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
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 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.


  1. I remember our OB asking if we wanted to test for Down's, and the only reason she gave us was that some people would want to know early if they were to end the pregnancy. I was horrified because this was a Catholic run practice.

  2. That is awful! It is sad that this would be the reasoning at a Catholic run practice. We have a long ways to go in regards to changing this culture. I think one way that patients can help is to go to physicians (when possible) who are authentically Catholic and avoid the others. Sometimes we can only speak with our feet. Unfortunately, there are many limitations such as insurance and availability.

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