Continuing the chapter of the book devoted to the most chosen option following a prenatal diagnosis, this section makes the case that, for all those stated reasons, THE reason for prenatal testing for Down syndrome is: abortion.
If you talk with expectant mothers and those administering prenatal genetic testing, e.g. genetic counselors, obstetricians, laboratory representatives, they will almost reflexively provide a myriad of reasons for prenatal testing. Many mothers who have continued a pregnancy after receiving a prenatal test result are glad that they found out early so they could prepare themselves and their loved ones for the birth of their child with Down syndrome. Practitioners claim that the early knowledge that a fetus may have Down syndrome can allow for birth plans for delivering at a hospital with a NICU in case of complications. The marketing from the testing labs highlight how prenatal testing provides reassurance to those moms who find out they are not having a child with the tested-for condition. While all of these reasons have been cited by those involved with prenatal genetic testing, according to medical guidelines and legal holdings, the reason for prenatal testing for genetic conditions like Down syndrome is abortion.
When ACOG changed the standard of care in 2007, it candidly stated at the beginning of Practice Bulletin No. 88 that the reason for prenatal diagnostic testing being offered to all women is because earlier detection allows for an earlier abortion. In 2016, when ACOG revised its stance on cell free DNA screening, it comprehensively listed the reasons for prenatal testing:
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-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. … Prenatal genetic testing has many benefits, including
- reassuring patients when results are normal,
- identifying disorders for which prenatal treatment may provide benefit,
- optimizing neonatal outcomes by ensuring the appropriate location for delivery and the necessary personnel to care for affected infants,
- 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.
Anecdotally, through conversations and in on-line posts, moms report being relieved by receiving a screen-negative prenatal result. However, there has not been any study published that finds that this reassurance, in and of itself, is enough of a medical benefit to justify offering prenatal testing to all women. If anything, as covered in Chapter 2’s discussion of prenatal screening, there is not just anecdotal evidence, but published peer-reviewed studies on the increased anxiety women experience due to prenatal testing, even when they receive a screen-negative.
It is inarguable that prenatal genetic testing can be justified where it identifies conditions that then can be treated prenatally. It could even be argued that the offer of prenatal genetic testing is ethically obligatory when there exists treatment for the tested-for condition. The failure to offer such testing could result in a delayed diagnosis and increased medical impact on the fetus that could have been avoided through timely treatment. Surgeons have made amazing developments with in utero surgery for certain conditions discovered through prenatal testing. But (as will be discussed more in Chapter 7), no such prenatal treatments yet exist for Down syndrome or other genetic conditions.
ACOG’s third-stated reason of optimizing neonatal outcomes by ensuring appropriate location and staffing for delivery is equally lacking in published research to support it. The notion sounds excellent and, again, many mothers have shared how they were able to make arrangements at a higher-level birthing center after a prenatal test result for Down syndrome. However, there are no reported studies 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. This stands to reason given that the most common occurring condition associated with Down syndrome in need of surgical repair is a heart defect. However, neonatal cardiac surgery is almost always performed months after the child has been born to allow for the child to simply grow large enough for the surgery to take place. Further, a prenatal diagnosis of Down syndrome, in and of itself, does not alert a medical team to the need for NICU-level services. The finding of a physiological malformation, like a heart or intestinal malformation, is not revealed by an amnio or a cell-free DNA screen, but only by a second trimester (or later) ultrasound, something that is standard practice for all pregnancies.
With the first three reasons shown not to justify the offering of prenatal genetic testing, it is ACOG’s fourth-stated reason—abortion—that provides the sole basis for prenatal testing for those genetic conditions for which there is no prenatal treatment. 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 companion guideline on prenatal diagnostic testing:
“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 in the guideline that “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 testing is performed.
As stated at the beginning, many women and practitioners provide several reasons for having prenatal testing. My point here is not about why women may choose to have prenatal testing. My point is that of the stated justifications for prenatal genetic testing by the medical guidelines, abortion is the only reason that applies to prenatal testing for Down syndrome and other genetic conditions without prenatal treatments.
Recent Comments