How should doctors deliver a diagnosis of Down syndrome?
October 2nd, 2009Landmark research offers recommendations for delivering the news, either prenatally or after baby’s birth
Parents’ preference: Don’t say ‘I’m sorry’
In a historic first, two leading professional journals this week published research advising doctors on how to deliver a diagnosis of Down syndrome, either prenatally or after a baby is born.
Advocates and physicians have been calling for guidance on delivering diagnoses ever since the American College of Obstetricians and Gynecologists (ACOG) recommended in 2007 that obstetricians offer prenatal screening and testing for Down syndrome to all pregnant women, regardless of age.
The 2007 ACOG recommendations were not accompanied by any assistance to doctors in delivering diagnoses, and many doctors have reported in survey research that they haven’t gotten professional training about individuals with intellectual disabilities, or about prenatal diagnosis or counseling expectant parents.
In publications released online, the journals Pediatrics and the American Journal of Medical Genetics provided guidelines prepared by a 29-member team of doctors, genetic counselors and other health care professionals from around the country. The recommendations were synthesized from a review of parent surveys and research over the past five decades, and incorporate the views of mothers who had received Down syndrome diagnoses. In many cases, these parents said they felt the information that was provided to them was inaccurate, incomplete, or delivered in a manner that was offensive and damaging.
Whether they had received the news prenatally or after the birth of a child, parents agreed that they preferred to get the diagnosis together, from a knowledgeable professional, and that they be provided with up-to-date information about Down syndrome, its causes, and the prospects for a child living with Down syndrome today.
Parents asked that physicians use sensitive and nonjudgmental language, and avoid sharing unsolicited personal opinions. They asked particularly that doctors avoid saying “I’m sorry,” or “Unfortunately, I have some bad news to share.”
Women who received the news prenatally said they wished to hear it in person or at a pre-established time by phone. They said further that they wanted doctors to discuss all options available to them, including continuing the pregnancy, terminating the pregnancy, or putting the baby up for adoption after birth.
Those who received a diagnosis after the birth of their child said they wished to receive the news together in a joint meeting with their obstetrician and pediatrician, in a private setting, as soon as a physician suspects that Down syndrome is a possibility. They asked that they be given contact information for support groups and other parents of children with Down syndrome.
The guidance for physicians arrives at a time when prenatal testing is on the rise, following the 2007 ACOG recommendations, and is expected to expand further in the near future. A number of companies and research teams are vying to be the first to unveil a maternal blood test that will provide a definitive diagnosis of Down syndrome in the first trimester of pregnancy. Doctors say the number of pregnancies involving Down syndrome is rising as more women postpone their childbearing years. Women over the age of 35 are statistically more likely to have fetuses with Down syndrome than are younger women.
Lead researcher Brian Skotko of Children’s Hospital Boston offers a synopsis of the recommendations.
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October 8th, 2009 at 11:27 am
I knew as soon as I saw my baby boy that he had Down Syndrome. I am 39 and had a triple screen that was high risk for Down syndrome, so I took it upon myself to educate myself about it.
When the doctors and staff finally mentioned it to me, they weren’t telling me anything I didn’t already know. Nobody said anything inappropriate, but really, who cares if they did? The general medical community, family and friends are not generally educated about Down syndrome. I think they all appreciated the fact I had understood my risk and prepared myself accordingly.
It saddened me that my son will likely have mental delays, and be more likely to have a litany of other maladies, but that didn’t diminish how much I loved him. I wouldn’t have traded him for a million dollars and a baby without DS. He is my son just like he is.
October 7th, 2009 at 8:51 pm
I think that we can all agree that regardless of when parents receive the diagnosis of Down syndrome, it is difficult. The challenge for all of us is to work to educate healthcare professionals, the media, and educators about what people with Down syndrome and other intellectual disabilities bring to this world. These are the people who impact the decision making of parents and the public at-large. We need them to present accurate, up-to-date and UNBIASED information. Hence the Prenatally and Postnatally Diagnosed Conditions Awareness Act, known as the Kennedy Brownback Bill. Now let’s make it happen!
October 7th, 2009 at 6:52 pm
I’d say the upwards of 80% termination rate for those who receive a pre-natal diagnosis of Down syndrome far outweighs any potential positives.
