Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Trial Aims to Advance Prenatal Diagnosis of Genetic Defects

Published: Thursday, August 22, 2013
Last Updated: Thursday, August 22, 2013
Bookmark and Share
High-risk pregnant women being recruited for research on chromosomal abnormalities and incidence of birth defects, developmental delays.

Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) found prenatally through microarray analysis. The goal of the study is to gain further information on genetic variances previously not well reported in the medical literature and share it with parents during pregnancy.

Led by principal investigator Ronald J. Wapner, MD, professor and vice chair for research at CUMC’s Department of Obstetrics and Gynecology and director of reproductive genetics at NewYork-Presbyterian Hospital/Columbia, the research is the next phase of a project to advance clinicians’ ability to diagnose in utero conditions such as developmental delays, structural abnormalities, and treatable or life-threatening diseases.

“Parents of children found to have a genetic variance want a better understanding of what it means. Our goal is to give them as much information and support as possible—from detailed genetic counseling to ways to connect with other people expecting children with the same variance,” said Dr. Wapner.

In December 2012, Dr. Wapner and colleagues published in the New England Journal of Medicine (NEJM) findings of a trial involving 4,400 patients at 29 centers nationwide. That study showed that microarray analysis of a fetus’s DNA gave significantly more clinically relevant information than the standard method of analysis, known as karyotyping—a visual analysis of the fetus’s chromosomes.

In the current study—which has ongoing clinical recruitment—data on babies included in the NEJM article will be augmented by data on patients recruited by 10 major prenatal diagnostic centers around the country that offer microarray to all their patients. Each center aims to recruit 1,000 patients. Of the anticipated 10,000 or so microarray analyses, the researchers aim to follow 300–600 children born with genetic variances, for at least three years.

“While the majority of abnormalities found with microarray are associated with known conditions, in many cases the full implications of findings are not well understood, and about 1.5 percent are unidentified. The goal is to fill in these knowledge gaps,” said Dr. Wapner.

“When we counsel parents now, we can give them only limited information, drawn from what we know about children who have undergone genetic testing. But these children often represent the severe end of the spectrum,” said Dr. Wapner. “There might be people who, because they had no symptoms, were never identified as having a variance, limiting the prognostic information we are able to give parents.”

NewYork-Presbyterian/Columbia is the primary recruitment center. The other centers participating in the study are: the Center for Fetal Medicine, Northwestern University, Cedars Sinai Medical Center, San Francisco Perinatal, Carnegie Hill Imaging, Montefiore Medical Center, Mount Sinai Medical Center, Lenox Hill, and North Shore LIJ.

A majority of the labs in the country that do prenatal microarray have agreed to refer patients to the website, where they will be able to self-enroll in the study. “We hope to capture almost all the available microarray data,” said Dr. Wapner.

Website to Collect, Share Information in Real Time with Parents, Clinicians

Trial data will be collected and shared in real time with parents and clinicians via the website www.prenatalarray.org, where expectant parents undergoing testing can learn how microarray works and what it looks for; parents of a child with a variance can find information about their baby’s variance and connect with other parents of babies with the same variance; and physicians, genetic counselors, and other clinicians can input and research real-time information on the clinical impact of the variance.

“We will link genetic anomalies with structural abnormalities—connecting the genotype (the genetics, or errors) with the phenotype (what you see),” said Dr. Wapner. “This will help us to better understand the basis of birth defects—things that run together, what genes to look for, and so on.”

Software to better categorize ultrasound findings and relate them to the phenotype is provided by a genetics software-as-a-service company called Cartagenia, a collaborator on this work. As medical science continues to advance, Dr. Wapner and his colleagues hope and expect that this data pool (and web tracking system) will continue to improve genetic surveillance.

