Home  |  Top News  |  Most Popular  |  Video  |  Multimedia  |  News Feeds  |  Feedback
  Medicine  |  Nature & Earth  |  Biology  |  Technology & Engineering  |  Space & Planetary  |  Psychology  |  Physics & Chemistry  |  Economics  |  Archaeology
Top > Medicine, Health Care > Documenting Women's Experiences with Chromosome… >
Documenting Women's Experiences with Chromosome Abnormalities Found in New Prenatal Test

Published: September 21, 2012.
By University of Pennsylvania School of Medicine
http://www.uphs.upenn.edu/news/

PHILADELPHIA – We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule.

Barbara Bernhardt, MS, CGC, a genetic counselor at the Hospital of the University of Pennsylvania, and colleagues contacted a small group of women who are participating in a larger Columbia University study investigating the use of a genetic test called a DNA microarray to identify the possibility of prenatal chromosomal abnormalities. Bernhardt is also co-director of the Penn Center for the Integration of Genetic Healthcare Technologies.

The study's goal: To document a woman's experience upon learning that her child's genetic material contained chromosomal abnormalities. The women's responses to this type of news were mostly negative, ranging from saying they "needed support" after getting the results to describing the results as "toxic knowledge," that they wish they hadn't received.

DNA microarrays represent a relatively new approach to genetic testing. Classically, chromosomal abnormalities are detected with karyotyping, which uses DNA staining and microscopy to identify such large-scale abnormalities as trisomy 21, associated with Down's syndrome. Yet the technique lacks the resolution to detect smaller – yet still significant -- chromosomal changes.

That's where DNA microarrays come in. Microarrays use an array of DNA "probes" to search for matching bits of DNA from across the genome. In theory, if a piece of DNA is missing or duplicated, that change can be detected on a microarray, even if it is too small to be detected by karyotyping.

DNA microarrays are often used by physicians following birth to identify chromosomal abnormalities in children with unexplained developmental delays or congenital defects. However, the technique is also being applied prenatally. The problem, though, unlike some genetic changes that definitely lead to disease, is that the significance of the changes DNA microarrays identify (called copy-number variants) isn't always clear. Nor is it necessarily obvious what actions parents, doctors, and genetic counselors should take in light of the findings.

Bernhardt set out to document the experiences of women receiving such information. Of the 4,450 women enrolled in the Columbia University trial, Bernhardt and her team selected 54 who had received chromosome microarray results that showed abnormalities in the previous six months. Of those, they interviewed 23 regarding the subjects' recollections of their informed-consent discussions, genetic counseling, test results, and follow-up.

The team identified five "key elements" that describe the women's experiences:

"An offer too good to pass up." Many of the women accepted the offer for testing because it was offered at no cost and posed no additional risk to them or their unborn child. Yet they did so without necessarily considering the potential significance and ambiguity of the information they could receive.

"Blindsided by the results." Women reported being caught off-guard by the microarray data, which generally arrived one to two weeks after preliminary (and seemingly normal) karyotype information.

"Uncertainty and unquantifiable risks." Women had difficulty making sense of the test results, as copy-number variants are often of either uncertain clinical significance, or produce a wide array of possible developmental outcomes. As a result, the women's time-critical and emotionally charged decisions about whether to terminate a pregnancy, for instance, were complicated.

"Need for support." The women reported needing support from counselors, spouses or partners to digest and consider the information they had received and to make critical decisions regarding their pregnancies.

"Toxic knowledge." The women noted that in many cases the array results constituted "toxic knowledge" that they, in retrospect, wish they hadn't learned, because it negatively impacted their pregnancy, birth, and postnatal experiences. As Bernhardt describes it, "They watch their babies like hawks, … always waiting for the other shoe to drop."

According to Bernhardt, chromosomal microarrays pose the same ambiguities after birth as prenatally. The difference is that postnatal testing is done because the child already exhibits an unexplained abnormality, and physicians hope the test can pinpoint its cause. "But when you find [an abnormality] in a fetus it puts the woman and couple into a tailspin because they have no clue what to expect," she says. "And the couple is immediately faced with whether or not to terminate the pregnancy."

The take-home message, Bernhardt says, is that genetic counselors must be prepared to spend more time with parents to help them explore their reasons for wanting microarray testing. Counselors also need to emphasize to parents the potentially ambiguous nature of the microarray results, how to consider potential responses, and how to make the best decisions they can based on both available scientific data and the clients' beliefs.

The study, "Women's experiences receiving abnormal prenatal chromosomal microarray testing results," was published online September 6 in the journal Genetics in Medicine. Additional authors include Penn researcher Danielle Soucier; as well as Karen Hanson, Melissa Savage, and Ronald Wapner from Columbia University College of Physicians and Surgeons; and Laird Jackson, Drexel University College of Medicine.


Show Reference »


Translate this page: Chinese French German Italian Japanese Korean Portuguese Russian Spanish


 
All comments are reviewed before being posted. We cannot accept messages that refer a product, or web site.If you are looking for a response to a question please use our another feedback page.
Related »

Health 
10/25/13 
Call for World Bank to Redefine Poverty Indicator to Include the Life of the Unborn Child
By SAGE Publications
London (25 October 2013). The World Bank must define life expectancy, its key poverty indicator, as starting at the time of conception and not at the time of birth …
Variant 
3/8/13 
Virus And Genes Involved in Causation of Schizophrenia
By Aarhus University
Viruses and genes interact in a way that may increase the risk of developing schizophrenia significantly. This happens already in the developing foetus. …
Women 
7/22/10 
“At the Limit of What a Person Can Bear”
By KILDEN - Information Centre for Gender Research in Norway
Most pregnant women whose foetus is proven to have a genetic abnormality choose to have an abortion, but reaching that decision is a painful, exhausting process for most of …
Acid 
4/23/12 
Coalition Petitions FDA to Fortify Corn Masa Flour with Folic Acid
By March of Dimes Foundation
Serious birth defects of the brain and spine in America's babies, particularly those of Hispanic origin, could be reduced if the nation's corn masa flour products were fortified with …
Finnell 
10/19/11 
★ 
Study Links Pollutants to a 450% Increase in Risk of Birth Defects
By University of Texas at Austin
Pesticides and pollutants are related to an alarming 450 percent increase in the risk of spina bifida and anencephaly in rural China, according to scientists at The University of …
Thalidomide 
4/20/11 
Researchers Discover Precisely How Thalidomide Causes Birth Defects
By Federation of American Societies for Experimental Biology
Thalidomide may have been withdrawn in the early 1960s for use by pregnant women, but its dramatic effects remain memorable half a century later. Now, researchers have taken a …
Analysis 
10/10/12 
Cold Cases Heat Up Through Lawrence Livermore Approach to Identifying Remains
By Lawrence Livermore National Laboratory
LIVERMORE, Calif. -- In an effort to identify the thousands of John/Jane Doe cold cases in the United States, a Lawrence Livermore National Laboratory researcher and a team of …
 
5/11/10 
British Indian Children Have Better Mental Health
By London School of Hygiene & Tropical Medicine
British Indian children have substantially better mental health than British Whites, new research from the London School of Hygiene & Tropical Medicine shows. …
More » 
 
© Newsline Group  |  About  |  Privacy Policy  |  Feedback  |  Mobile  |  Japanese Edition
All contents are copyright of their owners except U.S. Government works. U.S. Government works are assumed to be in the public domain unless otherwise noted. Everything else copyright ScienceNewsline.