve using a spirometer, a...