What to expect for Down syndrome prenatal testing for 2014

This week’s posts so far have shared the top 5 blog posts from the past and the top developments in Down syndrome prenatal testing in 2013. With the new year just beginning, we now look ahead to what can be expected for Down syndrome prenatal testing in 2014.

1. More women will undergo prenatal testing than ever before: this trend has been rising ever since the standards changed in 2007 for all women to be offered prenatal testing for Down syndrome. It’s not surprising that with more women being offered prenatal testing, more will accept it. But, what will cause this trend to spike upward is that more women will be covered for prenatal care through health care reform. With cost not being a barrier, it will be one less factor to cause an expectant couple to reflect on whether they truly want prenatal testing. The decision will instead be: it’s more accurate, can be done earlier, and isn’t costly for the patient. Given that framing, it’s not going out on a limb to expect, more women will accept prenatal testing.
2. The NIPS labs will push for NIPS to be offered to all pregnant women: the current standard of care (and therefore what insurance covers) is for non-invasive prenatal screening (NIPS) to be offered to pregnant women considered “high-risk.” When ACOG and the Society for Maternal-Fetal Medicine issued their statement with this restriction on who should be offered NIPS, the NIPS labs expressed regret, believing every woman should have access to their tests. Some practitioners agreed with the labs, and offered NIPS to all of their patients–in one case, even where the doctor’s own research showed its results were drastically different than the reported accuracy for high risk populations (the doctor then announced that he was going to work for one of the NIPS labs). But, it is expected that the labs will continue to add to the studies they have done claiming high accuracy rates in low risk populations to make the case for expanding NIPS to the general population. If and when that happens, then prediction #1 is all the more certain: that more women will then accept prenatal testing.
3. More women than ever will find out prenatally they are expecting a child with Down syndrome: This prediction is simply the logical result of prediction #1. With more women accepting prenatal testing, more will receive prenatal results. Almost all will have accepted testing to be reassured that they are not having a child with Down syndrome. So, more women than ever will receive unexpected news through prenatal testing.
4. More women than ever will receive genetic counseling and accurate information about Down syndrome: with more women receiving prenatal test results than ever before, there will be more women than ever receiving information about Down syndrome. Through the National Center for Prenatally & Postnatally Down Syndrome Resources, more genetic counselors and obstetricians than ever have accurate, up-to-date, medically-reviewed materials to provide their patients, that are recommended and approved by professional guidelines. Further, through legislative efforts like those in Massachusetts and Kentucky, practitioners in those states will provide these materials pursuant to state law. And, more Down syndrome support organizations report supporting a growing percentage of  expectant families. But …
5. More women than ever will not receive genetic counseling and accurate information about Down syndrome: this reflects the current inadequate system for administering prenatal testing. Yes, all women will be offered testing; more will accept it; but the number of genetic counselors and trained obstetric professionals are insufficient to serve this growing patient population receiving prenatal results. As a result, even though more women than ever will receive the needed information and support, there will simply be even more women who do not.
6. There will be claims of wrongful birth: Every year there is a headline that a family received a judgment of millions of dollars because while they swear they love their child with Down syndrome, had their OB tested them, or returned their test results correctly, they would have aborted their child. These are called “wrongful birth” lawsuits. A wrinkle in this scenario that is introduced by the newest guidelines recognizing chromosomal microarray analysis (“CMA”) as a first-tier diagnostic test, is that these headlines may now involve rare genetic conditions. Simply because CMA can diagnosis thousands of genetic variants, that means there are thousands of conditions that can be selectively aborted against. As more women are offered prenatal testing, with more conditions able to be diagnosed, those women who give birth to a child and weren’t offered testing, or weren’t offered CMA, or whose results were mis-reported, will be possible plaintiffs in a wrongful birth lawsuit. This will cause even more defensive practice of medicine, with prenatal testing being offered repeatedly and documented in order to defend against such claims.
7. More selective abortions for Down syndrome than ever will be performed in 2014: this is the logical result of the previous predictions. With more women receiving a prenatal result for Down syndrome than ever; with many of these women not receiving the recommended materials, counseling, and referral to support organizations; and, with the trend always being that most women terminate their pregnancies following a prenatal test result for Down syndrome, there will be more selective abortions than ever for Down syndrome. This will happen even if–or really because–the termination rate will be lower than the oft-quoted, but inaccurate, termination rate of 90%. That figure is from the 1980’s, when the mothers undergoing prenatal testing were typically over 35 and many were already considering the possibility of terminating due to the increased chance of having a child with Down syndrome. Now all women are to be offered prenatal testing, so that increases the number who will receive a prenatal result. Nine-out-of-ten will not abort, so the rate won’t be 90%; but because there are that many more receiving a result, even if 6-out-10 abort, that percentage will be of a much larger number of expectant women. As a result, there will be more selective terminations than ever, and we will start to see a reduction in the number of babies born with Down syndrome in the United States.

2014 will see the largest expansion in the number of women undergoing prenatal testing. Many will receive the materials and counseling recommended by professional guidelines. Even more will not, unfortunately. And, most will choose to terminate their pregnancies following a prenatal result. That is, unless those involved in the administration of prenatal testing start to comply with all of the recommendations made by the professional guidelines of providing accurate written materials and referral to genetic counseling and support organizations. But NIPS labs’ business decisions, physician training, legal precedence, and history do not support a prediction that that change will happen.