With that, I have a tremendous amount of respect for those who receive a pre-natal diagnosis and decide to have the baby.
October 7th, 2009 at 3:20 pm
“Don’t get the test in the first place” is truly NOT the answer to the inadequacies of delivering a prenatal diagnosis. These words touch a nerve with many of us who have struggled over prenatal testing decisions. There are very real and concrete benefits of a prenatal diagnosis to both parents and child (as well as downsides). Parents in post-diagnosis pregnancy have a LOT to deal with, including emotional turmoil, potential negative comments by doctors and loved ones, and fear and anxiety. They certainly do not need to be made to feel separated in the Down syndrome community, with their reasons for undergoing invasive testing treated as frivolous.
I am so grateful these doctors took the time to analize this issue and hope it benefits many parents in the future.
October 7th, 2009 at 12:47 pm
I am just thinking if the best way to avoid a bad experience with a pre-natal diagnosis is to skip it in the first place, then the best way to avoid a bad experience with a post-natal diagnosis would be not to have a baby? That is not really a solution to the issue.
I had a pre-natal diagnosis. The experience was as good as it could have been under the circumstances. My doctor did a fine job – the best thing he did was not pass judgment. He gave me information and comfort and guidance. My doctor, my husband and I made the decision to have the pre-natal diagnosis. The day of my daughter’s birth was one of the happiest days and greatest celebrations ever! My path. Not everyone’s.
October 5th, 2009 at 7:22 pm
The best way to avoid a bad experience while receiving a pre-natal diagnosis – don’t get the test in the first place.
After the blessed event, I don’t think there is a good way to deliver the news.
However, it certainly shouldn’t happen when the mom is alone and it shouldn’t be presented as a death sentence.
October 3rd, 2009 at 2:06 pm
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
October 3rd, 2009 at 12:39 pm
My recommendation is to try to wait (if possible) until a patient is already scheduled to come to the office, so that they’re not already figuring out it is some kind of unwelcome news. I was called at work & told I needed to come in to discuss my amnio. I am 41, and this is my 3rd baby. Obviously, I knew something was up. This was a Thursday, and I had an appointmet that Monday. I was a few days shy of 17 weeks pregnant, so there was no emergency in letting me know that day. Instead, I wound up immediately driving to my drs’ office, which was a 45 minute car ride from my job, in a torrential downpour, by myself, hysterically sobbing all the way. It is no wonder I didn’t get killed in a car accident on the way there. When I got there, my dr said it was bad news, and told me I had time to make a decision. I had already decided I was keeping my baby no matter what, and I expressed that right then & there, so it would have been nice to hear some of the positives, and given some encouragemnet on raising a baby with Down Syndrome, instead of feeling like I had been given a death sentence. In my doctor’s defense, he didn’t harp on termination, like some doctors do, and when I explained how I felt at my next appointment, his partner apologized profusely and said she was glad I shared how I felt about how I was told, because they wanted to grow as doctors and that included being open to learning a better way to deliver news like this. They both turned out to be sympathetic and supportive my whole pregnancy, up to and including when I had to change to a high-risk OB. They wanted me to make sure I still came to them if I needed anything at all.
October 3rd, 2009 at 7:45 am
My recommendation for a postnatal dx? Let me hold my child first. I was robbed of the first moments of my child’s life because I was not able to hold him before they told me they thought he had Ds. This is after the prenatal quad screen was “messed up” by the lab, but they assured me there were no soft markers in the ultrasound, plus I’m young. Anyway, it would have been great to have had time to hold him and love him without the proverbial elephant in the room. Now when I look at him now, I see the baby, not the dx, but you never get to make a new memory of those first few moments of life back.
October 2nd, 2009 at 10:59 pm
I applaud this recommendation in particular: “Women who received the news prenatally said they wished to hear it in person or at a pre-established time by phone.” What comes over medical professionals and their sense of timing? Is it that much of a 911 emergency that they MUST hound us out of meetings, classes and simply grocery shopping? My prenatal test results were delivered unexpectedly by phone in the middle of a busy, stress filled law firm. Hardly the place to fall apart. Keeping ones “Game Face” on is expected though near impossible at times like that.