Coming to 20 major U.S. metropolitan areas this week will be a test called MaterniT21™ from Sequenom™. Over the past 25 years we’ve gone from alpha-fetoprotein testing, to adding 2, 3 and more recently 4 tests as “penta” screen to try to improve the estimation of a woman’s risk for having a trisomy-21, or Down’s syndrome pregnancy without actually obtaining fetal cells, but all they have really done is improve statistical prediction capability. Up to this point in order to tell if a woman is carrying a Down’s Syndrome baby required amniocentesis to obtain amniotic fluid at about 16-18 weeks gestation, or the arguably higher risk chorioamniotic villous sampling at 10-12 weeks gestation. Both of these tests ran low (estimated 1/350) but real risks of fetal injury and miscarriage. Now from a company named Sequenom™ comes a test on fetal cells obtained by a venous blood sample of the pregnant women’s blood as early as 10 weeks gestation that can do genetic screening for Down’s Syndrome without more invasive ways to obtain fetal cells. The initial study of 212 women showed a >99% accuracy rate. (1 false positive, 2 false negatives in 212 women tested).
This is both exciting and frightening. It raises huge questions including who if anyone should get this testing. Here is a list of some of the issues that come to my mind as we start the process of figuring out the role of this new technology:
- Increased Abortions and Earlier Abortions of Down’s Syndrome Pregnancies: One consequence of a more accurate test for Down ’s syndrome if it leads to more widespread testing or women for this condition is that more women will face the decision of abortion or not. Now women first face the question, “Would I abort my pregnancy if I knew I had Down’s syndrome, and if so am I willing to undergo a test that could cause miscarriage to get that information.” With the Sequenom™ MaterniT21™ test women will be able to get much more definitive information without a test that puts their fetus at risk from the test itself. This may lead to more women choosing to be tested. Putting aside the whole “pro-life vs. pro-choice” debate, the opportunity for earlier diagnosis will make technically easier and less physically traumatic abortions possible in women who have a Down’s Syndrome pregnancy.
- Who should be Eligible for the Test?: Although the risk of Down ’s syndrome rises with increasing maternal age many Down’s Syndrome babies have young Moms. With a more accurate and less dangerous test available should all or more women be offered the test?
- Who should pay for the testing?: This is a very complicated question. This test is not going to be inexpensive. On the Sequenom™ press release they suggest that the cost will approximate the cost of amniocentesis testing. They do not make it clear if this means the cost of the amniocentesis test itself, the cost of the genetic testing of the cells obtained, or both. If the test is done it will lead to higher costs for prenatal care as the test itself will significantly increase the overall cost of prenatal care. On the other hand the cost of having a Down ’s syndrome baby is not inconsequential. Down ’s syndrome children sometimes have major other congenital deformities, and the long term cost of education, support as adults, and associated family and societal costs are real and significant. A comprehensive cost-benefit analysis of this process will be interesting to see when it becomes available. These issues themselves will lead to ethical and moral choices.
- Lower Incidence of Down’s Syndrome: If this tests becomes widely used, and if more women choose to abort pregnancies with Down’s Syndrome fetuses, the incidence of Down’s Syndrome could significantly decline. While many may consider this the desired outcome, some Down’s Syndrome supporters fear that this may lead to reduced support and reduced research into drugs and other techniques to help Down’s children.
I’m sure I’ve only touched the surface of the ethical, emotional, medical, moral and financial issues this new MaterniT21™ test from Sequenom™ and likely others to follow will bring. It seems a near certainty that with the ability to sample fetal cells from maternal blood other genetic tests like tests for cystic fibrosis, sickle cell disease, and many others will follow.
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