What’s wrong with the Yahoo! story of why a mom terminated her pregnancy for Down syndrome

by Petr Kratochvil, photo courtesy of www.publicdomainpictures.net

by Petr Kratochvil, photo courtesy of www.publicdomainpictures.net

What’s wrong is that the decision was made after receiving false information, not all the information, and without seeking more information. And, what’s more, this is happening so often as to be the norm of how prenatal testing is administered.

Sophie Horan shared her experience on Yahoo Parenting of receiving a prenatal test result for Down syndrome and why she terminated her pregnancy. Here’s what’s wrong about the article (and hopefully for the first and second point, Yahoo! will either share this post or issue a correction).

False information

The pervasive misunderstanding about non-invasive prenatal screening (NIPS)–the new prenatal blood test for Down syndrome–is writ large in Horan’s account.

She is told the test tests fetal DNA–it does not. It tests placental DNA.

Horan is told “with this new blood test” she won’t need to do a CVS or amnio–NIPS remains a screening test with false positives and false negatives that can only be confirmed by diagnostic testing.

Her social worker tells Horan, based on the NIPS test, “there is a 99% chance that your child will be born with Down syndrome”–no NIPS test reports with that accuracy. Unfortunately, the social worker, like other medical team members, confuse the marketing of NIPS tests that their tests detect 99% of pregnancies with Down syndrome as saying that the test then means a 99% chance of having a child with Down syndrome. It’s an easy, and common mistake, but 99% is the detection rate, while the 99% chance of having a child with Down syndrome is the positive predictive value (PPV). It doesn’t help that labs like Sequenom, the maker of Horan’s chosen test, MaterniT21, not only do not report the PPV, but report simply “positive” or “negative” as though its results are definitive, when they are not. The National Society of Genetic Counselors (NSGC) has called on the NIPS labs to report with each result the PPV for the individual patient, but so far, most do not. While being 42 likely made Horan’s PPV close to 95%, that still meant her NIPS result had a 5% chance of being a false positive–not just a 1% chance, as the social worker advised. Had Horan been 30, she would have had a 50% chance of it being a false positive, so PPV is the relevant number, but it is not reported by NIPS labs.

Horan ultimately has a CVS, but again, her account does not share the critical point made in the NSGC’s fact sheet on NIPS: that a CVS can be just as inaccurate as the NIPS result. This is because both test placental cells. Had Horan been advised of this, she might have instead had the more accurate, and less risky to her pregnancy, test of an amniocentesis.

Insufficient information

While some details may have been omitted, it seems apparent from Horan’s account that her medical team failed to follow the guidelines on prenatal testing for Down syndrome, and specifically for NIPS.

All women are to be offered prenatal testing for Down syndrome per the guidelines of the American Congress of Obstetricians & Gynecologists (ACOG). But, when their test results are positive for Down syndrome, then they are also to be referred to a genetic  counselor, receive accurate information about Down syndrome, and the guidelines recognize that referral to a social worker, clergy, and local and national Down syndrome support organizations can be very helpful. The NSGC and the American Academy of Pediatrics similarly recognize that women should receive accurate information and referral to support organizations, with the NSGC providing a list of approved resources in its guidelines.

From Horan’s account the only one of these resources she was provided was a social worker, who is the one who reported all prenatal test results to her. Not a genetic counselor. And no mention of a referral to her local Down syndrome organization or written materials.

Specifically, having received NIPS testing, the American College of Medical Genetics & Genomics (ACMG) identifies three written resources for expectant mothers to receive with a NIPS result:

From her account, Horan was not given the “rest of the information” recommended by professional guidelines. While regrettable–and actually malpractice–it is not surprising given that only 29% of surveyed ACOG fellows say they provided educational materials to their patients.

One final bit of counseling that she apparently was never advised of after being given her test results is that there are over 100 families on a national registry wanting to adopt a child with Down syndrome. She obviously was counseled on terminating her pregnancy, and she considered continuing her pregnancy, but the option of adoption was never shared with her.

Insufficient investigation

Here’s where I hope I tread lightly.

Already, Horan’s account has prompted many on social media to judge her actions and condemn her for her choice. I hope my criticism is more measured.

The easy position for judging is from those who want to condemn her for having an abortion. But, doing so ignores some very key details about Horan’s account.

Read how she describes her pregnancy: it was a wanted pregnancy, a sought after pregnancy, having had trouble conceiving. Her husband went online after receiving the test results to search “raising a Down syndrome child.” And, her last line is the most telling of all:

And I would make it as a mother who wanted to do the best for her child.

(emphasis mine). Horan’s account is like those who have shared their experiences of terminating a pregnancy based on a prenatal result. They consider themselves mothers; they are carrying children, not fetuses or an accumulation of cells; and, yet, they still end their child’s life because they think it is the compassionate act to do so.

So, those who wish to cast judgment because they are against abortion are of course free to do so, but it won’t change these decisions because these mothers already know they are ending a life.

Where my criticism lies is in the insufficient investigation done for the examples she cites to justify her decision.

Horan refers to individuals at “Nana’s nursing home” who are intellectually disabled. Horan says they just stare off into space and that Nana says no one comes to visit them.

Horan also mentions being out to dinner with her husband and seeing a couple with their son with Down syndrome. The couple had to keep him from darting off into the street and were helping feed him a slice of pizza and wiping his face with a napkin.

