Fetal Genetic Testing

June 21st, 2004

Posted by: Roger Pielke, Jr.

Yesterday, the New York Times ran a long and interesting story about the technology of fetal genetic testing. The technology raises some questions about science policy in the context of the individual as well as society. Here is an excerpt:

“Fetal genetic tests are now routinely used to diagnose diseases as well known as cystic fibrosis and as obscure as fragile X, a form of mental retardation. High-resolution sonograms can detect life-threatening defects like brain cysts as well as treatable conditions like a small hole in the heart or a cleft palate sooner and more reliably than previous generations of the technology. And the risk of Down syndrome, one of the most common birth defects, can be assessed in the first trimester rather than waiting for a second-trimester blood test or amniocentesis. Most couples say they are both profoundly grateful for the new information and hugely burdened by the choices it forces them to make. The availability of tests earlier in pregnancy mean that if they opt for an abortion it can be safer and less public. But first they must decide: What defect, if any, is reason enough to end a pregnancy that was very much wanted? Shortened limbs that could be partly treated with growth hormones? What about a life expectancy of only a few months? What about 30 years? Or a 20 percent chance of mental retardation?”

One woman quoted in the story said of the decision she faced whether or not to terminate her pregnancy, “It was never even anything I had considered until I had the bad results.” Science and technology as they often do create decision situations where before there were apparently none. This is, for example, what happened in the early 1970s when scientists discovered the potential for ozone depletion: It was never anything policy members considered until they had the bad results.

For some the issue quickly becomes more than simply a matter of personal choice:


“Some doctors, too, say they are troubled by what sometimes seems like a slippery slope from prenatal science to eugenics. The problem, though, is where to draw the line. Dr. Jonathan Lanzkowsky, an obstetrician affiliated with Mount Sinai Hospital in Manhattan, described one woman who had been born with an extra finger, which was surgically removed when she was a child. Her children have a 50-50 chance of inheriting the condition, but she is determined not to let that happen. Detecting the extra digit through early ultrasounds, she has terminated two pregnancies so far, despite doctors’ efforts to persuade her to do otherwise, Dr. Lanzkowsky said. Other doctors said that they had seen couples terminate pregnancies for poor vision, whose effect they had witnessed on a family member, or a cleft palate, which they worried would affect the quality of their child’s life. In an extreme case, Dr. Mark Engelbert, an obstetrician/gynecologist on the Upper East Side of Manhattan, said he had performed an abortion for a woman who had three girls and wanted a boy.”

And as in most cases where innovations in science and technology force new decisions, in the context of fetal genetic tests the decisions made by individuals and society won’t be found in science and technology, but in morals, values, religion, etc.

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