A web-based portal designed and hosted by David Ledbetter, PhD, and W. Andrew Faucett, MS, collaborators at Geisinger Health System in Danville, Pa., enables secure two-way communication with patients. This allows researchers to conduct surveys about patients’ attitudes and opinions about testing; it can also help them to understand how the patients dealt with learning that their child has a genetic variance.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More Than 5,000+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Detecting Alzheimer's with a Smell Test
Odour identification test may offer low-cost alternative for predicting cognitive decline and detecting early-stage Alzheimer’s disease.
Thursday, July 28, 2016
Contagious Cancers Are Spreading in Shellfish
Direct transmission of cancer among some marine animals may be more common than once thought, suggests a new study published in Nature by researchers at Columbia University Medical Center (CUMC).
Tuesday, June 28, 2016
Contagious Cancers Are Spreading in Shellfish
Direct transmission of cancer among some marine animals may be more common than once thought, suggests a new study published in Nature by researchers at Columbia University Medical Center (CUMC).
Tuesday, June 28, 2016
New Neurodevelopmental Syndrome Identified
Study pinpoints underlying genetic mutations, raising hopes for targeted therapies.
Friday, April 22, 2016
Major Complication of Parkinson’s Therapy Explained
Researchers have discovered why long-term use of ¬¬¬L-DOPA (levodopa), the most effective treatment for Parkinson’s disease, commonly leads to a movement problem called dyskinesia, a side effect that can be as debilitating as Parkinson’s disease itself.
Monday, September 14, 2015
An Innovative Algorithm to Decipher How Drugs Work Inside the Body
Researchers at Columbia University Medical Center (CUMC) have developed a computer algorithm that is helping scientists see how drugs produce pharmacological effects inside the body.
Friday, July 24, 2015
Neurons Controlling Appetite Made from Skin Cells
Cells provide individualized model for studying obesity and testing treatments.
Monday, March 02, 2015
Bone Stem Cells Shown To Regenerate Bone And Cartilage In Adult Mice
Cells could be exploited to treat osteoarthritis and osteoporosis.
Monday, January 19, 2015
Non-Gluten Proteins as Targets of Immune Response to Wheat in Celiac Disease
The results were reported online in the Journal of Proteome Research.
Thursday, December 18, 2014
Human Stem Cells Converted to Functional Lung Cells
Possibility of generating lung tissue for transplant using a patient’s own cells.
Thursday, December 05, 2013
New Link Between Obesity and Diabetes Found
Targeting a single enzyme that raises both sugar and insulin levels in the obese could prevent and treat diabetes.
Monday, November 25, 2013
Human Stem Cells Elucidate Mechanisms of Beta-Cell Failure in Diabetes
Mechanisms that impair insulin production in diabetes identified using a human stem cell model of Wolfram syndrome, a rare form of diabetes.
Thursday, November 14, 2013
Researchers Discover Cells that Restore Bladder’s Unique Lining
Finding that could lead to new ways to treat chronic bladder pain or to produce new tissue for patients with damaged bladders.
Tuesday, September 24, 2013
Is There a Role for Vitamins in Cancer Prevention?
According to recent national surveys, approximately 40 percent of U.S. adults take multivitamins/multiminerals.
Monday, August 12, 2013
DNA Robots Find and Tag Blood Cells
Researchers have created a fleet of molecular “robots” that can home in on specific human cells and mark them for drug therapy or destruction.
Thursday, August 08, 2013
Scientific News
Mass Spec Technology Drives Innovation Across the Biopharma Workflow
With greater resolving power, analytical speed, and accuracy, new mass spectrometry technology and techniques are infiltrating the biopharmaceuticals workflow.
One Step Closer to Precision Medicine for Chronic Lung Disease Sufferers
A study led by University of North Carolina at Chapel Hill, and National Jewish Health, has provided evidence of links between SNPs and known COPD blood protein biomarkers.
A Diversity of Genomes
New DNA from understudied groups reveals modern genetic variation, ancient population shifts.
“Sixth Sense” May Be More Than Just A Feeling
The NIH Study shows that two young patients with a mutation in the PIEZ02 have problems with touch and proprioception, or body awareness.
Gene Could Reduce Female Mosquitoes
Virginia Tech researchers have found a gene that can reduce female mosquitoes over many generations.
Biomolecular Manufacturing ‘On-the-Go’
Wyss Institute team unveils a low-cost, portable method to manufacture biomolecules for a wide range of vaccines, other therapies as well as diagnostics.
Improving Crop Efficiency with CRISPR
New study of CRISPR-Cas9 technology from Virginia Tech shows potential to improve crop efficiency.
Fighting Cancer with Sticky Nanoparticles
Treatment that uses bioadhesive nanoparticles drug carriers proved more effective than conventional treatments for certain cancers.
Stem Cell ‘Heart Patch’ Almost Perfected
Scientists aiming to perfect and test 3D "heart patches" in animal model, last hurdle before human patients.
Fighting Plant Pathogens with RNA
Researchers develop strategy that could lead to environmentally friendly fungicide to fight pathogens.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,000+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!