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Fetal genetic testing: A troubling technology

Scientists have been making rapid progress in identifying which of your genetic traits may be associated with the risk of getting a wide variety of diseases. That’s a good thing.

They have also been making rapid progress in getting access to genetic material during pregnancy, according to a new report. That means expectant parents may be able to accurately tell what sex the baby will be as early as seven weeks into a pregnancy. That’s troubling.

Story: Blood test reveals fetus' sex as early as 7 weeks

By isolating cells from a fetus using a blood sample taken from the mother, doctors say they will be able to reduce the need for more dangerous forms of prenatal testing, such as amniocentesis, which uses a needle to get fluid from the amniotic sac, or sonograms, which are not reliable early in pregnancy. The researchers from the National Institutes of Health reviewed and analyzed previous studies to show that fetal DNA testing can correctly identify the sex of a fetus at five to seven weeks with as high as 99 percent accuracy.

The availability of accurate sex determination at seven weeks of pregnancy “… can be useful in clinical settings for early detection of fetuses at risk for sex-linked disorders requiring follow-up testing,” according to the report published Tuesday in the Journal of the American Medical Association.

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If they think that is the only result these findings will produce, they are dreaming.

Few will argue that finding out early in a pregnancy if a male fetus has a fatal form of muscular dystrophy or Rett Syndrome -- a nervous disorder that causes males to die in utero -- would be beneficial to many families. But outside of that kind of testing, everything about the early testing of fetal genes for sex identification spells ethical trouble. And, as the techniques for the analysis of fetal DNA become more and more accurate and affordable, it is likely to reshape the debate over abortion.

There are certainly some Americans who have a keen interest in knowing the gender of their baby because they want a baby of a particular gender. And there are plenty of people around the world who are eager to have boys rather than girls. There are already thriving industries in old-fashioned genetic testing purely for sex selection.

This new cheaper, safer and quicker form of sex selection is likely to become a modest business in the U.S. and a big business in India, China and other parts of the world.

Should genetic testing -- in combination with abortion -- purely for sex selection be part of medicine? Is it ethical to end a pregnancy because you don’t want a girl? The answer to both questions is "no." Being male or female is not a disease or a disorder. Wanting a boy is a preference, but it is not one that justifies ending a pregnancy. 

But ending a pregnancy because you don’t want a girl may be legal in the U.S., but that does not make it an ethical choice. As hard as it may be for some people to comprehend, there can be good and bad reasons to end a pregnancy. Gender preference is a bad reason.

That said, ethical arguments may not win the day. I predict early fetal testing for sex selection will spread around the world quickly because there is an abundance of preference for sons and plenty of money to be made indulging it.

The early determination of fetal sex is not going to be the end of genetic testing. Paternity testing will be close behind. 

A sample of fetal DNA matched against mom’s and a surreptitious sample scraped off a toothbrush, glass or cigarette butt of the possible dad and you quickly have the recipe for a lot of genetic testing of fetal cells. Add to paternity testing the many doctors and companies now testing adults who will be eager to let you for know for a fee if your 7-week-old fetus is prone to early onset breast, colon or ovarian cancer, Down syndrome, cystic fibrosis, sickle cell disease, dwarfism, deafness, Alzheimer’s and, well, you get the picture. 

What is even more remarkable is that it will not be long before such early genetic testing may not require a visit to a doctor at all.  A scenario where a pregnant woman gets a kit from an an online ad, sends her blood off to a lab, fetal cells are isolated and analyzed there, and she gets the test result back. She can then take a pill to induce an abortion.

We are used to the abortion clinic serving as ground zero in the battle over abortion. That may not be true for long. The combination of fetal testing very early in pregnancy and abortions that can be caused by a pill mean that the future battleground over abortion will be a woman’s conscience.

Those who see today’s report of the accuracy of sex identification as of importance only to a few families at high risk of having a child with a sex-linked deadly disease are ignoring what promises to soon be a very morally contentious technology.

Arthur Caplan, Ph.D., is director of the Center for Bioethics at the University of Pennsylvania.