The Results are in…


Imagine that you are a mother pregnant with your first child.  You go to the doctor for a routine checkup and, based on an ultrasound image, he tells you that your child has a high risk of having a serious genetic disorder, perhaps Down syndrome.  What do you do?  What can you do?

This news is something that many expectant mothers, including mine, have faced and will continue to face.  Genetic disorders such as Down syndrome are all problems that expectant mothers have the option to test for through prenatal screening.  Until very recently, the only option was an amniocentesis, which, according to the Mayo Clinic, is “a procedure in which amniotic fluid is removed from the uterus for testing or treatment [1].” However, this procedure carries a distinct risk of miscarriage, between 1 in 300 and 1 in 500, as well as other risks to the fetus such as infection transmission [1]. This creates an ethical concern in which the mother has to weigh the choice of finding out early whether or not her child has a genetic disease and whether or not to risk harm to her unborn child.  As such, the procedure is usually only done when there is a significant genetic risk for the baby or a health risk for the mother.

However, let’s say that you have an amniocentesis done and you find out that your child does, in fact, have a disorder.  Now what?  This is the point at which ethical issues really come to the forefront.  Since abortions are legal in the United States, the mother might consider terminating her pregnancy.  Many of the disorders that an amniocentesis tests for, such as Down syndrome, are not life-threatening, but carry other ramifications, adding a level of difficulty to the mother’s choice.  Children with Down syndrome and other genetic disorders often need full-time care throughout their lives, which can be a significant financial and emotional drain on their parents.  Thus, this poses a moral dilemma for the expectant parents.  A recent Time article stated that the majority of women who receive the news that their unborn child has Down syndrome choose to abort their pregnancy, and some studies have found that this number could be as high as 9 out of 10 [2].  In March 2012, the parents of a child born with wrongly undiagnosed Down syndrome won a $2.9 million “wrongful birth” lawsuit against the prenatal testing company, saying that they would have aborted the pregnancy if the test had been positive [3]. Often, the reason for these abortions is the fact that children with Down syndrome and other genetic disorders often need full-time care throughout their lives, thus putting a significant emotional and financial burden on the parents.  On the other side of the debate,, a pro-life website argues that, “The challenge in preventing abortion of Down syndrome fetuses is not convincing mothers that their child is a human being with a right to life, but of assuring expectant mothers there will be support for their children after they are born.” [4] Perhaps greater advocacy for supporting children with genetic conditions is needed to reduce the amount of abortions performed.

An amniocentesis carries strong ethical implications, but now with modern medical techniques making this testing easier, even more issues arise.  Many new noninvasive prenatal testing procedures have been developed recently, such as the MaterniT21 test for Down syndrome, which became available in October of last year.  This test involves taking a sample of the mother’s blood and analyzing the DNA.  Since around 12% of the DNA found in the mother’s blood belongs to her fetus, the test then uses algorithms to determine the percentages of certain chromosomes that should be there.  If the percentage of chromosome 21 is too high, then chances are that the child will have Down syndrome [5]. The implication of this test, and others like it that are currently in use or are being developed, is that eventually we will be able to develop tests that can cheaply and easily sequence a baby’s genome and tell the parents basic genetic information such as sex and genetic mutations carried.

With the advent of these new, noninvasive, easier, and, eventually, cheaper tests comes a whole new set of ethical dilemmas.  These new tests allow parents to potentially find out their child’s sex far earlier than traditional methods, which could lead to an increase in sex-specific abortion.  While this is not a large issue in the United States, it’s a huge one in other countries where culturally, boys are valued more highly than girls.  At a feminist panel at the University of Chicago, Professor Martha Nussbaum said that in some areas of India, 78 women are born for every 100 men as a result of this form of abortion [6].  With the possibility for earlier discovery of more mundane genetic aspects such as gender, the likelihood for prenatal screening to lead to increased levels of abortion is growing stronger every day.

All of these implications were problems that my mother wrestled with when she received the news that it was highly likely that I had Down syndrome.  She decided to undergo an amniocentesis, and she received the news that I was, in fact, normal.  Looking back, however, she believes that she would not have had the test because of the risk that it posed to me, and she is certain that she would not have had an abortion regardless of the test results.  My mother’s experience exemplifies one of the key questions regarding prenatal testing: is it worth it?


1. Mayo Clinic Staff.  2012.  “Amniocentesis.”  Last modified October 10.  Accessed February 26, 2013.
2. Rochman, Bonnie.  2012.  “Will a New Mass. Law Discourage Women from Aborting Fetuses with Down Syndrome?”  Family Matters, June 28.
3. Staff.  2012.  “$2.9M awarded to parents of child with Down Syndrome.” March 9.  Accessed February 26, 2013.
4. Leach, Mark.  2012.  “Do More to Stop Abortion Targeting Kids With Down Syndrome.”  Lifenews, April 5.  Accessed February 26, 2013.
5. Young, Susan.  2013.  “A Brave New World of Prenatal DNA Sequencing.”  MIT Technology Review, January 30.  Accessed February 26, 2013.
6. Catlin, Jon.  2013.  “Feminist panel weighs selective abortion.”  The Chicago Maroon, February  Accessed February 26, 2013.

Katherine Oosterbaan is a first-year student at the University of Chicago majoring in Chemistry and Biology. Follow The Triple Helix Online on Twitter and join us on Facebook.