Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


New screening test proves earlier, more accurate predictor for Down syndrome


Columbia-led study of more than 38,000 women enables faster, first trimester prenatal testing for leading cause of mental retardation and birth defects

A new study from Columbia University Medical Center researchers at NewYork-Presbyterian Hospital/Columbia of more than 38,000 pregnant women at 15 U.S. centers demonstrates the high accuracy of non-invasive screening for Down syndrome (also known as trisomy 21) in the first trimester of pregnancy, at 11 weeks. The findings are a significant advantage over the current standard screening, a blood test performed in the second trimester of pregnancy.

"These results will undoubtedly change national practice – all pregnant women should have the option of early screening for Down syndrome in their first trimester," said Mary E. D’Alton, M.D., principal investigator of the study. She is Chair of the Department of Obstetrics and Gynecology at Columbia University College of Physicians and Surgeons, and Chief of Obstetrics and Gynecology at NewYork-Presbyterian Hospital/Columbia. "Down syndrome screenings based on either maternal age alone, or an ultrasound or sonogram alone, are no longer justified protocols."

Published this week in the New England Journal of Medicine (Nov. 10, 2005 issue), the study is known as the FASTER trial (First and Second Trimester Evaluation of Risk). It was funded by a $13 million grant from the National Institutes of Health and the National Institute of Child Health and Human Development – one of the largest ever grants for an obstetrical study.

The new screening approach uses a blood test that analyzes the level of a protein and hormone in the mother’s blood, combined with an ultrasound or sonogram picture of the thickness of skin on the back of the baby’s neck (known as the nuchal translucency or NT). Results are available within five days, often before starting the second trimester of pregnancy. This combination approach determines the odds that the baby might have Down syndrome, allowing pregnant women the option of prenatal diagnosis for Down syndrome and other chromosomal abnormalities within the first trimester or pregnancy. The researchers found higher detection – 87 percent – in the first trimester compared to the best second trimester screening method – 81 percent detection. Results with this new combination screening approach in the first trimester are a significant advantage over the current standard screening test.

First-trimester screening was performed on 38,167 patients; 117 were found to have a fetus with Down syndrome. If a positive result was found via screening, the woman was given the option to have the finding confirmed with a diagnostic exam: chorionic villus sampling (CVS) or amniocentesis. Both tests carry risks of complication leading to miscarriage.

Down syndrome is one of the leading causes of mental retardation and birth defects, found in one in 660 pregnancies. Persons with this condition have distinct physical features and commonly have certain birth defects and medical problems. Any woman can have a baby with Down syndrome, regardless of her age, race, health, economic status or family history. For this reason, most pregnant women undergo testing to determine their potential to have a baby with this syndrome.

Dr. D’Alton and the research team believe that the new screening method should only be administered by qualified, trained physicians. Dr. D’Alton and other experts working with the Society of Maternal Fetal Medicine have recently formed the Maternal Fetal Medicine Foundation to facilitate physician training and quality review for the screening. So far 1,600 physicians and sonographers nationwide have undergone training, and more are scheduled. Information about the training and quality review program can be found at

Women seeking this early screening should seek healthcare professionals with appropriate ultrasound training and who participate in ongoing quality monitoring programs. Programs should provide sufficient information and resources for counseling regarding the different screening options and limitations of these tests. Additionally, the services should provide access to an appropriate diagnostic test when the screening test is positive.

"This study was a wonderfully collaborative effort between researchers, including four leading Obstetrics and Gynecology centers in New York City. This incredible achievement would not have been possible without the hard work of the 15 centers that comprised the FASTER Research Consortium and the 38,167 women who participated in this clinical trial," said Dr. D’Alton.

Elizabeth Streich | EurekAlert!
Further information:

More articles from Health and Medicine:

nachricht Advanced analysis of brain structure shape may track progression to Alzheimer's disease
26.10.2016 | Massachusetts General Hospital

nachricht Indian roadside refuse fires produce toxic rainbow
26.10.2016 | Duke University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Novel light sources made of 2D materials

Physicists from the University of Würzburg have designed a light source that emits photon pairs. Two-photon sources are particularly well suited for tap-proof data encryption. The experiment's key ingredients: a semiconductor crystal and some sticky tape.

So-called monolayers are at the heart of the research activities. These "super materials" (as the prestigious science magazine "Nature" puts it) have been...

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Prototype device for measuring graphene-based electromagnetic radiation created

28.10.2016 | Power and Electrical Engineering

Gamma ray camera offers new view on ultra-high energy electrons in plasma

28.10.2016 | Physics and Astronomy

When fat cells change their colour

28.10.2016 | Life Sciences

More VideoLinks >>>