Featured Research

from universities, journals, and other organizations

Non-invasive first trimester blood test reliably detects Down's syndrome and other genetic fetal abnormalities

Date:
June 7, 2013
Source:
Wiley
Summary:
New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. The results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing.

New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing.

Related Articles


Current screening for Down's syndrome, or trisomy 21, and other trisomy conditions includes a combined test done between the 11th and 13th weeks of pregnancy, which involves an ultrasound screen and a hormonal analysis of the pregnant woman's blood. Only chorionic villus sampling and amniocentesis can definitely detect or rule out fetal genetic abnormalities, but these are invasive to the pregnancy and carry a risk of miscarriage.

Several studies have shown that non-invasive prenatal diagnosis for trisomy syndromes using fetal cell free (cf) DNA from a pregnant woman's blood is highly sensitive and specific, making it a potentially reliable alternative that can be done earlier in pregnancy.

An Ultrasound in Obstetrics & Gynecology study by Kypros Nicolaides, MD, of the Harris Birthright Research Centre for Fetal Medicine at King's College London in England, and his colleagues is the first to prospectively demonstrate the feasibility of routine screening for trisomies 21, 18, and 13 by cfDNA testing. Testing done in 1005 pregnancies at 10 weeks had a lower false positive rate and higher sensitivity for fetal trisomy than the combined test done at 12 weeks. Both cfDNA and combined testing detected all trisomies, but the estimated false-positive rates were 0.1% and 3.4%, respectively.

"This study has shown that the main advantage of cfDNA testing, compared with the combined test, is the substantial reduction in false positive rate. Another major advantage of cfDNA testing is the reporting of results as very high or very low risk, which makes it easier for parents to decide in favor of or against invasive testing," the authors wrote.

A second Ultrasound in Obstetrics & Gynecology study by the group, which included pregnancies undergoing screening at three UK hospitals between March 2006 and May 2012, found that effective first-trimester screening for Down's syndrome could be achieved by cfDNA testing contingent on the results of the combined test done at 11 to 13 weeks. The strategy detected 98% of cases, and invasive testing was needed for confirmation in less than 0.5% of cases.

"Screening for trisomy 21 by cfDNA testing contingent on the results of an expanded combined test would retain the advantages of the current method of screening, but with a simultaneous major increase in detection rate and decrease in the rate of invasive testing," the authors concluded.


Story Source:

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


Journal References:

  1. M. M. Gil, M. S. Quezada, B. Bregant, M. Ferraro, K. H. Nicolaides. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound in Obstetrics & Gynecology, 2013; DOI: 10.1002/uog.12504
  2. K. H. Nicolaides, D. Wright, L. C. Poon, A. Syngelaki, M. Gil. First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound in Obstetrics & Gynecology, 2013; DOI: 10.1002/uog.12511

Cite This Page:

Wiley. "Non-invasive first trimester blood test reliably detects Down's syndrome and other genetic fetal abnormalities." ScienceDaily. ScienceDaily, 7 June 2013. <www.sciencedaily.com/releases/2013/06/130607085203.htm>.
Wiley. (2013, June 7). Non-invasive first trimester blood test reliably detects Down's syndrome and other genetic fetal abnormalities. ScienceDaily. Retrieved February 28, 2015 from www.sciencedaily.com/releases/2013/06/130607085203.htm
Wiley. "Non-invasive first trimester blood test reliably detects Down's syndrome and other genetic fetal abnormalities." ScienceDaily. www.sciencedaily.com/releases/2013/06/130607085203.htm (accessed February 28, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, February 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com
The Best Tips to Makeover Your Health

The Best Tips to Makeover Your Health

Buzz60 (Feb. 27, 2015) If you&apos;re looking to boost your health this season, there are a few quick and easy steps to prompt you for success. Krystin Goodwin (@Krystingoodwin) has the best tips to give your health a makeover this spring! Video provided by Buzz60
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