Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

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

10.11.2005


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 http://www.MFMF.org.

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:
http://www.MFMF.org
http://www.columbia.edu

More articles from Health and Medicine:

nachricht Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center

nachricht Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital

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: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Rainbow colors reveal cell history: Uncovering β-cell heterogeneity

22.09.2017 | Life Sciences

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>