Horan shares these two examples as though it would seem clear to anyone, or at least understandable to the common reader, why ending her child’s life was the compassionate decision.

Except, note what Horan didn’t do.

She didn’t bother to talk to the individuals at Nana’s nursing home, or those who care for them. She didn’t seek to find out if how those individuals perceive their lives. Are they lonely or are they happy?

She didn’t stop to ask the couple about their son or about their family life.

Now some may object saying how awkward or intrusive that would have been for Horan to do so. But, Horan earlier detailed a discussion she had with a nurse about whether the needle for her CVS would be inserted through her abdomen or her vagina and that the procedure could result in a miscarriage of her pregnancy.

So, if one is willing to accept that risk and intrusion, then asking people living lives with Down syndrome what that life is like seems less risky and intrusive.

Had Horan done so, perhaps she would have learned from the individuals that they likely were in the 99% who love their lives. If she had talked to the parents, she may have learned they likely were in the 97% who were proud of their child and the 99% who loved their child. If she had asked about the child’s brothers and sisters, Horan may have learned that they consider themselves better people for having a brother with Down syndrome.

But, Horan didn’t. Maybe her decision would have been different had she continued her search for information about Down syndrome, by actually talking to those living a life with Down syndrome.

Far too common

Horan’s situation, unfortunately, actually reflects the state of prenatal testing.

Women are told inaccurate information about the testing itself. They are not provided  the support resources and accurate information about Down syndrome. And, they don’t reach out to their local Down syndrome organizations to find out what living a life with Down syndrome really can be like. And, then, most who have a prenatal result decide to terminate, thinking they are making the compassionate decision to end their child’s life.

The National Center for Prenatal & Postnatal Down Syndrome Resources, where I serve as the bioethics specialist, is working to change this culture of prenatal testing. To ensure women receive accurate information about the testing itself, and specifically about the tested for conditions. It’s why two of the three resources identified by the ACMG are based at the National Center.

By providing expectant mothers and their health care professionals with the information and resources they need, then women, who consider themselves mothers, and their pregnancies as carrying children, can make the decision that is right for them, based on true information, not false or insufficient information.

Comments

  1. What Marernit21 gives is a z score, and only to a MD not the patient, without saying what that means. And a fetal fraction. But most important they only tell patient positive or negative and if positive it’s listed in small print reccomend amnio. What’s a z score mean? Because I haven’t seen you mention that. Thanks!

    • Charity: Here is a presentation by Quest Diagnostics where z-score is discussed at page 5. A z-score is how much of a chromosome is expected to be expressed in a sample and if there is an over expression of that chromosome, then that is what Sequenom, Illumina, and Ariosa base their test results on for saying “positive” for whatever chromosome is over expressed. As I wrote about here, none of these types of tests are ever actually “positive.” I’m sure I’m not saying this exactly right, so if you are undergoing this testing and have these sort of questions, I would recommend discussing them with a genetic counselor or medical geneticist.

  2. There is definitely a problem with the system. After my positive NIPS test I was offered two things an amnio and an abortion. As of to date, it has been almost 6 weeks receiving those results. My medical team has yet to offer me any other resources. All resources I have found supporting me and my baby have been instigated on my own. It would have been nice to speak with a genetic counselor, any counselor, or be referred to a local down syndrome organization.

    • Sundae–thank you for sharing your experience, but it’s so regrettable what you have to share. Offered an abortion after a NIPS test? That’s malpractice and so too is not providing recommended resources identified by professional guidelines to provide information and support to expectant moms. I’m glad you’ve found them, but you shouldn’t have had to find them on your own.

  3. I can’t imagine what it’s like to receive a test result like that. All I can relate to is my sister who decided against having any tests and delivered a son who has Down Syndrome. It has been challenging for her but Luka is an amazing 4 year old boy. When he was one, we were eating at a restaurant and an older couple came up to us and said that she had the most well behaved child they had ever seen. I can’t imagine my life without my nephew. His smile lights up the room and his hugs are so genuine that they will bring you to tears. I honestly believe that people are stronger than they think they are. Talk to parents who have a child with Down Syndrome. They will give you more insight than a test could ever do. And believe that all lives can be beautiful, no matter what the future will hold.

    • Thank you for sharing you and your sister’s experience. It’s ours too: the best information about Down syndrome that we received, in terms of accuracy, comprehensiveness, and compassion, was from another parent.

  4. There will never be ‘freedom of choice’ while unequal chances for people with Down syndrome exist in society. In India and China females are aborted because of poor status in society and financial suffering for parents, in the West children with Down are aborted for similar reasons. No amount of ‘fair’ and ‘neutral’ information will change this. Prenatal testing market is driven by profits and governments worldwide should recognize human rights are hurt by the practice of prenatal screening and selection..

  5. I have a nephew with Down Syndrome. He is a wonderful person, and the family has been greatly enriched by his presence. He also had the language skills of a superior child when he was only in his preschool years; he accomplished at 11 months what superior children according to Glenn Doman accomplish at 13 months. He had the language development of a five year old at the age of 3 1/2, and I have a video of him having a philosophical discussion with his brother when he was about that age. The problem isn’t mental retardation. It is a different learning style. We don’t meet their needs. If they got an education that meets their needs, there is no telling how much they could accomplish.

Trackbacks

  1. […] her reasons for terminating after finding out prenatally her child had Down syndrome. I wrote about her account as did Maureen Wallace, on why she didn’t terminate after a prenatal […]

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