• About
  • Masthead
  • License Content
  • Advertise
  • Submit Press Release
  • RSS/Email List
  • 2MM Podcast
  • Write for us
  • Contact Us
2 Minute Medicine
No Result
View All Result

No products in the cart.

SUBSCRIBE
  • Specialties
    • All Specialties, All Recent Reports
    • Cardiology
    • Chronic Disease
    • Dermatology
    • Emergency
    • Endocrinology
    • Gastroenterology
    • Imaging and Intervention
    • Infectious Disease
    • Nephrology
    • Neurology
    • Obstetrics
    • Oncology
    • Ophthalmology
    • Pediatrics
    • Pharma
    • Preclinical
    • Psychiatry
    • Public Health
    • Pulmonology
    • Rheumatology
    • Surgery
  • AI EvidencePulse™
  • Pharma
  • AI News
  • The Scan+
  • Classics™+
    • 2MM+ Online Access
    • Paperback and Ebook
  • Rewinds
  • Podcasts
  • Partners
    • License Content
    • Submit Press Release
    • Advertise with Us
  • Account
    • Subscribe
    • Sign-in
    • My account
2 Minute Medicine
  • Specialties
    • All Specialties, All Recent Reports
    • Cardiology
    • Chronic Disease
    • Dermatology
    • Emergency
    • Endocrinology
    • Gastroenterology
    • Imaging and Intervention
    • Infectious Disease
    • Nephrology
    • Neurology
    • Obstetrics
    • Oncology
    • Ophthalmology
    • Pediatrics
    • Pharma
    • Preclinical
    • Psychiatry
    • Public Health
    • Pulmonology
    • Rheumatology
    • Surgery
  • AI EvidencePulse™
  • Pharma
  • AI News
  • The Scan+
  • Classics™+
    • 2MM+ Online Access
    • Paperback and Ebook
  • Rewinds
  • Podcasts
  • Partners
    • License Content
    • Submit Press Release
    • Advertise with Us
  • Account
    • Subscribe
    • Sign-in
    • My account
SUBSCRIBE
2 Minute Medicine
Subscribe
Home All Specialties Pediatrics

California’s cystic fibrosis newborn screening model is highly effective

byPuja UmaretiyaandLeah Carr, MD
November 16, 2015
in Pediatrics, Pulmonology
Reading Time: 2 mins read
0
Share on FacebookShare on Twitter

1. This 5-year review of California’s 3-step model for newborn screening for cystic fibrosis (CF) demonstrated that it is highly sensitive and effective.

2. The median age to referral to a CF center for infants that tested positive at step 2 was 18 days, and for infants who were identified at step 3, was 37 days.

Study Rundown: CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is the most common life-limiting disease in Caucasian populations that is inherited in an autosomal recessive pattern. Every state has implemented newborn screening for CF in various forms as early intervention is known to make a substantial difference in the disease course. This study sought to evaluate the 3-step screen for CF in California. The 3-step model involves: measurement of immunoreactive trypsinogen (IRT), testing for 28 to 40 selected CFTR mutations if IRT is found to be > 62 ng/mL, and referral to a CF center for those with ≥ 2 or DNA sequencing for those with 1 mutation.  In the over 2 million newborns screened using this model from 2007 to 2012, only 28 cases of CF were missed. The model was highly sensitive. This 3-step screen is limited by the length of time it takes for complete DNA sequencing and potentially delays diagnosis of CF in infants. However, physicians can use this large study to better understand the process of CF diagnosis via newborn screening and how California has successfully tailored their newborn screen to its diverse population with high effectiveness.

Click to read the study, published today in Pediatrics

Relevant Reading: Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing

In-Depth [cross-sectional study]: A total of 2 573 293 infants underwent IRT testing from 2007 to 2012, which was a total of 98.8% of the births in California during this period. Among these infants, 40 646 (1.6%) had an IRT > 62 ng/mL and underwent testing for 28 to 40 known CFTR mutations. Of these infants, 0.5% had 2 panel mutations identified and were referred to a cystic fibrosis center. However, 38 149 (93.9%) had no panel mutations identified. The 5.7% who had 1 panel mutation identified subsequently underwent full DNA sequencing, after which 36.5% of newborns had ≥ 2 mutations identified. These infants were then referred to a cystic fibrosis center. The median age to referral to the cystic fibrosis center in infants who tested positive on the initial mutation panel was 18 days (25-75%ile: 16-20 days) compared to a median time of 37 days (25-75%ile: 31-45 days) for infants who tested positive on the DNA sequencing. The median days to diagnosis was 25 days (25-75%: 18-41 days) for panel positive infants and 148 days (25-75%ile: 60-296 days) for infants positive via sequencing. The overall sensitivity of the screen was 92% and the positive predictive value of the screen was 34%.

RELATED REPORTS

Australian couple-based genetic screening program feasible and accepted

Genomic sequencing identifies variants linked to congenital diarrhea and enteropathies

Australian couple-based genetic screening program feasible and accepted

Image: PD

©2015 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

Tags: cystic fibrosis (CF)geneticsnewborn screening
Previous Post

Antibiotic use in animals contributes to bacterial resistance in consumers

Next Post

Peripheral thermometers may inaccurately measure body temperature

RelatedReports

Parents desensitized with increasing exposure to movie violence/sex
Public Health

Australian couple-based genetic screening program feasible and accepted

August 27, 2025
Non-invasive prenatal testing linked to decreased diagnostic testing
Chronic Disease

Genomic sequencing identifies variants linked to congenital diarrhea and enteropathies

April 11, 2025
Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]
Career Development

Australian couple-based genetic screening program feasible and accepted

December 11, 2024
Chronic Disease

Cases of neurodevelopmental disorders caused by mutated lncRNA CHASERR

November 25, 2024
Next Post
Peripheral thermometers may inaccurately measure body temperature

Peripheral thermometers may inaccurately measure body temperature

Hormone levels independent of BMI with contraceptive implant

Hormone levels independent of BMI with contraceptive implant

Perioperative Aspirin may increase major bleeding in noncardiac surgery (POISE 2)

2 Minute Medicine Rewind November 9 – 15, 2015

2 Minute Medicine® is an award winning, physician-run, expert medical media company. Our content is curated, written and edited by practicing health professionals who have clinical and scientific expertise in their field of reporting. Our editorial management team is comprised of highly-trained MD physicians. Join numerous brands, companies, and hospitals who trust our licensed content.

Recent Reports

  • The Scan by 2 Minute Medicine®: FDA clears Alzheimer’s blood test, WHO warns of antibiotic resistance, New York confirms chikungunya case, and CDC layoffs raise concern
  • Twice-Daily Clopidogrel vs Ticagrelor to Reduce Short-Term Major Adverse Cardiovascular Events After Primary Percutaneous Coronary Intervention: The TADCLOT Trial
  • Work effort and time expenditure of primary care physicians
License Content
Terms of Use | Disclaimer
Cookie Policy
Privacy Statement (EU)
Disclaimer

© 2025 2 Minute Medicine, Inc. - Physician-written medical news.

  • Specialties
    • All Specialties, All Recent Reports
    • Cardiology
    • Chronic Disease
    • Dermatology
    • Emergency
    • Endocrinology
    • Gastroenterology
    • Imaging and Intervention
    • Infectious Disease
    • Nephrology
    • Neurology
    • Obstetrics
    • Oncology
    • Ophthalmology
    • Pediatrics
    • Pharma
    • Preclinical
    • Psychiatry
    • Public Health
    • Pulmonology
    • Rheumatology
    • Surgery
  • AI EvidencePulse™
  • Pharma
  • AI News
  • The Scan
  • Classics™
    • 2MM+ Online Access
    • Paperback and Ebook
  • Rewinds
  • Podcasts
  • Partners
    • License Content
    • Submit Press Release
    • Advertise with Us
  • Account
    • Subscribe
    • Sign-in
    • My account
No Result
View All Result

© 2025 2 Minute Medicine, Inc. - Physician-written medical news.