In January 2007 the American College of Obstetricians and Gynecologists (ACOG) issued new guidelines recommending first-trimester Down syndrome screening for all pregnant women, regardless of age. That means this year, 4 million American women will be offered first-trimester screening for DS, and thousands will receive a positive prenatal diagnosis. This protocol is supposed to increase women’s reproductive freedom, but I fear it does just the opposite.
Down syndrome is the most common genetic disorder, affecting 350,000 Americans. It’s caused by abnormal cell division which results in three 21st chromosomes instead of two. This extra genetic material causes mental retardation and can cause a variety of health issues, including heart defects.
Until recently, screening for DS was available for any pregnant woman, but urged only for those aged 35 and older. It began with a blood test called the triple screen, which used blood chemistry to determine the likelihood of DS and other congenital abnormalities. Performed in the second trimester, the test was notoriously inaccurate, with a false positive rate of 5-8% and a false negative rate of 35-40% (meaning only 80% of DS occurrences were detected). The most the test could offer was an indication whether a woman should consider amniocentesis (aspiration of amniotic fluid to examine the fetus’s chromosomal makeup, which has a 100% accuracy rate).
The new screening procedure for DS is much more accurate, and less invasive. Here’s how it works: the triple screen blood test is given in the first trimester, along with an ultrasound exam called a nuchal translucency test. This exam measures the amount of fluid in a certain part of the embryo’s neck, which can partially indicate the probability of Down syndrome (amazing, huh?)
The combination of these tests can detect 95% of occurrences of Down syndrome, without amniocentesis. There is still a false positive rate of 5%, which means amnio is still indicated in some situations. But amnio itself is less risky now: the spontaneous abortion rate is 1 in 1600 pregnancies.
And now, back to my worries.
A Harvard study by Dr. Brian Skotko has shown that many doctors provide inadequate, incorrect, or overly negative information, might intentionally or unintentionally pressure a woman to terminate, or may be simply incapable of providing hope to parents.
I heard about many such scenarios when I began collecting personal essays for my book about children with Down syndrome. Time and again, women wrote about obstetricians and perinatologists who had no clue about how to support a patient in this situation. Their responses ranged in severity from urging their patients to terminate pregnancy, to simply sending them out the door with no resources in hand other than a list of potential complications.
The current termination rate for Down syndrome pregnancies is 90%. Yes, thatâ€™s 90%.
I don’t fault only doctors for this astounding statistic. But it’s undeniable that they are in a position to influence women’s decisions. And since the ACOG released its new protocol, their potential influence regarding DS pregnancies has dramatically increased. Since screening is now recommended for all pregnant women, regardless of age, an unprecedented number of positive prenatal diagnoses will be determined this year. And that means an unprecedented number of women may face a life-or-death decision with inadequate information.
Moving DS screening from the second trimester to the first has several potential benefits, IMO:
Women who are determined to terminate a DS pregnancy, no matter what, will do so much earlier on. As opposed as I am to abortion, I’d much rather women terminate a 12-week embryo than a 20-week fetus.
Women have more time to decide whether they want to terminate. Previously, many women had only a week to make that decision (depending on their state’s laws). I think a portion of women would opt against termination if they’re not rushed.
Women who refuse to terminate will have more time to adjust to the diagnosis before the birth.
But there’s a very big potential problem here: At 12 weeks, women are not as invested in their pregnancy as they are later on. They haven’t felt fetal movement yet. They’re not showing yet. Of course, many women are attached to the growing life within them from day one (the emotional trauma women typically suffer upon miscarriage proves this point). Still, I think the earlier timing will increase the percentage of abortions.
And that goes for fathers too, on both counts. I’m not suggesting that dads don’t care about their unborn child before they can see or feel evidence of its existence. But I think that 12 weeks into a pregnancy, men are more likely to opt for abortion.
And why am I so concerned about these abortions?
I am opposed to abortion in general. Yet my worry here goes beyond abortion-in-general. Parents who end DS pregnancies want to be parents. They’re simply scared of being parents of a certain kind of child. But this fear, although poignant and strong, may be short-lived.
This I know from experience. When my son Thomas was diagnosed with DS shortly after birth I had many resources to draw upon: my testimony, supportive friends and family, even specific spiritual experiences which helped me prepare for this event. But even so, I was terrified. There were times I wished I could make everything go away–the Down syndrome, yes, but even my son himself. And so, while I don’t think it’s right to terminate a pregnancy because of Down syndrome, I understand the fear that drives parents to do so. It took time for me to feel comfortable with Thomas–time that parents considering abortion don’t have.
Consider this: It takes time to get to know any child. Instinctual, protective love is often there from the get-go, but person-to-person love takes time, interaction, experience. Most weighty problems with our kids don’t come up until we’ve had years and years of bonding with our child–and they’re tough situations even then. What might happen if all children were born with their future problems tattooed on their foreheads? Or worse, if all difficulties could be diagnosed in utero? This baby will have a drug problem. This baby will get cancer as a teenager. This baby will be gay. Would the human race survive?
I don’t deny that Down syndrome brings challenges and outright difficulties. But of the hundreds of parents of children with Down syndrome that I’ve become acquainted with, none of them–NONE of them–would give their child up. Some of them might have done so prenatally, if they had had a diagnosis then. But not now. Not after getting to know their child. The gap between what most parents feel at first, and what they feel later on, is so significant and so widespread that I edited a book about it.
And so, I’m sad. I’m sad that so many parents opt out of having an experience that, in most cases, ends up being beautiful–for the child, and the family. And I’m particularly sad that many parents make this decision after being given scanty, outdated, or overly negative information.
A little knowledge does not bring freedom–it hampers it.
Sens. Brownback and Kennedy have recently reintroduced the Prenatally and Postnatally Diagnosed Conditions Awareness Act–a mouthful of a title for a bill designed to improve the prevailing clinical atmosphere, based on Skotko’s seven-point “prescription” for doctors delivering a diagnosis of Down syndrome.
I hope you’ll contact your representatives and senators, as I will, and tell them you want this bill passed. Remind them that a little knowledge is a dangerous thing–for patients, and for doctors. Yes, parents facing a diagnosis of DS deserve to know what might go wrong with their unborn child–but they also deserve to have that information delivered with the greatest possible accuracy and sensitivity.
They also deserve to know what might go right. But sadly, there’s no bill on the docket for that.
This is my final guest post. Thanks, Nate, for the invitation to blog here. And thanks to all of you for the great discussions!