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

New Test Offers More Information on Genetic Causes of Stillbirth

Published: Friday, December 07, 2012
Last Updated: Friday, December 07, 2012
Bookmark and Share
NIH network study confirms more detailed information from microarray analysis.

A more precise method for examining a fetus' genetic material may help detect abnormalities in 40 percent more cases of stillbirth than does the traditional method, according to a National Institutes of Health network study.

A stillbirth (http://www.nichd.nih.gov/health/topics/Stillbirth.cfm) occurs when a baby dies in the womb prior to delivery at or after 20 weeks of gestation. In the United States, stillbirth occurs in 1 of every 160 births.

When pregnancy ends in stillbirth, doctors may attempt to examine the baby's chromosomes with a technique known as a karyotype (http://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=85192).

The karyotype is an image of an individual's chromosomes and is used to look for an abnormal number of chromosomes or for abnormally shaped chromosomes.

However, karyotyping requires cells to be grown in culture, which is often not possible in a stillbirth. So the researchers sought a technique that would be more reliable.

The researchers compared the results of karyotypes from more than 500 stillbirths to results from microarray analysis, a genetic method which detects small segments of missing parts of chromosomes (deletions) or additional sections of genetic material (duplications) that cannot be seen by karyotype.

"Previous studies suggest that 25 to 60 percent of stillbirths are unexplained," said the article's first author, Uma Reddy, M.D., of the Pregnancy and Perinatology Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the NIH institute leading the research. "Microarray may explain genetic causes of stillbirths that previously were not identifiable by karyotype."

The research was coordinated through the Stillbirth Collaborative Research Network (SCRN), supported by the NICHD.

Dr. Reddy collaborated with 17 co-authors from the NICHD, RTI International, Research Triangle Park, N.C.; University of Texas Medical Branch at Galveston; University of Utah and Intermountain Health Care, Salt Lake City; Brown University, Providence, R.I.; Emory University and Children's Health Care of Atlanta; University of Texas Health Science Center at San Antonio; and Columbia University Medical Center, New York City.

Their findings appear in the New England Journal of Medicine.

The SCRN researchers analyzed samples from all stillbirths in a population-based study in five areas, covered by 59 hospitals over a period of 2.5 years.

Shortly after each stillbirth, parents gave research staff permission to collect blood from the umbilical cord and tissue from the fetus and the placenta.

Researchers obtained results from 70 percent of the karyotype tests that were performed, with 30 percent failing to yield any results.

Of those from which results were obtained, 8.3 percent had an extra chromosome, a missing chromosome, or other major chromosome alterations.

By comparison, microarray analysis provided results in 87 percent of stillbirths tested, a significantly higher yield than with karyotyping. For the most part, the microarray results confirmed the results of the karyotype analysis.

However, microarray analysis detected genetic abnormalities in 6 percent of cases in which the karyotype analysis returned no result and in 3 percent of those with normal karyotype results - a total of 18 stillbirths.

Of the 44 stillbirths with genetic abnormalities detected through microarray analysis, 41 percent had a normal karyotype or a result was not obtained. Microarray analysis yielded a 41.9 percent increase in the detection rate (8.3 percent vs. 5.8 percent).

Stillbirths in which a major birth defect was apparent were significantly more likely than stillbirths without a birth defect to have genetic abnormalities.

Microarray analysis detected more abnormalities (29.9 percent) than did karyotype analysis (19.4 percent) in stillbirths with a major birth defect - a 53.8 percent increase in the detection rate.

The authors noted that in some cases, the microarray analysis revealed genetic abnormalities carried by the parents. These genetic abnormalities had no apparent effect on the parents' health but could potentially increase the risk for another stillbirth or for certain health conditions in future offspring. Knowledge of these genetic abnormalities would allow for improved management of future pregnancies, the authors noted.

"The primary benefit of using microarray analysis rather than karyotype analysis is the greater likelihood of obtaining results," said Dr. Reddy. "However, microarray analysis is more expensive than karyotyping. Microarray analysis is especially useful in stillbirth cases in which the karyotype has failed or there is a birth defect present."

The microarray analysis also revealed genetic variations that have not previously been classified as either harmless or disease-causing. Future research is needed to determine if these variations are related to stillbirth, Dr. Reddy explained.

In the same issue of the New England Journal of Medicine, researchers in an NICHD-supported research study compared karyotyping to microarray analysis as a method of prenatal diagnosis.

That study was led by Ronald J. Wapner, M.D., of Columbia University Medical Center. The researchers concluded that microarray analysis revealed genetic conditions in 2.5 percent of pregnancies with a normal karyotype.


