Prenatal diagnosis of Down syndrome has long presented an ethical dilemma for the genetic counseling profession. As genetic counselors are fond of saying , we strongly support women’s reproductive decisions, including both continuing and terminating pregnancies wherein a fetus has been diagnosed with Down syndrome or other condition. But also in the oath that genetic counselors swear to,* we claim to be strong supporters of the rights and dignity of people with disabilities. The disconnect between these ethical imperatives leaves genetic counselors open to justifiable criticism from people with disabilities, their families, and their advocates. How can we simultaneously support people with disabilities while at the same time participate in a screening program whose primary purpose is to sort out fetuses who have certain disabilities?
The typical response to this criticism is that patients have choices about whether or not to undergo prenatal screening for Down syndrome, and genetic counselors try to be value neutral in supporting patient choices (for the moment leaving aside the economic and social realities that limit women’s choices and that genetic counselors have no control over). One of the purported benefits of prenatal screening for Down syndrome is that it allows couples to prepare for the birth of a child who may have special needs. And as many of my patients’ obstetricians used to say to them, we can be better prepared medically for the baby’s birth. Seem like reasonable points, no?
Well, they do seem like reasonable counterpoints. But this got me thinking – just how much research has been done on the extent to which prenatal diagnosis enhances familial adaptation to a diagnosis of Down syndrome, and how much does it improve the medical and developmental picture for the newborn with Down syndrome? In short, I wanted to know how much benefit people with Down syndrome and their families gain from prenatal diagnosis.
To help answer this question, I performed a PubMed search using these broad terms: Down syndrome, prenatal diagnosis, prenatal screening. I set the parameters to English language articles with abstracts for the ten years prior to September 18, 2015. This produced 1373 articles, 176 of which I eliminated because they were not primarily about prenatal screening for Down syndrome, leaving 1197 articles. I then read the abstract of each article for evidence that the research addressed the benefit of prenatal screening to postnatal adaptation of families or improved medical outcomes for liveborn children with Down syndrome.
1193 articles addressed sensitivity, specificity, assessing test performance, comparison of screening techniques, patient anxiety, ethical critiques both pro and con, program implementation, patient education, economic/cost benefit analysis, circulating placental DNA, maternal serum biochemical analytes, ultrasound markers, psychological responses, termination rates, decision making, etc..
The number of articles that addressed my primary question? Four.
And even this number is a bit of a stretch. Two of the four articles were speculative pieces about how prenatal diagnosis may one day allow options for treatment. These two articles shared a primary author and one article was basically a slight update of the earlier article.
The other two articles reported on the experiences of women who received a prenatal versus a postnatal diagnosis of Down syndrome. One article reported that women had a difficult time with how the diagnosis was delivered whether it was prenatal or postnatal. The other article reported that a majority of women who received a prenatal diagnosis of Down syndrome and continued the pregnancy felt that they would undergo prenatal screening in future pregnancies for emotional preparation.
I recognize the shortcomings of my quick analysis. No doubt I missed a few articles. PubMed search results vary significantly with the search terms and parameters, and I swear sometimes with the phase of the moon (speaking of which, the upcoming eclipse of the Blood Moon/Harvest Moon September 27-28 should be spectacular, though it may affect PubMed searches that are conducted during the event). Abstracts may not accurately convey the research findings. And of course the search does not include articles published in languages other than English or that were published before September, 2005. So if you know of articles that I missed, please point them out in the Comments section below. Heck, do a PubMed search yourself and see what you come up with. Prove me wrong, please.
If we are going to honestly present prenatal screening as a choice, the choices have to be more than Abort or Carry To Term, unless of course we want to make the uncomfortable acknowledgement that the primary purpose of prenatal screening is to avoid the birth of children with Down syndrome. Pregnancy termination is important for many couples and we should support patients in their reproductive decisions whatever their motivations, but we also need to show a wider range of benefits from prenatal screening.
Ten years and not even a handful of published research about the benefits of prenatal screening for people who have the very condition that is being screened for. Come on, we can do better than this. Our patients deserve better. Shame on us.
* – Okay, I admit that I made up the oath part, but it is so ingrained into our core ethos when we are trained that it may as well be the genetic counseling equivalent of the Hippocratic oath.
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Thank you for this article. I have three children, two are born with Down syndrome. I rejected the screening that was offered due to my age and received a postnatal diagnosis after the birth of my first child 11 years ago. It had been a very enjoyable ‘model’ pregnancy and it came as a big shock to hear my baby had Down syndrome. My husband and I quickly recovered once we learned our initial fears were mostly based on outdated stereotypes and had little to do with the reality of raising a child with Down syndrome. Still, with my second pregnancy I agreed to undergo screening to emotionally prepare myself. It was a misstake. Testing is never neutral. Decisions are not made in a vacuum. My second pregnancy was filled with confrontations and worrying. Despite getting plenty of support from family and friends I felt vulnerable. I could not handle the few negative outspoken opinions that were voiced. Being pregnant complicated matters and I got quite upset and worried a lot about my child’s future placing too much ‘value’ on her prenatal diagnosis in achieving a rewarding life. Before I agreed to testing, in fact before I even became pregnant, my husband and I decided a next baby was welcome too, Down syndrome or not. In hindsight, having a prenatal diagnosis added a lot of stress and pressure during my second pregnancy and really added no positives. Already having one child I knew the reality of parenting a child with Down syndrome. Most women do not. I experienced how added pressure and outdated, negative stereotypes can easliy lead women into making different decisions during pregnancy and extra vulnerable to outside influences. I have written and spoken for years about my personal experiences trying to raise awareness about the limitations and dangers of screening as well as the joys of having children with Down syndrome.
Thank you so much for this important assessment. Another issue we’ve been trying to address for a number of years is the need to develop best practice medical treatment guidelines for expectant parents who receive a prenatal diagnosis of Down syndrome and are preparing for the birth. There really is no standard of care for recommendations about fetal non-stress tests, c-section vs. vaginal delivery, consumption of choline/folate, possible prenatal surgical interventions for associated conditions, etc. For patients who want to undergo prenatal testing to prepare for the birth of a baby with a genetic condition, it seems like there should also be guidelines for assuring the best outcome possible for that pregnancy.
Thank you for this discussion. I am writing from Vancouver, BC where we have a provinical program for prenatal genetic screening and have now collected 5 years of screening data and perinatal outcome. We are in the process of assessing the data in order to develop a medical Guideline on managing a pregnancy with a diagnosis of Down syndrome. We too believe that prenatal screening should also allow for family and medical preparation for the baby’s birth with best possible outcome. http://www.bcprenatalscreening.ca
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