Prenatal screening panic

Dear Pat,

A dear friend's niece is facing a crisis. She is pregnant at 35 with one little daughter, and the prenatal screening tests are showing but not yet conclusively the possibility of Down Syndrome in this pregnancy. She is understandably overwhelmed. She won't have a complete report for another 10 days. Do you know what resources are available for counseling and helping a woman at this point in her life? I am sure there are many and some will presumably come from the OB-GYN, but if you have any suggestions, they would be welcome.

I have always told my daughters that in any critical situation there is time, as strange as that may sound, to still examine things and think them through. This definitely feels like one of those moments. This woman is utterly overwhelmed and I have tried to offer my friend encouragement to help her slow down, gather information, think carefully and proceed with care. The stakes on either side of her choice are very high.

What can we tell her?

Claudia
______

Yes, you're right: there is time to gather information and think it through. Unfortunately there’s a lot of confusion out there, and it seems that we’ve been much more successful in developing tests than in helping people interpret the results.

First, there’s the confusion about the tests themselves. Your friend should be aware that the prenatal screens used in the first trimester produce data in what is called a "probabilistic" format. In other words, they are not definite; they say that you may have one chance in X number of a particular result.

It's important to know that what the woman receives are odds (sort of like Saturday night in Las Vegas), and that the screens are designed in such a way that they deliver many false positives as well as false negatives. I've had email from women who have been told they had a high probability of a child with DS only to have a child without it, and women who were told their child would likely not have DS and then did have it. In all likelihood, her doctor will recommend followup testing of amnio or CVS, which will offer more definitive (although not infallible) information.

Then there’s the confusion about what a diagnosis of Down syndrome could mean. Everyone is unique, and there’s no way to predict what a person will be able to do by looking at their chromosomes. Recent advances in education and healthcare have brought about marked improvements in outcomes for people with DS these days, according to parent reports. (See "Prenatal tests put Down syndrome in hard focus" in the New York Times.) But national outcomes data is not kept, so it's understandable that medical professionals who have minimal contact with people with DS may well be unaware of progress that parents are seeing.

In a recent survey of mothers of children with DS published in the American Journal of Obstetrics and Gynecology, Dr. Brian Skotko found that parents feel obstetricians and genetic counselors fall short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. (You can access the study here.) Mothers who received a prenatal diagnosis of DS reported that doctors did not give them a balanced view of the possibilities and realities of life with Down syndrome, and did not provide up-to-date information.

With that in mind, your friend might want to contact her local Down syndrome organization. In my experience, predictions by doctors and lists of symptoms in medical textbooks can be very limiting. It’s not until you meet other families and get current information that you begin to see the possibilities. The National Down Syndrome Congress and the National Down Syndrome Society, available on the internet here and here, may be able to help you find a local affiliate.

And if that’s not enough to think about, you should also be aware that OB/GYNs are feeling the bite of rising medical liability insurance costs as courts in some states have been awarding damages in what are being called "wrongful birth" lawsuits. With that kind of backdrop, it's understandable that many doctors are insisting that women get prenatal screening (or sign a waiver declining it) as a way of warding off potential lawsuits. Sadly, this only adds to the level of anxiety that surrounds the topic of prenatal screening.

As I'm typing this, my daughter Margaret is busily reading "Julia and Jacques Cooking at Home" by Julia Child and Jacques Pepin, looking for recipes for tonight's dinner. She has completed high school and a post-secondary culinary arts program, and is excited that she will be moving into her own apartment with a couple of girlfriends (with some help from mom and dad) later this summer.

I guess I'd want to tell your friend that in the final analysis, being a parent to any child is both work and a gift. Like many things in life, it mostly requires that we keep smiling and keep showing up. Having a few good friends also makes a world of difference.

P.S. Here's a link to a story from the Sacramento Bee the other day about a "precocious" third-grader who's performing in her local junior production of "The Music Man." Her name is Katina and she's got DS. The photos are adorable.