New guidelines for physicians: How to give a diagnosis of Down syndrome

stockphotopro_731969kha_pregnant_elly_jp(2)by Brian Skotko, MD, MPP

Every mother and father who has a child with Down syndrome remembers vividly when they first learned of the diagnosis. One mother once wrote me that she was shopping in her favorite grocery story, selecting a can of garbanzo beans, when her cell phone went off. It was her obstetrician, calling to inform her that the “test” came back “positive” for Down syndrome. She froze, she wrote. After all of those years shopping in the same store, she could not find the door. Another mother, then a third-grade teacher, recounted how the PA speaker announced while she was teaching that an “important phone call” was awaiting her in the administrative offices. She told her class to read their books, while she walked to the principal’s office. It was the obstetrician’s assistant. “We wanted to tell you right away: it’s Down syndrome,” the mother recalled. She was unable to return to her class.

There are better ways than others to inform an expectant parent of a diagnosis of Down syndrome but to-date, there have been no standard guidelines for physicians.

I was recently asked to lead a 29-member team of obstetricians, geneticists, pediatricians, genetic counselors, family medicine physicians and other health care professionals in taking a look at best practices on how to deliver a diagnosis. We combed the library stacks, attempting to uncover every research article from 1960 onward that was written on the topic. After assembling studies from around the world, we have published recommendations in two new review articles.

In the American Journal of Medical Genetics, we reviewed the evidence in how to deliver a prenatal diagnosis of Down syndrome and make nine new recommendations for physicians based on our results, among which showed that expectant couples:

  • prefer to receive a diagnosis from physicians
  • prefer to receive the diagnosis as soon as possible following definitive prenatal testing, and in the company of their partner
  • wish to receive the results of their definitive testing in person or at a pre-established time by phone
  • want to be provided with accurate information about Down syndrome and medical conditions associated with the disorder
  • value being given the opportunity to reach out to parents of children with Down syndrome

In Pediatrics, we reviewed the evidence of how to deliver a postnatal diagnosis and make 10 recommendations for how parents should receive a postnatal diagnosis, including:

  • Obstetricians and pediatricians should be the persons to deliver the news, jointly, to new parents
  • The diagnosis should take place in a private setting as soon as a physician suspects a diagnosis of Down syndrome
  • Both parents should be informed together, if possible
  • Conversations should start with positive words, avoid language that conveys pity or sorrow, and not involve unsolicited personal opinions
  • Accurate, up-to-date information should be communicated, and information offered for local support groups and community resources

If physicians can implement a few simple measures such as these, hopefully all mothers will be able to say what one parent once wrote me, “Although the news was certainly difficult to hear at first, my doctor gave me the news in such a kind and sensitive manner.”

3 thoughts on “New guidelines for physicians: How to give a diagnosis of Down syndrome

  1. Hello,

    I am an outreach coordinator for the health video website http://www.icyou.com.

    In honor of National Down Syndrome Awareness Month in October we have uploaded many new health videos relevant to this post on your site. We have interviews and insight from various professionals, patients, organizations and others. Plenty of videos can help to answer questions and provide general information on Down Syndrome and other health-related topics. We hope to continue uploading new Down Syndrome material daily.

    Please feel free to share the URLs for the pieces (included below) and/or embed the videos directly onto your own website (available through URLs) – our goal is to simply spread the information as far and wide as we can.

    If you have any questions or comments about these videos or icyou in general, don’t hesitate to contact me. Thanks very much for your time.

    Regards,

    Laura Robbins

    Outreach coordinator
    http://www.icyou.com
    laura.robbins@benefitfocus.com

    icyou’s Down Syndrome videos:
    http://www.icyou.com/topics/medical-fields/pediatrics/down-syndrome+

  2. About 5 minutes after our son was born, our doctor told us that he suspected Down syndrome. He delivered the news very compassionately. However, he was unprepared to answer any of our questions, but did arrange for a specialist to come in later that day to talk with us. That was very helpful – but it was a frightening wait.

    We didn’t leave the hospital with a single scrap of paper (this was before the internet) – it took us about a month to locate resources on our own. They did offer to have us talk with a nurse who had a son with DS – but he was in his twenties and we wanted to talk with parents with an infant or toddler – the gap between our baby and a man with Down syndrome seemed to wide to comprehend.

    After my first meeting with other parents of children with disabilities (about 6 months later) I saw how we were all struggling with “why”. The next morning I awoke with a story in my head. Here’s a link to it. It helped us and has been well received by others as well.

    http://tinyurl.com/secretjourney

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