What every woman needs to know about Down syndrome prenatal testing, a review

What every woman needs to know about prenatal testingEarlier this year, Amy Julia Becker released a new book entitled, What Every Woman Needs to Know about Prenatal Testing: insight from a mom who has been there.” As with everything Becker writes, it intertwines compassion with needed analysis of a decision all pregnant women will confront in this new age of prenatal testing.

Becker’s title is entirely appropriate. Under current obstetric and medical genetics guidelines, every pregnant woman is to be offered prenatal testing for Down syndrome and other aneuploidies. Therefore, every woman does need to know about prenatal testing, since it will be offered to them, typically at their first prenatal care visit. More importantly, Becker deals with the reason it is being offered in the most up-front way, unlike what is too often the case with medical professionals.

As I’ve written previously, there is a “Voldemort” associated with prenatal testing: that which must not be said. Professional societies shy away from saying it in their most recent statements on the newest form of prenatal testing. And, in practice, women report being surprised at being asked the ultimate question after receiving a prenatal diagnosis. This, despite professional guidelines instructing that physicians counsel their patients about this “Voldemort.”

Becker, however, deals with that-which-must-not-be-said in a candid and compassionate manner.

The Voldemort of prenatal testing is abortion. Pursuant to practice guidelines, obstetricians are instructed that they should counsel their patients about termination following a prenatal diagnosis. Despite this professional requirement, women typically are not counseled that in accepting prenatal testing, they will ultimately be confronted with a decision on whether to continue their pregnancy. This practice creates what has been called the “gradual trap

  • The mother accepts prenatal screening, seeking reassurance that their pregnancy is unaffected;
  • She receives a higher probability result and accepts diagnostic testing, again to make sure “everything is okay;” and,
  • Only after a diagnostic result does she then realize this process leads to the decision of whether she wants to abort.

Becker, instead, includes a quote from Rayna Rapp, which makes plain the purpose of prenatal testing:

The technology of prenatal diagnosis was developed explicitly to allow the selective abortion of fetuses facing serious disabilities because of atypical chromosomes and genes.

Knowing this up-front informs the decision then to either accept or forgo prenatal testing. For, as Becker, further explains, besides diagnosing whether a pregnancy is positive for Down syndrome (or Edwards or Pateau syndrome) prenatal genetic testing does not, by itself, tell the expectant mother anything else about their developing child or whether there are associated medical complications. Only through high-level ultrasound typically performed in the second trimester would structural, i.e. heart or intestinal, issues be revealed which would need to be dealt with near or after birth.

Near the beginning, Becker shares the view of a developmental pediatrician on the need for “pre prenatal counseling.” Indeed, in the wake of the newest form of prenatal testing, Non-Invasive Prenatal Screening (NIPS), professional societies recommend pre-test counseling along with post-test counseling. And, when ACOG changed the standard of care such that all women would be offered prenatal testing, one glaring gap in the recommendations was the lack of any recommendations on how patients should be counseled in offering prenatal testing. Hence, the experience of many women being surprised at being confronted with an unexpected decision of whether they wish to terminate a wanted pregnancy on the basis of the fetus’ genetic make-up.

Becker’s book does its part to address this gap. By re-ordering the way prenatal testing decisions are discussed, so that women begin with the end in mind, i.e. addressing the ultimate decision when considering to initially accept prenatal testing, her book should lead to more decisions being made consistent with the patient’s personal views and values–the whole point of prenatal testing.

Many women accept prenatal testing because of their desire to know and to prepare, without any intention of termination. While this review has focused on the end decision, Becker’s book is far more than just this re-ordering of the decision tree. She addresses the role of prenatal testing for each stage an expectant mother may be in: intending to continue, regardless of prenatal testing result; considering termination depending on the prenatal test result; and, those who are undecided. She shares her personal experience, her own misunderstanding (due in part to incomplete counseling), and she shares information from relevant research studies and patient experiences to help expectant mothers in each of these stages.

Lastly, while Becker’s work is referred to as a “book,” that should not dissuade potential readers who do not regularly read “books”–particularly expectant moms considering prenatal testing. Becker’s work is an appropriately brief book, that does not overwhelm the reader with facts and stats. Rather, it is told in a conversational-style that puts the reader at ease, even when discussing emotional issues. It is a needed book for expectant mothers who will make more informed decisions about prenatal testing should they take the 90 minutes or so that it takes to read What Every Woman Needs to Know cover-to-cover. Similarly, should medical professionals take the same amount of time to read it for themselves, Becker’s book will provide insight into the patient’s experience which may inform and improve counseling about prenatal testing.