For medical elites, prenatal testing for Down syndrome is to allow for abortion

ACOG PB 163The American College of Obstetricians & Gynecologists and the Society for Maternal-Fetal Medicine have issued new guidelines on the administration of prenatal screening and diagnostic testing. A critical reading of the guidelines makes clear that the justifications given for prenatal testing are limited in the case of Down syndrome to allowing for aborting the pregnancy and that preserving the availability of abortion as an option is the primary concern in the administration of prenatal testing. 

Over at the Prenatal Information Research Consortium, I have summarized ACOG and SMFM’s (collectively hereinafter referred to simply as “ACOG”) Practice Bulletins Nos. 162 and 163, the two practice bulletins that appeared in ACOG’s Green Journal in May 2016. The summary discusses how ACOG has revised its previous practice guidelines addressing conventional serum and ultrasound screening and incorporated cell free DNA screening into its recommendations.

I first read Practice Bulletin No. 163, which deals with prenatal screening. In its introduction it states that “Aneuploidy screening and diagnostic testing should be offered to all women early in pregnancy, ideally at the first prenatal visit.” But it didn’t say why it should be offered as early as possible.

Soon thereafter, the Practice Bulletin advised that after a prenatal diagnosis, a patient “must be counseled appropriately so that she can make informed decisions about pregnancy management.” What does ACOG mean by the phrase “pregnancy management?” The Practice Bulletin answered: “counseling should include family education, options about adoption and pregnancy termination, and referral to tertiary perinatal hospice as appropriate.”

Are all of these categories of information actionable only or because of a prenatal diagnosis of Down syndrome? Or is there just one that is only actionable because of a prenatal genetic testing diagnosis? It seems expectant parents could be counseled about family education and adoption independent of prenatal genetic testing. In the case of perinatal hospice, a prenatal diagnosis of Down syndrome would not share information justifying that referral, but an ultrasound anatomy scan might.

Reading further, regarding specific screening methodologies, ACOG Practice Bulletin No. 163 advises that though quad screening may be performed between 15 and 22 6/7 weeks, “the later timing of this test leaves fewer options available if positive.” How so? How does a later quad result diminish the option of adoption? The only option affected is where states have banned or limited access to abortion after 20 weeks or later.

Integrated screening combines first and second trimester screen results, but first trimester results are not reported. Practice Bulletin 163 notes by comparison that sequential screening also combines first and second trimester results, but reports first trimester screen results “when more diagnostic and management options are available.” How’s that? Yes, a first trimester screen could then lead to a first trimester chorionic villus sampling test, but provided the results are reported before twenty weeks, then all “management options” remain.

For cfDNA screening, ACOG acknowledges there are times when those results are unreportable for a myriad of reasons. It cautions that patients may elect to have another cfDNA screen performed but “repeat cfDNA screening may delay diagnosis of fetal aneuploidy, which may affect reproductive options for an abnormal result.”

From Practice Bulletin No. 163, there is a clear emphasis on early offering of screening and diagnostic testing in order to maximize the number of “pregnancy management options.” There are three pregnancy management options: continue the pregnancy, make adoption plans, or terminate the pregnancy. The only one of the three that is time-sensitive is abortion. But, Practice Bulletin No. 163 does not expressly answer why women should be offered prenatal screening.

ACOG is more forthright in Practice Bulletin No. 162, which is focused on prenatal diagnostic testing.

On the very first page, in the italicized abstract, ACOG states:

Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders.
* * *
The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gyncecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. … Prenatal genetic testing has many benefits, including [1] reassuring patients when results are normal, [2] identifying disorders for which prenatal treatment may provide benefit, [3] optimizing neonatal outcomes by ensuring the appropriate location for delivery and the necessary personnel to care for affected infants, [4] and allowing the opportunity for pregnancy termination.

(Numbering added). As prenatal genetic testing pertains to Down syndrome, however, the only listed justification supported by published research is Option 4, abortion.

