This isn’t about Down syndrome

Dec 30, 2012 | Articles, Opinion, Practical Information

There are many prenatal diagnoses beyond Down syndrome.

By Grace O.

Ending a Wanted Pregnancy isn’t about Down syndrome (trisomy 21). This needs to be said, because to hear just about anyone else in the media tell it, all prenatal tests are for diagnosing Down syndrome, and all terminations following poor prenatal diagnosis are because of Down syndrome.

When and how did a single chromosomal disorder become the proverbial poster child for all prenatal diagnoses, all medical issues, all life-threatening disorders and all cognitive disorders?

When I hear people fantasizing about how they would “never” end a pregnancy for poor prenatal diagnosis, invariably they bring up Down syndrome. They’ll trot out someone they know with Down syndrome, or the false stereotype that people with Down syndrome are “always happy,” or the assertion that children with Down syndrome are “the most beautiful.” Predictably, they’ll conclude that Down syndrome children are angels and even wax rhapsodic about how a child “sporting an extra chromosome” is sure to bring nothing but pure joy and enlightenment to the family he or she is born into—as though an extra 21st chromosome is the only one that might be “sported,” and is certain to be both charming and mild.

While that’s debatable, what isn’t debatable is the fact that prenatal tests do not exist solely to diagnose a single chromosomal disorder. Parents receiving a poor prenatal diagnosis, more often than not, receive a diagnosis other than Down syndrome. A diagnosis of Down syndrome accounts for 22% of pregnancy terminations for fetal indications, with the remaining 78% made up of congenital malformations, other chromosomal anomalies, multiples and maternal factors.1

So why all the rhetoric about Down syndrome when it comes to discussions of prenatal testing, disability and pregnancy termination?

I think it’s because a lot of people are lazy thinkers. It takes less effort to view the world as simply black and white, and prenatal test results as either “healthy” or “Down syndrome.” Assuming every prenatal test is for Down syndrome, and every poor prenatal diagnosis is Down syndrome, dispenses with the sticky problem of thinking about other diagnoses that make up the other 78% of these decisions, and what those diagnoses might mean for a given individual or family.

How simple and comfortable it must be for those who presume that categorically the only test parents are concerned about is the one for Down syndrome. And that when they’re relieved by tests coming back clear, they are actually relieved that the baby does not have Down syndrome.  And that when the tests come back positive for a disorder, it’s always Down syndrome.  And that the parents facing a choice to continue or end a wanted pregnancy are always facing a choice of whether or not to bear a child with Down syndrome. And that all abortions based on poor prenatal diagnosis are based on a diagnosis of, all together now, Down syndrome.

Lazy, shallow thinking is how a single diagnosis, Down syndrome, becomes the convenient stand-in for every possible prenatal diagnosis in discussions of termination for medical reasons.

When we hear this, when we read this, we need to remind people that Down syndrome is far from the only diagnosis expectant parents may face. It is not the mildest diagnosis. It is not the most severe. It is not the most common (that distinction would go to congenital malformations of any type). It is not the sole reason for prenatal testing, and the reasons for terminating a wanted pregnancy are numerous and varied.

It’s also not the most common reason that wanted pregnancies are ended. While it’s estimated that 98% of parents receiving any serious prenatal diagnosis will choose to end the pregnancy, the percentage is slightly lower (92%) for parents receiving a prenatal diagnosis of Down syndrome.

Whenever I see the issue of prenatal diagnosis framed by Down syndrome in the media, in blogs, in op-ed pieces, in social media, or in conversations, my heart goes out to every parent who has a child diagnosed with any other major physical or cognitive disability. It goes out to every parent who has ended a wanted pregnancy based on myriad other serious birth defects and diseases. Neural tube defects such as anencephaly, spina bifida, encephalocele and mylomeningocele; brain defects and disorders like ventriculomegaly, holoproencephaly, hydrocephalus or agenesis of the corpus callosum;  severe congenital heart defects including HLHS,  HRHS, coarctication of the aorta, and atrial-ventricular septal defect; genetic disorders such as cystic fibrosis;  failure of organs to develop such as renal agenesis (Potter syndrome) or organs developing outside of the body cavity (omphalocele); body stalk anomalies; amniotic band syndrome; skeletal disorders such as thanatophoric dysplasia and ostegenesis imperfecta type II; chromosomal disorders such as trisomy 13 (Patau’s syndrome), trisomy 18 (Edward’s syndrome), DiGeorge syndrome, triploidy and Fragile X syndrome;  issues related to multiples like twin-to-twin transfusion syndrome, conjoined twins, or fetal reduction for the survival or health of remaining fetuses in cases of supertwins; maternal health indications . . . . the list of possible prenatal diagnoses goes on and on.

Likewise, my heart goes out to all parents who’ve faced a diagnosis of Down syndrome. The laser focus on them and their decisions is just as unfair as the ignoring of parents facing other diagnoses. Just as Down syndrome cannot represent every prenatal diagnosis, parents dealing with a Down syndrome diagnosis cannot and do not represent all parents dealing with a poor prenatal diagnosis. They’ve got enough to deal with without carrying the weight of every serious birth defect known to mankind.

Parents making a decision to end a welcomed pregnancy based on a severe prenatal diagnosis are not making a statement about Down syndrome. This is true even of those who abort following a diagnosis of Down syndrome. An abortion is not a statement. It’s a private choice based on many factors. What those factors are, and how they are weighed, are extremely individual. They differ from diagnosis to diagnosis, from family to family, and from culture to culture.

The key reason for ending a pregnancy we hear most often from bereaved parents who arrive at Ending a Wanted Pregnancy has never been “the baby had Down syndrome.” It has been, almost regardless of diagnosis, “I did not want my child to suffer, live a painful life or experience a painful death.” This is often followed by “We did not want our other children given short shrift, or eventually made responsible for a sibling with special needs.”

These are, at their core, the reasons of parents thinking about their children and trying to make the best decision for them. And that is what this is all about.



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