The Complicated World of Prenatal Testing

I read an article recently where Rick Santorum decried having pre-natal testing being provided for free under the new health care law.  He contends that it just ends up in more abortions and lessening health care costs by “culling the ranks of the disabled in our society.”

Rick Santorum has a dog in this hunt personally.  His youngest daughter has Trisomy 18, which is a pretty devastating genetic anomaly, where half of the children with it do not even survive the first week of life.  Mr. Santorum’s daughter is now three, with complicated health problems that will continue throughout her life.  It’s a tough road for the Santorum family as a whole, and dealing with a child with a complicated medical problem is tough on everyone.

It’s a decision that many people face, but one that’s becoming a more definitive choice for people to make.   The difference between the probability of having a child with a severe disability and knowing for sure if your child will have a disability is changing now that they have developed a way to do prenatal testing without endangering the child.  The choice about what to do with that information is available, earlier and earlier, and I think that’s a choice that everyone should be able to make for themselves and their families, regardless of what the politicians think about it.

Prenatal Screening Primer

Prenatal screenings consist of many tests, ranging from ultrasound, blood tests, to tests like amniocentesis and CVS (Chorionic villi sampling).  Ultrasound and maternal blood tests have been used to get a sense and probability of whether a baby may have a genetic defect, and whether the Mother is suffering from any complications in her pregnancy. Blood tests and ultrasounds are not invasive tests, (although you could argue early ultrasound with internal probes are pretty invasive) but they also do not provide a definitive answer of whether or not a particular child may have a genetic disorder.

Amnio and CVS give a more definitive answer.  These tests actually take samples of the fetal DNA for a process known as karyotyping, to look for any chromosomal variations, but these invasive procedures, involving sticking a needle into the fetal membranes, have also carried a risk for miscarriage of about 1 in 100.

However, there’s now a less invasive method to get a definitive answer about fetal genetic problems.  There’s a new test on the market from folks like Sequenom, where they can identify fetal cells in the maternal blood stream and determine accordingly whether a child has any genetic illnesses.  While currently available to test for the most common genetic disorders like trisomy 21 or Down Syndrome, it could soon include testing for diseases like cystic fibrosis and more.

This raises as many questions as it answers.  Prenatal testing lets parents make decisions about whether to carry a fetus to term, but it also lets those deciding to have affected children get plugged into appropriate services, support communities and more right away, from the day the child is born.

Let’s take an example of a friend who had a baby with a relatively rare metabolic disorder, affecting the baby’s ability to digest milk.  By finding this out right away, the baby’s nutrition could be altered, preventing what could have become serious organ damage.  As a result of this testing, this baby will go on to live a really normal life, just one that will always be free of dairy.  No problem, but without the ability to genetically test the family for this issue, one that could have serious effects for the infant and the family as a whole.

Similarly, for families who know their children will be effected with things like Down Syndrome, these folks get partnered with parents who have already been there and get guided through their child’s special needs and the services they will need from the beginning.  The services and special education needs will be extensive.  They will also be expensive, monetarily and emotionally for parents.  I know this, because I’ve been through it with my own kids who have relatively mild learning disabilities, and with friends who have kids with autism spectrum disorders.  None of this is a piece of cake, no matter how many joys it brings with them.

I get that we’re worried about genetic testing leading to eugenics, where only those deemed “fit” will be born- we all read “Brave New World” in high school and understand that what was science fiction is now closer to reality than we might like.  But I also understand that parents need to be able to make decisions on how they want to construct their own families.  Children with disabilities change a family.  Resources are invested in terms of time and money that mean other children in the family not only get less of these things, but they are also often responsible for the child with the disability after the parents are gone.  It’s a long term decision that effects everyone, and I’m not sure the government, in any way, shape, or form, has any right in making those decisions for that family.  These are not easy decisions.  They are not cut and dried.  But they are decisions folks have to make every day.  I just think the Government has to leave some of these decisions to families regardless of what they do with the information, and let people live their lives.  That’s freedom- to make your choices and deal with the consequences.

Anything that takes choices out of people’s hands is too much government interference in my book. I don’t care how you justify it.

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