[1] Reassurance. Anecdotally, I expect most have either heard from an acquaintance or read on-line of moms being relieved by receiving a screen-negative prenatal result. However, there has not been any study published to my knowledge that finds this reassurance, in and of itself, is enough of a medical benefit to offer prenatal testing to all women. If anything, there is not just anecdotal evidence, but reported studies on the increased anxiety women experience due to prenatal testing, even when they receive a screen-negative.

[2] Prenatal treatments. Prenatal genetic testing can be justified where it identifies conditions that then can be prenatally treated. Surgeons have made amazing developments in in utero surgery for certain conditions discovered through prenatal testing. But no such prenatal treatments yet exist for Down syndrome.

[3] Optimizing neonatal outcomes by ensuring appropriate location and staffing for delivery. This, too, sounds excellent and, again, many anecdotes are shared of how parents were able to make arrangements at a higher-level birthing center. However, there are no reported studies to my knowledge that have shown a medical benefit in the case of having a prenatal diagnosis for Down syndrome and neonatal outcomes being improved by delivering at a higher-level facility. In fact, the one study I am aware of found that there was no significant difference in neonatal outcomes where there was a prenatal diagnosis of Down syndrome and the pregnancy was delivered at home by a midwife versus being born at a tertiary level birthing center.

[4] Pregnancy termination. This has been studied and is the most chosen option of mothers following a prenatal diagnosis. From the review of Practice Bulletin No. 163, it is the “pregnancy management option” that is at the forefront of the medical elites’ minds in writing these guidelines. So, too, is it in the remainder of Practice Bulletin No. 162:

  • “The primary advantage of CVS over amniocentesis is that … results are available earlier in pregnancy [which] allow for more management options.” (p. 4)
  • “The option of pregnancy termination should be discussed when a genetic disorder or major structural abnormality is detected prenatally.” (p. 8).
  • “If a diagnosis of a genetic abnormality is made, counseling should include … availability of adoption or pregnancy termination”. (p. 10).

Even the statement “Prenatal diagnosis is not performed solely for assistance with the decision of pregnancy termination” (p. 10) belies an awareness that for many practitioners, allowing for abortion is the reason prenatal diagnosis is performed.

Every word in this post’s headline is significant.

Some may read this column, particularly those who had prenatal testing, and object: “I did not have prenatal testing in order to allow for abortion. I had it to be reassured, and when I wasn’t, I was glad to be able to make plans at a tertiary birthing center, and I know of others who opted to have their child adopted following a prenatal diagnosis of Down syndrome.” But, this critique is not about why women may choose to have prenatal testing. All of those may be why they do so.

This critique is of the perspective of medical elites, namely those who draft practice guidelines, that prenatal testing for Down syndrome is to allow for abortion.

They emphasize how certain screening options risk eliminating the option of abortion.

They instruct that following a prenatal diagnosis, patients should be, must be counseled about pregnancy termination.

And, the only reason of the four given for prenatal genetic testing that is supported by published research, as it applies to a prenatal diagnosis of Down syndrome, is to allow for abortion.

So, for medical elites, prenatal testing for Down syndrome is to allow for abortion.

Comments

  1. And the reason for EARLY detection by prenatal genetic testing is “to prevent women having to decide to terminate pregnancy after they have felt the fetus move” according to Dr. Dick Oepkes, head of the Dutch NIPT consortium who collected data for the large American-Canadian-European study on the NIPT that was published in the New England Journal last year.

    • Please provide a link for the quote. That is one reason, but there are others cited, one being a more private decision because the pregnancy has yet to show.

  2. In this high litigation society we have created, you have to afford the patients all informed options in a timely manner. Whether or not you think abortion should be an option or not it doesn’t matter and weather or not you like it, abortion is an option and a personal decision for the patient and to delay or not offer test to limit this option is unethical.

    • What points in this post are you responding to? I.e., where in this post is the view expressed that abortion should not be an option or my personal beliefs about it? And, by the logic of your comment, then if something is the potential source of litigation, then it is a matter of ethics (your first sentence establishes the premise that because we are in a litigious society, patients must be counseled about abortion following a prenatal diagnosis; you end by saying if they are not so counseled, then that is unethical. Ergo, because it could be a point of litigation, then that makes it a matter of ethics)? If that is not your logic, then why is counseling about termination ethically obligated?

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