Reported by Ari Shapiro
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Recently, two medical governing bodies, the American College of Obstetrics and Gynecologists and the American College of Medical Genetics, published a set of recommendations. They advised that physicians inform all pregnant women, regardless of age, about the option of receiving prenatal screening for Down syndrome. Previously, the recommendation only applied to women over the age of 35. Now, more and more parents are facing the decision of whether to get such a prenatal screen and then what to do once they get the results.
Crissy Condon and Bill Roslansky are married and live with their 3 children in Woods Hole just down the street from the local aquarium. Three years ago, during Crissy's second pregnancy at the age of 33, she and Bill were reassured by their doctors that the results from their prenatal screen for Down syndrome were negative. Moments after giving birth by C-section, however, they discovered that the diagnosis had been wrong. Their son Matthew had Down syndrome.
"Your life goes up to that moment - boom - and that you know it's just completely, gonna be completely different after that, like my life just got chopped in half was what it felt like. I don't know what that's going to be but I just had this sort of awesome sense that it was forever different."
Bill says that one of the pediatricians, a close family friend, came up to them at that point.
"He just sort of laid it out for me: 'Look out for labeling; he's still your little boy.' And right then, I was - I was started off on a track that I didn't know I was going to go down."
"Forever his birth is just going to be this devastating moment. You know, I can't take that away, which makes me so sad - that, you know, his arrival should have just been a joyous moment and then later I could have been told the news."
Prenatal tests are divided into two categories - diagnostics and screens. Prenatal diagnostics include amniocentesis and chorionic villus sampling or CVS, which require inserting a needle into the womb. Diagnostics are always definitive - they give an absolute yes or no.
But prenatal screens are not definitive. They involve maternal blood tests, ultrasounds or combinations of the two. They only give a probability of having a baby with Down syndrome. For example: a 1 in 200 or a 1 in 2000 chance. Crissy and Bill's physician told them their screen results were negative instead of giving them the actual probability score. But Crissy says that in hindsight she's glad she didn't know the truth.
"The moment that I found out that perhaps we could have known, I got stuck on that. Like had we known, we could have done something different. You don't really think about what that means, what you're really saying by that. But I might not have had the wisdom had I known prenatally, and I'm glad that I didn't know."
Bill has concerns about what these prenatal screens might mean for individuals with Down syndrome.
"Now we sort of think that Down syndrome is like having something right with you cause we've lived with it. And I know we get into the issue of the prenatal testing later and will there be as many of these wonderful people in the world? I sure hope there will be."
Bill says that Matthew has brought joy into his life that he wouldn't have experienced otherwise and that he didn't expect when Matthew was born. Crissy also says Matthew is a blessing. But she's uneasy about parents having to make this kind of choice in the first place.
"Who are we to decide who's a viable human being and who isn't?"
But Bill adds that prenatal tests are important because they force parents to educate themselves.
"I believe in information; I believe in choice. And you can't make a reasonable choice if you're not informed. With the burden of making a choice comes the burden of educating yourself a bit before you make that choice."
Like Crissy and Bill, Janet Lee Cabrera from Stockbridge, Massachusetts had a prenatal screen for Down syndrome. After receiving a relatively high score of 1 in 77, she and her husband Jorge decided to have an amniocentesis, a more definitive test. Their doctor told them the result in person: it was positive. Janet and Jorge decided to continue with the pregnancy anyway and Janet gave birth to Isabella, who has Down syndrome, 3 months ago. Janet says that she didn't want to find out at the moment of birth. She wanted to have time to prepare if the test came back positive.
"It's a very emotional process when someone tells you there's something wrong with your pregnancy. I think at first - the best way to describe it - is a grief; grieving for the child that you're not going to have. Certainly it made the pregnancy harder because it was just loaded emotionally and had a lot of fear with it, like is the baby going to be healthy, is the baby going to be okay? But I'm glad I processed it so that I do feel when Isabella arrived, I was just ready to be right there with her."
This advanced awareness is a common incentive for couples to ask for a prenatal screen. Janet grieved during her pregnancy. Crissy and Bill, however, dealt with the news in the early months of Matthew's life.
As these couples' experiences show, decisions of knowing or not knowing, of receiving or declining a screen, are very personal. Dr. Brian Skotko, a resident physician at Children's Hospital Boston and Boston Medical Center, says it always comes down to two essential questions for couples.
"And that is, 'when does live begin' and 'what forms of life are valuable?' Because every couple will need to decide for themselves: 'What are the answers to those two questions?' And those two answers will guide them on how they want to proceed."
Even couples facing infertility issues who are eager to have kids can be concerned about having a child with Down syndrome. These couples can begin making choices about the qualities of a future child at conception. One option for couples that visit infertility clinics is to have fertilization performed in vitro in the lab. The resulting embryo can be screened and a couple can then decide whether it will be introduced into the mother's womb. Dr. Sherman Silber, director of the Infertility Center at St. Luke's Hospital in St. Louis, says that a lot of infertile couples worry about having children with disabilities.
"There are many infertile couples that say 'look, of course we want a healthy child. Why would we want to impose just another difficulty? It's been challenging enough to be infertile. We would like to do whatever we can to have a baby that doesn't have disabilities.' So if you hear that, then you have to be sensitive to their feelings as well."
But these early embryonic tests raise even more difficult questions about genetic engineering and designing a perfect baby. Parents hope that their children will grow up healthy, independent and free of disabilities. So it's probably not surprising that 80% to 90% of all couples who receive a definitive positive diagnostic for Down syndrome decide to terminate their pregnancy. Their reasons are many and include concerns related to the mental and physical health of their baby or that a child with Down syndrome would introduce a burden to the family.
Individuals with Down syndrome frequently experience behavioral, cognitive and developmental challenges. And they can have heart or gastrointestinal difficulties as well. But Dr. Skotko tells expecting parents that that isn't the whole story.
"What I do tell them is that their child will have talents and their child will be a valued member of society. People with Down syndrome have a whole range of cognitive capacities; they have a whole range of talents, just like we all do."
Crissy Condon and Bill Roslansky of Woods Hole are discovering that this is true about their son Matthew.
"If you measure your success as a parent by whether your child is happy and is exploring their full potential and living up to that potential, then, you know, we just hit a grand slam with Matthew."
"I feel like, in a way, our first act towards our kids should be to accept them for who they are before they've even arrived, you know, they're still just cooking."
The choices offered by these prenatal screens and diagnostics are here to stay. In fact, prenatal screening for more and more physical and mental conditions is inevitable. It will be up to each couple to first, determine whether they want this information and second, if so, whether they'll use it to either prepare for the pregnancy or terminate it. These tests challenge couples to look inwards, and think about what kind of life is worth living and the types of families they hope to create.