What is lost in prenatal testing

As many of you know the American College of Obstetricians and Gynecologists (ACOG) has recently recommended that all pregnant women get testing that would indicate whether their baby has Down Syndrome.  Previously, the recommendation was for pregnant women over 35 who, because of maternal age, had a greater chance of having a baby with trisomy 21, the cause of Down Syndrome.

There are many problems with this recommendation.  First, from a simple clinical standpoint, the initial screen is not a diagnostic genetic test and has a significant failure rate.  The idea is that mothers will undergo the non-invasive screen and then if the screen is positive for problems, then chorionic villus sampling (CVS) or amniocentesis is done where the genetic test for trisomy 21 is performed.  I am concerned that many mothers may just stop at the screen, for fear of getting too far along, and abort a child that does not have Down Syndrome. 

That may seem like an unfounded concern, but I know that many health professionals are grossly uninformed about genetic tests and are overly zealous about offering abortion as a "solution" for a Down syndrome baby.  Patricia Bauer, a mother of a Down Syndrome child, has written a great piece called "What's Lost in Prenatal Testing" where she points out this very fact:

Nowhere in the fine print of the ACOG recommendations are these misconceptions or the advances of recent years recognized. Perhaps this is not surprising: OB-GYNs concern themselves primarily with mothers and well babies, not people with intellectual disabilities. But it's frightening, too, when you consider the millions of lives affected by their guidance, explicit or otherwise.

Federally funded research has found that physicians have lower expectations for people with intellectual disabilities than do other professionals. Some 81 percent of medical students polled by Special Olympics in 2005 said that they are "not getting any clinical training" about people with intellectual disabilities. The Hastings Center found that 80 percent of genetics professionals polled said they personally would terminate a pregnancy involving Down syndrome. These are the people advising pregnant women in the harried days when the clock is ticking.

Ms. Bauer hopes that increased education for mothers and health professionals about people with disabilities will accompany the new recommendation, but I highly doubt that will happen.  The medical community has already embraced abortion as a "medical treatment" for such cases and that will most definitely continue.

Secondly, it used to be that a population screen was only recommended when a treatment was available.  This means that doctors would only recommend testing for the whole population (in this case all pregnant women) when a preventative treatment was available that could cure a disease or prevent a disorder from getting worse.  In the pregnancy/birth arena, think PKU newborn testing or testing mothers for group B strep.

There is no treatment for Down Syndrome.  So why would doctors recommend a population screen?  It could be to help prepare all women who are carrying a Down Syndrome baby to accept and love their child.  But considering that close to 90% of all Down syndrome babies are aborted, I think it is a recommendation to make sure that abortion is an option for all women who are found to be carrying a Down Syndrome baby.  This a disturbing trend that will continue to get worse.

Which leads me to eugenics, the logical end to this recommendation.  Many people think eugenics, the idea that there are "good genes" that need to be passed on and "bad genes" that need to be eradicated, is only eugenics when it is state-sponsored.  They think eugenics is only bad (or truly eugenics) if the government forces it upon us.  I disagree. Eugenics is eugenics regardless of where the pressure is coming from.  There is now a huge pressure from society not to have a "defective child."  I do not have a child with a genetic disorder (at least that we know of yet...) but my niece has Beckwith-Wiedemanns syndrome and I know the sentiment that her parents have felt by ignorant elitists who, in their heart-of-hearts, think she should have never been born.

Patricia Bauer also knows:

She was a fresh-faced young woman with a couple of adorable kids, whiling away an hour in the sandbox at the park near my home. So was I, or so I thought. New in town, I had come to the park in hopes of finding some friends for myself and my little ones.

Her eyes flicked over to where my daughter sat, shovel gripped in a tiny fist, and then traveled quickly away. The remark that followed was directed to the woman next to her, but her voice carried clearly across the playground. "Isn't it a shame," she said, an eyebrow cocked in Margaret's direction, "that everyone doesn't get amnio?"

This attitude is more pervasive than you may think.  Working in a genetics field, I see it all the time and I find it more and more disturbing.  I have overheard many "enlightened" and "compassionate" co-workers comment on families with genetic causes of mental retardation, "Isn't always the one that are defective that have the most children..."

So what is lost in prenatal testing?  If done for the right reasons, nothing should be lost in prenatal testing.  It should be a great medical tool to treat and cure disease.  But it isn't being done for the right reasons and society is losing because of it.  Bauer writes:

I understand that some people very much want this, but I have to ask: Why? Among the reasons, I believe, is a fundamental societal misperception that the lives of people with intellectual disabilities have no value -- that less able somehow equates to less worthy. Like the woman in the park, we're assigning one trait more importance than all the others and making critical decisions based on that judgment.

In so doing, we're causing a broad social effect. We're embarking on the elimination of an entire class of people who have a history of oppression, discrimination and exclusion.