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Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts

Thursday, July 01, 2010

New Prenatal Testing: Search and Destroy Mission or Advancement in Science?

A recent article announced the the promising advancements of using maternal blood to test for fetal genetic anomalies.  The premise is that there is a very small amount of fetal DNA that passes into the mother's blood stream.  This DNA is not fully degraded, and if the proper techniques are used, it could theoretically be isolated and amplified in order to be tested for genetic anomalies such as mutations or aneuploidies.  This technology is very challenging to master.  I worked in a lab for a year that was pursuing this very technique.  During that time, I continued to struggle with the ethical nature of this research.  I was blessed that in the particular lab the research was performed within the paradigm of advancing the good of both mother AND child.  In this light, I was able to reconcile my work with my ethical standards because I knew that the basic research that I was performing had the potential of helping eliminate the risks of the current screening tests. Moreover, it could theoretically lead to the potential for treatment and cures, following in the footsteps of Dr. Jerome Lejune.  However, not all research done in this field follows such ethical standards.  In fact, as posted before, much of this research and testing is simply to promote the search and destroy missions against any 'imperfect' child.  Here is the story from FoxNews:

Cheap Blood Test Could Detect Disorders in Fetus


A simple blood test may one day become a safer alternative for checking if an unborn baby has Down syndrome or other disorders, the Daily Telegraph reported.
The test, which takes a blood sample from a pregnant woman to examine the DNA of the fetus, would cost as little as $36, and could be available within four years, according to the report.
It would provide an inexpensive and much less invasive way to detect many genetic abnormalities in fetuses, but it also raises concerns among pro-life advocates who say it could result in more abortions.
“If it might more conclusively prevent false positives, it might have some benefit, but it will also likely lead to more abortions of children with disabilities,” Mailee Smith, staff counsel for Americans United for Life, told FoxNews.com.
The tests currently used to determine if an unborn child has Down syndrome are both quite invasive. One is an amniocentesis, where doctors extract amniotic fluid from around the fetus. The other is a procedure known as chorionic villus sampling, which involves the removal of a small piece of placenta tissue. Researchers hope the new test will become a safer alternative to the current procedures, which are highly accurate, but raise the mother’s risk of suffering a miscarriage.
"The age is swiftly coming where not all possible technologic advances may bring welcomed change. Parents who have children with Down syndrome have already found much richness in life with an extra chromosome," Skotko wrote in an article published in the BMJ in October 2009.Dr. Brian Skotko, a physician at the Children's Hospital Boston who is on the board of directors of the National Down Syndrome Society, told FoxNews.com that many doctors aren't adequately trained to counsel women on having children with Down syndrome, and worse, some who diagnose an expecting couple's child with Down syndrome encourage them to terminate the pregnancy.
Dr. Suzanna Frints, of Maastricht University Medical Center in the Netherlands, began the ongoing research with her team in 2009, and claims that their technique is 80 percent reliable. Her team has proven their technique works by using the mother’s blood to identify the Y chromosome from the fetus.
Twenty-one women who have either had abortions or underwent amniocentesis, or other prenatal screening procedure, have participated in the research. But to establish the accuracy of the test, Frints said the next phase of development would need to involve more women.
Frints described the results as “promising,” and hopes that their technique will be able to screen for other abnormalities, like muscular dystrophy, hemophilia, Edwards syndrome and Patau syndrome.
“When we succeed in developing the procedure for use in maternal blood, we will be able to offer a safe, cheap, fast, reliable and accurate non-invasive test, which will be of immediate benefit to pregnant women, young and old, all over the world,” Frints said.
Professor Stephen Robson, spokesman for the Royal College of Obstetrics and Gynecology, considers a non-invasive test for detecting Down syndrome the “holy grail” and said there was an ''enormous research effort’’ behind it.
Down syndrome is a genetic abnormality that affects around 1 in 800 babies born in the U.S., and is the most common genetic cause of severe learning disability.

Here is an excellent commentary on the story from Wesley J. Smith:

A new test is in the works that will allow Down fetuses to be detected without the risks of current screening.  From the story:
A quick inexpensive blood test for Down’s syndrome that could save the lives of hundreds of unborn babies each year is being developed by scientists.  The ‘holy grail’ of diagnosis, it would pick up signs of the disease from a few drops of the mother’s blood. The test could save lives by removing the risk of miscarriage associated with current tests…Dr Frints, of Maastricht University Medical Centre in the Netherlands, has already created a kit that can work out if the baby is a boy or a girl. She is adapting the kit to test for Down’s syndrome and other genetic conditions could follow. Around 25,000 British women a year have invasive tests for Down’s syndrome, so the test has the potential to save 250 lives annually.
The statement in the story really meant “save the lives of normal babies.” These tests are intended as a search and destroy mission,  to find and promote eradication of Down fetuses.  The babies miscarried now as a result of invasive testing might be called collateral damage in the larger eugenic drive.
I am certainly in favor of preventing those miscarriages.  And, of course, some families will use the information provided to prepare themselves and family for the arrival of a child with a disability, as did the Palins (for which some will never forgive them).  But the latter benefit isn’t the primary point of the test and certainly not why the medical establishment promotes universal pre-natal testing so enthusiastically.  Frankly, they are not satisfied with a 90% termination rate.
But isn’t it ironic–that we will save some “good” babies, in order to find a better way to identify others to terminate.   If babies of color were being similarly targeted it would be called racism.

