HOME >> MEDICINE >> NEWS
Mayo Clinic researcher calls for improved newborn screening

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.

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 prob
'"/>

Contact: Bob Nellis
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
21-Feb-2005


Page: 1 2

Related medicine news :

1. Mayo Clinic discovers new pathway against pancreatic cancer
2. Mayo Clinic develops first genomic-based test to predict stroke from ruptured brain aneurysm
3. Mayo Clinic study sets threshold for valve repair surgery
4. Mayo Clinic study finds obese kidney donors face few increased risks
5. Mayo Clinic identifies key cellular process in prostate and other cancers
6. Clinical breast examination offers modest benefit to breast cancer screening program
7. Mayo Clinic researchers create obedient virus; First step to use measles virus against cancer
8. Clinicians report missing patient information is common
9. Mayo Clinic discovers a key to low metabolism and major factor in obesity
10. Clinical trial of Etanercept for Wegeners disease shows no benefit
11. Mayo Clinic researchers identify new form of muscular dystrophy in adults

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:2/10/2020)... ... ... A January 26 article on Live Science reports on why ... – not unlike the skin’s response to dangerous conditions like extreme heat or cold, ... potential damage being done and warn the individual to escape the situation. Pasadena-based dental ...
(Date:2/10/2020)... (PRWEB) , ... February 10, 2020 , ... ... named vice president in the company’s healthcare division. In this role, Nikki will ... as guide the company’s continued healthcare product development. , “The healthcare industry ...
(Date:2/10/2020)... ... February 10, 2020 , ... Terry Savage , a ... president of the Society for Health Communication for 2020. Ms. Savage ... award-winning, research-driven Federal social marketing campaigns and health education programs that increase knowledge, ...
(Date:2/10/2020)... (PRWEB) , ... February 10, 2020 , ... How About That’s Sweet Trail Mix is ... That’s trail mix contains 17 grams of fat, 4 grams of protein and 3 grams ... tossed with avocado oil and sea salt, making it the cleanest keto trail mix on ...
(Date:2/10/2020)... ... February 10, 2020 , ... ... conditions across populations, today announced its founder and chief health innovator, Lucienne ... Women in Health IT . Established in 2016, the award recognizes influential women ...
Breaking Medicine News(10 mins):
(Date:2/10/2020)... ... February 10, 2020 , ... SentryHealth announced today ... onsite health clinics. Focused on leading innovation in the treatment of chronic disease, ... its onsite employee health clinics. Healthward delivers greater insight into eligibility for chronic ...
(Date:2/8/2020)... , ... February 07, 2020 , ... The first dedicated ... fanfare and national recognition. While this exciting rebrand will bring together a brick and ... to deliver the same supreme quality products they have been known for. The product ...
(Date:2/7/2020)... ... 07, 2020 , ... The Pennsylvania Department of Human Services ... a baseline of new educational regulations and standards. This has had a significant ... needs. , ABA Business Growth, a world-wide leader in training ...
Breaking Medicine Technology:
Cached News: