Navigation Links
Data show a decline in cystic fibrosis since introduction of prenatal carrier screening
Date:2/27/2008

A brief report in the February 28, 2008, New England Journal of Medicine, led by researchers at the New England Newborn Screening Program (NENSP) of the University of Massachusetts Medical School (UMMS), indicates a declining incidence of a genetic disease, providing what may be the first demonstration of a link between two independent population-based screening programs.

The state of Massachusetts has offered universal newborn screening to detect cystic fibrosis (CF) since 1999. Independently, recommendations for nationwide (adult) carrier screening for CF were introduced in the U.S. around 2002, coming from the National Institutes of Health, the American College of Obstetrics and Gynecology and the American College of Medical Genetics. Newborn screening for cystic fibrosis (much like newborn screening for other conditions), a public health service geared toward improving the lives of babies born with treatable conditions, identifies infants across the state who are at risk for disease and ensures that these infants are referred for diagnostic evaluation and (when appropriate) care. Tracking the number of infants who are diagnosed with the disease is an integral part of quality assurance of the newborn screening program.

Using the Massachusetts newborn screening data, the researchers compared two four-year periods: 1999 to 2002, just before prenatal CF carrier screening came into wide practice, and 2003 to 2006.

The number of live-born infants with CF dropped by about 50 percent from one four-year period to the next. Moreover, among the babies who were born with CF, markedly fewer had two copies of the delta F508 gene mutation, associated with a severe form of CF. The authors, who work closely with the clinician directors of the five Massachusetts CF Centers at Baystate Medical Center in Springfield; Childrens Hospital Boston; Massachusetts General Hospital; New England Medical Center; UMass Memorial Health Care in Worcester; and UMMS, are confident that the decrease is realnot an aberration of the screening program and not a normal fluctuation.

Clinical researchers have understood that a major challenge of CF newborn screening is developing treatments to maintain the health of relatively asymptomatic newborns. Our recent observations that fewer infants are being born with CFparticularly fewer infants with a severe genotypeprovides an additional challenge to researchers developing new treatments or using population data for trend analyses, says Anne Comeau, PhD, associate professor of pediatrics at the University of Massachusetts Medical School and deputy director of the NENSP. We should not fool ourselves into thinking that our treatments are working better than they are if the treatment may be tested on a population that was already bound to be more healthy.

The authors hypothesize that the gradual implementation of the recommendation to offer preconception and prenatal screening in order to identify carriers of CF might have yielded a decrease in the number of births of infants with CF, particularly the type that causes the most severe disease.

Our data cannot distinguish the reason for the reported decrease, notes Richard Parad, MD, MPH, a newborn medicine specialist at Childrens Hospital Boston and Brigham and Womens Hospital, who co-authored the study with Jaime Hale of NENSP and Comeau. Carrier couples may have chosen not to conceive, or they may have resorted to donor egg or sperm or to pre-implantation genetic diagnosis, or they may have decided to terminate affected pregnancies.

CF affects all races, and is the most common autosomal recessively inherited disorder in Caucasians (about 1/3000 births). Fifty years ago, most children with CF died before they reached school age, but today, with early diagnosis and improved treatment, the median survival is 36 years.


'/>"/>

Contact: Mark Shelton
mark.shelton@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

Related biology technology :

1. Entry of Biogenerics and Decreasing Use of Amgens Epogen and Johnson & Johnsons Procrit Will Cause a $2.8 Billion Decline in the Drug Market for Chemotherapy-Induced Anemia by 2016
2. BioMarin Licenses Technology From Leading Cystic Fibrosis Research Laboratory at the University of California, San Francisco
3. GeneGo and the Cystic Fibrosis Foundation Collaborate to Advance Understanding of Cystic Fibrosis
4. PTC Therapeutics Announces Encouraging Additional Phase 2 Results of PTC124 in Cystic Fibrosis
5. Cystic Fibrosis: License Agreement Boosts Development of Therapy Against Lung Infections
6. Medical Breakthrough ... Doctor Discovers Penetrating Carrier That Eradicates Fungus
7. NeoMatrix Announces Additional Funding for Breakthrough Breast Cancer Screening Test
8. BioReliance Launches Next-Generation Genotoxicity Screening Service
9. Diamics Receives European CE Mark Approval for Its Pap-Map(TM) System for Cervical Cancer Screening
10. Enigma Diagnostics to Develop Clinical Diagnostics Platform for UK National Chlamydia Screening Programme
11. Swiss Experts Recommend QuantiFERON(R)-TB Gold for Tuberculosis Infection Screening Prior to Initiating anti-TNF-a Therapy
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/16/2017)... , Aug. 16, 2017  Kingfisher Talent, the ... leadership development, and Virdis Group, global executive search specialists in ... that enables clients to leverage the expertise and reach of ... clients here in the Boston biotech ... of leadership talent throughout the US, Canada ...
(Date:8/15/2017)... (PRWEB) , ... August 15, 2017 , ... Kapstone ... celebrating 10 years of successes helping medical technology companies and inventors develop and safeguard ... a renowned full-service national engineering firm with a portfolio of clients in the United ...
(Date:8/15/2017)... PA (PRWEB) , ... August 15, 2017 , ... ... one of the largest Asian exhibitions for analytical and scientific instruments. This year’s ... will be “New Approaches in Mass Spectrometry for Bioanalytical Applications.” This dynamic presentation ...
(Date:8/15/2017)... Kenosha, Wisconsin (PRWEB) , ... August 15, 2017 ... ... introduced a new family of 6” modular downlights designed to stay tightly sealed ... applications, including areas where damp and wet location listings just aren't enough, such ...
Breaking Biology Technology:
(Date:4/13/2017)... UBM,s Advanced Design and Manufacturing event in ... and evolving technology through its 3D Printing and Smart ... the expo portion of the event and feature a ... on trending topics within 3D printing and smart manufacturing. ... will take place June 13-15, 2017 at the Jacob K. ...
(Date:4/11/2017)... April 11, 2017 Crossmatch®, a globally-recognized ... solutions, today announced that it has been awarded ... Projects Activity (IARPA) to develop next-generation Presentation Attack ... "Innovation has been a driving force within ... will allow us to innovate and develop new ...
(Date:4/11/2017)... 11, 2017 No two people are ... the New York University Tandon School of Engineering ... found that partial similarities between prints are common ... mobile phones and other electronic devices can be ... vulnerability lies in the fact that fingerprint-based authentication ...
Breaking Biology News(10 mins):