As future physicians and current physicians, we need to work hard to shape the culture so that we are able to promote research to alleviate the negative impact of genetic anomalies.  We have the obligation to fully inform our patients of the use and impact of these tests and encourage them to use the knowledge in such a way as to promote the sanctity of life.

Wednesday, May 05, 2010

A Story of Trisomy 18

Below is an excerpt from an heart touching piece.  Rick Santorum shares with us a story of the power of love:
'Incompatible with life." The doctor's words kept echoing in my head as I held my sobbing wife, Karen, just four days after the birth of our eighth child, Isabella Maria.
Bella was born with three No. 18 chromosomes, rather than the normal two. The statistics were heartbreaking: About 90 percent of children with the disorder, known as trisomy 18, die before or during birth, and 90 percent of those who survive die within the first year.
Bella was baptized that day, and then we spent every waking hour at her bedside, giving her a lifetime's worth of love and care. However, not only did she not die; she came home in just 10 days.
She was sent home on hospice care, strange as that sounded for a newborn. The hospice doctor visited us the next day and described in graphic detail how Bella would die. In sum, she could die at any time without warning, and the best we could hope for was that she would die of the common cold.
Karen and I discontinued hospice so that we and our amazing doctors, James Baugh and Sunil Kapoor, could get to work focusing on Bella's health, not her death.
Like so many moms of special kids, Karen is a warrior, caring for Bella night and day and, at times, fighting with health-care providers and our insurance company to get our daughter the care she needs.
Being the parent of a special child gives one exceptional insight into the negative perception of the disabled among many medical professionals, particularly when they see your child as having an intellectual disability. Sadly, we discovered that not only did we have to search for doctors who had experience with trisomy 18. We also had to search for those who saw Bella not as a fatal diagnosis, but as a wanted and loved daughter and sister, as well as a beautiful gift from God.

Read the rest here.



Tuesday, March 09, 2010

Prenatal Testing- The continuation of the Eugenics movement

In the arena of prenatal care, there is one topic that perhaps is not discussed enough.  Prenatal screening has major ethical ramifications, typically ignored by many individuals in medicine.  Any tests performed, whether it is ultrasound or genetic, are not immoral in and of themselves, but rather the moral issue arises in what we do with the information obtained.  Given the information, there are three possible uses for it:
1) The parents use that information to prepare themselves for a child with a specific condition.  This may include spiritual and emotional preparation, as well as lining up the proper care once the child is born.
2) The doctors may be able to use the information to treat the child in utero.  With advances in microsurgery, there are cases of spina bifida being treated at an early age to increase the child's survival and quality of life.
3) The last option is the final option.  Abortion.  The information obtained can be used to make a decision as to whether to kill the child or not.

It is this last option that is the most common and most horrific.  Take for instance Down's Syndrome.  A recent BMJ article states "Around 92% of women who received an antenatal diagnosis of Down’s syndrome decided to terminate the pregnancy, and this proportion was constant throughout the period covered by the register."  For many of us, this may be something we were already aware of.  Yet, it is still horrific.  Down's Syndrome is not a death sentence, rather there are many individuals who are able to live happy and productive lives.  If any of you have had the blessing to know or work with an individual with Down's, you know that they are some of the most innocent and friendly individuals you may encounter.   So the question is, why are 9 out of 10 fetuses diagnosed with Down's terminated?  The answer: Eugenics.

Our society despises imperfection, at least, what they perceive to be imperfection.  This is especially true in regards to children.  Every family wants the 'perfect' child, and so any indication of disease, whether present or potential,  raises the specter of termination.  For many diseases, termination of a pregnancy is considered acceptable medical practice, and in many instances, is encouraged by physicians.  What does this say about those individuals in society who live with these diseases or disabilities?  What are we telling them when we are willing to kill off other people like them in the womb?  In my own opinion, this would seem to show a devaluing of their dignity and integrity.  We are telling them they are something less and don't deserve to live and the fact that they are alive is a mistake. 

When we are willing to kill off the 'imperfect' child, we are practicing eugenics, plain and simple. 

What are your thoughts?