Navigation Links
Trial aims to advance prenatal diagnosis of genetic defects
Date:8/21/2013

NEW YORK (August 21, 2013) 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 possiblefrom 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 karyotypinga visual analysis of the fetus's chromosomes. [Click here for a news release about that study.]

In the current studywhich has ongoing clinical recruitmentdata 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 300600 children born with genetic variances, for at least three years. (See below for more about microarray.)

"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. "Ours is the only study of its kind that is identifying genetic variances in utero and following the kids over time to see how the abnormalities present and to gather as much clinical information about them as possible, such as the severity of problems and life expectancy."

"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 http://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 abnormalitiesconnecting 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 defectsthings 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.

More About Microarray

Microarray requires fetal cells obtained through an invasive procedure (offered to high-risk pregnant women), such as amniocentesis, in which fetal cells are taken from the amniotic fluid, or chorionic villus sampling, in which cells are taken from the placenta. Pregnant women are deemed high risk if they have advanced maternal age (age 35 or older) or if their fetuses are shown through early screening to be at increased risk for Down syndrome, to have structural abnormalities (as seen with ultrasound), or to have indications of other problems. Parents deciding whether to undergo these tests must weigh a number of factors, including their individual risk of fetal abnormalities, possible procedure-induced miscarriage, and the consequences of having an affected child.

Wendy Chung, MD, PhD, associate professor of pediatrics (in medicine) at Columbia University Medical Center and director of clinical genetics at NewYork-Presbyterian/Columbia, is supervising the evaluation of the children.

The data are being housed at the George Washington University data center. Researchers at the University of Pennsylvania are leading the counseling and psycho-social portions of the study.


'/>"/>

Contact: Elizabeth Streich
eas2125@cumc.columbia.edu
212-305-3689
Columbia University Medical Center
Source:Eurekalert

Related biology news :

1. Ultrasound patch heals venous ulcers in human trial
2. UCLA stem cell gene therapy for sickle cell disease advances toward clinical trials
3. New sickle cell anemia therapy advances to Phase II clinical trials
4. Alios BioPharma initiates Phase 1 clinical trial for respiratory syncytial virus infection
5. Intermountain Medical Center reseachers develop new 3-D technology to treat atrial fibrillation
6. Elseviers Maturitas publishes clinical guide on endometrial assessment in postmenopausal women
7. Ecology, economy and management of an agro-industrial Amazon frontier
8. FDA approves Phase II of stem cell trial for ALS led by U-Ms Dr. Eva Feldman
9. A trial to find out the effectiveness of biocides against Vespa velutina
10. Sea level rise: Jeopardy for terrestrial biodiversity on islands
11. Mummy CT scans show preindustrial hunter gatherers had clogged arteries
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/25/2016)... BLUE BELL, Pa. , Jan. 25, 2016   Unisys ... facial recognition system at John F. Kennedy (JFK) International Airport, ... and Border Protection (CBP) identify imposters attempting to enter ... or do not belong to them. pilot testing ... rolled out initially at three terminals at JFK during January 2016. ...
(Date:1/20/2016)... , Jan. 20, 2016 A market that ... directly benefit from the explosion in genomics knowledge. Learn ... Sound Research. A range of dynamic trends are pushing ... - personalized medicine - pharmacogenomics - pathogen evolution - ... large markets - greater understanding of the role of ...
(Date:1/13/2016)... 2016 --> ... market report titled - Biometric Sensors Market - Global Industry ... 2023. According to the report, the global biometric sensors market was valued ... reach US$1,625.8 mn by 2023, expanding at a CAGR ... volume, the biometric sensors market is expected to reach ...
Breaking Biology News(10 mins):
(Date:2/6/2016)... ... February 06, 2016 , ... The Center for Excellence in Education (CEE) ... school teachers on Wednesday February 10, 2016. This Bite of Science session, hosted ... Conservation, located at 1500 Remount Road in Front Royal, VA from 5:00 p.m. to ...
(Date:2/5/2016)... , Feb. 5, 2016 On Thursday, February ... information source for community, health and disaster services, and ... will integrate to enhance care coordination and service delivery ... services they need and to better connect service providers ... San Diego has handled ...
(Date:2/4/2016)... LEXINGTON, Massachusetts , February 4, 2016 - New ... --> - New FDA action date of July ... date of July 22, 2016   - ... the U.S. in the past decade indicated for the treatment of signs and ... Lifitegrast has the potential to be the only product approved in the ...
(Date:2/4/2016)... SHENZHEN, China , Feb. 4, 2016 ... government, and various medical institutions attended a ceremony in ... provide integrative, personalized cell therapy in 2016. ... the "Shenzhen Clinical Translation Platform for Personalized Cell Therapy" ... Shenzhen Regional Cell Production Center, both subsidiaries of Beike ...
Breaking Biology Technology: