New guidelines to blindside expectant moms with toxic knowledge

toxic knowledgeIn a surprising twist on what is considered quality, evidence-based healthcare, new guidelines recommend that expectant moms be blindsided with toxic knowledge.The American Congress of Obstetricians & Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) have issued a new committee opinion that changes how prenatal genetic testing is to be done. Now, instead of karyotyping, the traditional method for genetic testing, those moms undergoing invasive diagnostic testing can be offered karyotyping or microarray testing. If the mother has an ultrasound finding of major structural abnormalities, then microarray is recommended over karyotyping.

Here’s how a possible prenatal visit could go when the results come back:

Thank you, Mr. and Mrs. Jones, for coming in today. We have the test results from your amnio.

First, the good news. While you had a first trimester nuchal translucency finding suggesting Down syndrome, the invasive test came back negative for Down syndrome and any other trisomy condition.

You had the new style of testing called microarray, though, and that reports back much more information. The test reported variants of uncertain significance or “VOUS“.

What that means is that the test found some variation in your baby’s genetic code, but we don’t quite know what those variants mean. It could mean nothing–all of us have a number of variants in our code and they do not result in any form of genetic disease. But your baby’s test indicates a susceptibility for autism, though its not a certainty that this will occur.

Because microarry testing can report genetic variants of unknown significance, mothers who underwent microarray testing have described it as “toxic knowledge.”

As part of the multicenter study on microarray testing, interviews were conducted of moms who received abnormal microarray results. The study ”found that five key elements dominated the experiences of women:”

  1. An offer too good to pass up, for offering more information;
  2. Being blindsided by the results;
  3. Results reporting uncertainty and unquantifiable risks;
  4. The need for moms to receive support; and,
  5. Toxic knowledge, leading to anxiety, frustration, depression, and, in some cases abortion. Women who continued their pregnancies “admitted to ongoing worries, even after the baby appeared normal.”

What is more, is that the ACOG/SMFM committee opinion recommending that microarray testing cites to the report finding toxic knowledge (see reference 13). Of course, the committee opinion doesn’t describe it that way:

In general, the women reported a need for extensive support and counseling regarding the analysis. Although the NICHD trial included an informed consent process, many of these women reported a lack of good understanding of the potential for uncertain results and noted feeling great distress on receiving such information and then needing to decide how to proceed with the pregnancy.

Got that? ACOG/SMFM cite to the very study that reported microarray testing as providing “toxic knowledge.” Further, the recommendations recognize that, even with an informed consent process, women still lacked understanding and felt “great distress” upon receiving microarray information. And, yet, the committee opinion plows ahead recommending that all women undergoing invasive diagnostic testing have microarray testing as an option.

And that’s not all. Back to the doctor’s office:

Mr. & Mrs. Jones, there were some other findings that I need to tell you as well about. Because of your baby’s variant of uncertain significance, we also evaluated samples from each of you to clarify whether the variant is an inherited or new finding in your baby (VOUS). We found that the VOUS was a new finding, and not present in either of you. But the microarray testing also made other findings. 

Microarray testing can detect genetic abnormalities associated with adult onset disorders. I meant to also mention that you’re having a baby girl. The microarray test found the BRCA1 gene mutation, which is associated with a higher risk for breast cancer. Now the VOUS was not BRCA1 and because BRCA1 can be inherited, we also checked, and Mrs. Jones, you, too, have the BRCA1 genetic mutation. 

Mr. Jones, at this point, you may want to step out of the room. Why’s that? Well, you might find this next information upsetting. Oh, you’re going to stay.

Okay, well, microarray can also identify evidence of consanguinity and nonpaternity. Do I need to go on? Sure you want to stay? Because the microarray test also found that this baby is not yours Mr. Jones, but the father may be Mrs. Jones’ third cousin.

 Toxic knowledge: now recommended as part of standard prenatal care.

Trackbacks

  1. […] into focus what we mean by America’s creed that all are created equal. With the latest in micro-array testing, thousands of genetic conditions can be diagnosed. And, with the advances of non-invasive prenatal […]

  2. […] microarray can report findings of unknown significance; that some women find these results “toxic knowledge“; and that she will have a choice to forgo microarray if she […]

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