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 3,200+ scientific posters on ePosters
  • More Than 4,800+ 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

Connectome Map More Than Doubles Human Cortex’s Known Regions
Researchers at NIH have developed software that automatically detects the “fingerprint” of each of these areas in an individual’s brain scans.
Saturday, July 23, 2016
Uncovering a New Principle in Chemotherapy Resistance in Breast Cancer
The NIH study has revealed an entirely unexpected process for acquiring drug resistance that bypasses the need to re-establish DNA damage repair in breast cancers that have mutant BRCA1 or BRCA2 genes.
Thursday, July 21, 2016
Brain Circuits Helps People Cope With Stress
Researchers at NIH have identified brain patterns in humans that appear to underlie “resilient coping,” to stress that help some people handle stressful situations better than others.
Wednesday, July 20, 2016
NIH Investment Into HIV Research Expands
Funding has been awarded to six research teams to lead collaborative investigations worldwide toward an HIV cure.
Thursday, July 14, 2016
Treatment Advancement for Gaucher and Parkinson's Diseases
NIH scientists identify molecule that may act as a possible treatment of neurological diseases.
Wednesday, July 13, 2016
Use it or Lose it: Visual Activity Regenerates Links Between Eye, Brain
The mouse study is first to show visual stimulation helps re-wire visual system and partially restores sight.
Tuesday, July 12, 2016
NIH Funds Million-Person Medicine Study
NIH announces $55million in awards to build foundations for ambitious Cohort Program that aims to engage 1 million participants in lifestyle, environments and genetics research.
Friday, July 08, 2016
Largest-Ever Study of Breast Cancer Genetics in Black Women
The study will identify genetic factors that may underlie breast cancer disparities.
Thursday, July 07, 2016
NIH-Funded Center to Study Inefficiencies in Clinical Trials
Researchers at the Duke Clinical Research Institute (DCRI) and Vanderbilt University Medical Center (VUMC) have received a major federal grant to study how multisite clinical trials of new drugs and therapies in children and adults can be conducted more rapidly and efficiently.
Thursday, July 07, 2016
NIH Funds Zika Virus Study Involving U.S. Olympic Team
Researchers will monitor potential Zika virus exposure among a subset of athletes traveling to Brazil.
Wednesday, July 06, 2016
PREVAIL Treatment Trial for Men with Persistent Ebola Viral RNA
The six-month study will enroll 60 to 120 EVD survivors.
Wednesday, July 06, 2016
Implementation Science Approaches to Reduce Mother-to-Child HIV Transmission
The NIH study will investigate best practices to ease major disease burden in Sub-Saharan Africa.
Friday, July 01, 2016
Significant Expansion Of Data Available In The Genomic Data Commons
Cancer genomic profile information from 18,000 adult cancer patients will be added to the database.
Wednesday, June 29, 2016
Some Women With PCOS May Have Adrenal Disorder
Researchers at NIH have found that a subgroup of women with PCOS, a leading cause of infertility, may produce excess adrenal hormones.
Tuesday, June 28, 2016
Manufactured Stem Cells To Advance Clinical Research
Clinical-grade cell line will enable development of new therapies and accelerate early-stage clinical research.
Tuesday, June 28, 2016
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Connectome Map More Than Doubles Human Cortex’s Known Regions
Researchers at NIH have developed software that automatically detects the “fingerprint” of each of these areas in an individual’s brain scans.
Discovered Through ‘Big Data’ Analysis
Researchers at the SBP have identified over 100 new genetic regions that affect the immune response to cancer.
Human Stem Cells to Rapidly Generate Bone, Heart Muscle
A new study shows that combining positive and negative signals can quickly and efficiently steer stem cells down complex developmental pathways to become specialized tissues that could be used in the clinic.
New Mechanism of Tuberculosis Infection
Researchers at UTSW Medical Center have identified a new way that tuberculosis bacteria get into the body, revealing a potential therapeutic angle to explore.
New Therapeutic Targets For Small Cell Lung Cancer Identified
Researchers at UTSW Medical Center have identified a protein termed ASCL1 that is essential to the development of small cell lung cancer and that, when deleted in the lungs of mice, prevents the cancer from forming.
Eliminating Doubt in Criminal Investigations
New ASU certificate to help curb error, misunderstanding in the quest for justice.
Determination of 13 Organic Toxicants in Human Blood
Researchers have utilised liquid-liquid extraction coupling HPLC-MS/MS to identify and quantify organic toxicants in human blood.
A Novel Cell Culture Model For Forensic Biology Experiments
Researchers have developed a new cell culture model which provides an efficient research tool in forensic biology.
Rhino DNA Bank Aids Anti-Poaching Fight
At the University of Pretoria's Veterinary Genetics Laboratory (VGL) at Onderstepoort, Dr Cindy Harper and her team have developed a ground-breaking technique to collect and catalogue DNA from rhinos and rhino horns.
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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!