Navigation Links
Documenting women's experiences with chromosome abnormalities found in new prenatal test

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.


Contact: Karen Kreeger
University of Pennsylvania School of Medicine

Related medicine news :

1. Source of conflict: Study finds factors that can shape divorced mothers co-parenting experiences
2. Are women with a history of violent experiences more likely to have risky sex?
3. Mutations impair childhood growth and development by disrupting organization of chromosome pairs
4. Warwick scientists uncover how checkpoint proteins bind chromosomes
5. Brain Scans of Hoarders Show Unique Abnormalities
6. Gene Mutation Linked to Facial, Skull Abnormalities
7. Genome-wide analysis shows previously undetected abnormalities in parents of affected children
8. Treatment of childhood OSA reverses brain abnormalities
9. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
10. Insecticide Linked to Brain Abnormalities in Kids
11. Epilepsy Leads to More Brain Abnormalities Over Time
Post Your Comments:
(Date:11/25/2015)... ... November 25, 2015 , ... Beddit® has launched a ... sleep tracking systems. The new app features a more intuitive SleepScore™ that rates sleep ... well you slept. The SleepScore is created by a proprietary algorithm. Beddit analyzes the ...
(Date:11/25/2015)... ... November 25, 2015 , ... “While riding the bus, ... from Bronx, N.Y. “I thought there had to be a convenient and comfortable way ... , The PROTECTOR enables disabled individuals to safely travel during cold or inclement weather. ...
(Date:11/25/2015)... Md (PRWEB) , ... November 25, 2015 , ... ... Hypertension Association (PHA) announces the nation’s Periwinkle Pioneers, individuals and groups responsible for ... of this disease. The Periwinkle Pioneers, nominated by the public, will receive special ...
(Date:11/25/2015)... ... November 25, 2015 , ... An unlikely ... resulting in a way for homeless people to have a more dignified and ... new initiative whereby they are repurposing plastic bags into sleeping mats for the ...
(Date:11/25/2015)... ... November 25, 2015 , ... ... on providing comprehensive solutions involving adult stem cell therapies to patients with chronic ... the “Regenestem” name as a Registered Trademark (RTM). , Organizations are required to ...
Breaking Medicine News(10 mins):
(Date:11/25/2015)... , Nov. 25, 2015 Allergan plc ... company, and Rugen Therapeutics, a start-up  biotechnology company ... unmet CNS disorders and funded by the F-Prime ... have entered into an exclusive collaboration to support ... Autism Spectrum Disorders (ASD) and Obsessive Compulsive disorders ...
(Date:11/25/2015)... NEW YORK , November 25, 2015 ... global market of self-monitoring blood glucose devices was valued ... to grow with a CAGR of 5.7% during 2015 ... increasing geriatric population and increasing prevalence of diabetes. In ... about diabetes care is also contributing to the growth ...
(Date:11/25/2015)... November 25, 2015 Developmental, commercial, ... boosting the profitability of pharmaceutical products, says GBI ... and regulatory/legal strategies all play a key role ... GBI Research . --> Developmental, ... key role in boosting the profitability of pharmaceutical products, ...
Breaking Medicine Technology: