Navigation Links
Noninvasive Test May Identify Down Syndrome Early On

By Steven Reinberg
HealthDay Reporter

SUNDAY, March 6 (HealthDay News) -- A simple blood test may one day offer a safe way to detect Down syndrome during pregnancy, researchers say.

In a small study, an experimental blood test identified a gene mutation associated with Down syndrome with 100 percent accuracy, according to the Cyprus scientists.

"Down syndrome is a common birth defect, with one Down syndrome birth in every 600 births in all populations," said lead researcher Philippos Patsalis, chief executive medical director of the Cyprus Institute of Neurology and Genetics in Nicosia. "This is due to an extra chromosome 21, and that leads to physical and mental impairment."

"With our method we identify all normal and all Down syndrome [pregnancies]," Patsalis said.

Currently, Down syndrome is diagnosed using one of two invasive procedures, amniocentesis or chorionic villus sampling. Because these tests, while 80 percent accurate, carry a 1 percent to 2 percent risk of miscarriage, only about one in 10 pregnant women opts for them, he said.

The new test eliminates the risk of miscarriage, Patsalis said.

It also can identify Down syndrome in the 11th week of pregnancy, early enough for a woman to end her pregnancy if she chooses, Patsalis said.

Although Down syndrome varies in severity, it usually causes some intellectual impairment and distinguishing facial features. Heart defects and other health problems are also common, according to the March of Dimes. Older mothers are more likely to give birth to Down syndrome babies.

People with Down syndrome, also known as Trisomy 21, carry three copies of chromosome 21, instead of two.

For the study, published online March 6 in Nature Medicine, Patsalis and his colleagues took blood samples from pregnant women and mothers of Down syndrome and healthy babies. In each case, the test quickly pinpointed the chromosomal variation, identifying 14 Down syndrome cases and 26 normal fetuses, the study authors said.

If larger clinical trials confirm the results, the test could become standard practice, Patsalis said. "The cost is much lower than the invasive procedures," he said. "We estimate we can introduce this to clinical practice in a couple of years."

Dr. Brian Skotko, clinical fellow in genetics at Children's Hospital Boston and a spokesman for the National Down Syndrome Society, said this study has widespread implications for the incidence of Down syndrome.

With this new test, women will know if their baby has Down syndrome even before they look pregnant, Skotko said. "So they will be able to make a very personal decision without anyone realizing it," he said.

Noting that most of his Down syndrome patients say they lead fulfilling lives, Skotko said, "The overwhelming majority of family members say they can't imagine their life without their family member with Down syndrome."

More information

For more information on Down syndrome, visit the U.S. National Library of Medicine.

SOURCES: Philippos Patsalis, Ph.D., chief executive medical director, The Cyprus Institute of Neurology and Genetics, Nicosia; Brian Skotko, M.D., clinical fellow in genetics, Children's Hospital Boston, spokesman, National Down Syndrome Society; March 6, 2011, Nature Medicine, online

Copyright©2010 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. New research shows innovative respiratory stress test can quickly detect significant coronary artery disease in a noninvasive setting
2. Noninvasive combination technique may reduce number of breast biopsies
3. Prediction tool helps estimate local recurrence in patients with noninvasive breast cancer
4. Noninvasive Test for Colon Cancer Shows Promise in Early Trial
5. Noninvasive brain stimulation helps improve motor function in stroke patients
6. Noninvasive Glaucoma Test Might Speed Up Detection
7. Noninvasive test for trisomy 21 closer at hand
8. UNT Health Science Centers Roby Helps Identify Bodies of Chiles Patio 29
9. Scientists identify microRNA as possible cause of chemotherapy resistance
10. University of Michigan scientists identify chemical in bananas as potent inhibitor of HIV infection
11. Study to Identify Infants at High Risk for Developing Obesity
Post Your Comments:
Related Image:
Noninvasive Test May Identify Down Syndrome  Early On
(Date:11/26/2015)... ... November 26, 2015 , ... ... mental health and wellness consultation, has collaborated with Women’s Web – an ... reader’s queries on topics on mental and emotional well-being relationship, life balance, ...
(Date:11/25/2015)... OAK BROOK, Ill. (PRWEB) , ... November 25, ... ... sometimes larger and potentially more aggressive than those found on mammography, according to ... cases MRI findings of additional cancers not seen on mammography may necessitate a ...
(Date:11/25/2015)... ... November 25, 2015 , ... ... the perfect dish and pleasing the palates of attendees is of the utmost ... dish to a seasonal get-together, give these recipes a try this holiday season. ...
(Date:11/25/2015)... ... November 25, 2015 , ... Medical Solutions, one of the ... stellar workplace culture with the company’s Cincinnati office being named a finalist among ... was named a finalist in Cincinnati Business Courier’s 13th annual Greater Cincinnati Best ...
(Date:11/25/2015)... ... November 25, 2015 , ... Dr. John Pierce, Medical ... more about hair loss treatment with the Capillus272™ Pro laser therapy cap. FDA cleared ... thicker and fuller hair, without the need for surgery, prescription pills, or topical foams. ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... November 26, 2015 ... adds "Global Repaglinide Industry ... Report on China Repaglinide Market, 2010-2019" ... data and information to its online ... . --> ...
(Date:11/26/2015)... , Nov. 26, 2015 Research and ... of the "2016 Future Horizons and Growth ... Market: Supplier Shares, Country Segment Forecasts, Competitive Intelligence, ... --> --> ... of the Italian therapeutic drug monitoring market, including ...
(Date:11/26/2015)... DUBLIN , November 26, 2015 ... has announced the addition of the  ... in the European Cell Surface Marker ... Emerging Opportunities"  report to their offering.  ... announced the addition of the  "2016 ...
Breaking Medicine Technology: