Featured Research

from universities, journals, and other organizations

Mayo Clinic Researcher Calls For Improved Newborn Screening

Date:
March 11, 2005
Source:
Mayo Clinic
Summary:
A Mayo Clinic physician and researcher has reported that a combination of the latest technology and double-tiered analysis could improve genetic screening for newborns as much as forty-fold, while testing for dozens more diseases than is now performed in some states.

Feb. 21, 2005 -- A Mayo Clinic physician and researcher today reported that a combination of the latest technology and double-tiered analysis could improve genetic screening for newborns as much as forty-fold, while testing for dozens more diseases than is now performed in some states.

Related Articles


Pediatric geneticist Piero Rinaldo, M.D., Ph.D., presented the findings at the annual meeting of the American Association for the Advancement of Science (AAAS) in Washington, D.C.

Dr. Rinaldo said that tandem mass spectrometry – a multiplex platform available to screen for upwards of 40 potentially life-threatening genetic diseases – is not in use in many states. The inconsistent use of existing technology at the state level means that children born in some states will not be diagnosed until it is too late, Dr. Rinaldo explained. In nearly all cases, immediate treatment for recognized genetic diseases can improve or cure infants' conditions. If undiagnosed in the first few days after birth, some conditions can kill or cause irreversible brain damage.

In addition to unresolved issues of lack of uniformity and fairness, Dr. Rinaldo addressed the problem of inconsistent performance at the analytical level leading to significant variability in quality parameters, for example false positive rate and positive predictive value. He argued that better performance could be achieved by the addition of second-tier analyses. These are biochemical and/or molecular confirmatory tests performed on the same blood spot collected at birth. The advantage of testing the specimen already available, instead of requesting a repeat collection or a blood sample, is to prevent the anxiety and stress that families would experience until the initial screening results on their infants are shown to be false.

Dr. Rinaldo told conference attendees that Mayo Clinic cooperated with the Minnesota Department of Health to develop a secondary analysis of the false positives that all but eliminated the problem for one particular condition, congenital adrenal hyperplasia. Compared to a relatively low false positive rate of just under half of one percent in 2003, the secondary screen lowered the false positive percentage to six-hundredths of one percent (0.06%) in the last half of 2004. He says the system not only improves the value of screenings, but can make them more cost effective.

He also reported that in the near future screening programs are likely to be further expanded to include testing beyond the newborn period for additional diseases such as Wilson's disease, which causes copper to build in vital organs such as the brain and liver, and congenital disorders of glycosylation, a fast growing group of newly discovered inborn errors of metabolism.

Dr. Rinaldo's remarks were part of a symposium entitled "The Future of Newborn Screening: Science, Policy and Technology," organized by researchers from the National Institute of Childhood Diseases and the University of Miami School of Medicine.


Story Source:

The above story is based on materials provided by Mayo Clinic. Note: Materials may be edited for content and length.


Cite This Page:

Mayo Clinic. "Mayo Clinic Researcher Calls For Improved Newborn Screening." ScienceDaily. ScienceDaily, 11 March 2005. <www.sciencedaily.com/releases/2005/02/050224111110.htm>.
Mayo Clinic. (2005, March 11). Mayo Clinic Researcher Calls For Improved Newborn Screening. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2005/02/050224111110.htm
Mayo Clinic. "Mayo Clinic Researcher Calls For Improved Newborn Screening." ScienceDaily. www.sciencedaily.com/releases/2005/02/050224111110.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Breakfast Debate: To Eat Or Not To Eat?

Breakfast Debate: To Eat Or Not To Eat?

Newsy (Oct. 23, 2014) Conflicting studies published in the same week re-ignited the debate over whether we should be eating breakfast. Video provided by Newsy
Powered by NewsLook.com
Ebola Fears Keep Guinea Hospitals Empty

Ebola Fears Keep Guinea Hospitals Empty

AP (Oct. 23, 2014) Fears of Ebola are keeping doctors and patients alike away from hospitals in the West African nation of Guinea. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Despite Rising Death Toll, Many Survive Ebola

Despite Rising Death Toll, Many Survive Ebola

AP (Oct. 23, 2014) The family of a Dallas nurse infected with Ebola in the US says doctors can no longer detect the virus in her. Despite the mounting death toll in West Africa, there are survivors there too. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) Is your child ready? Video provided by Working Mother
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins