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ADVANCE Outlook: Lab Professionals

Diagnostic Imperfection Could Land You in Court

Published March 6, 2012 8:50 AM by Valerie Newitt
This ABC News commentary by Kim Carolla tells about parents suing over the prenatal misdiagnosis of their child's Down syndrome. This gives me pause. It begs the question as to whether there is a legal responsibility for diagnostic proclamations.  It seems to me the plantiffs will not prevail. But how much money will be spent by the healthcare system to prove the point that nothing is perfect? Read on...

Couple Sues Over Down Syndrome Misdiagnosis

The parents of a four-year-old Oregon girl with Down syndrome are suing Legacy Health in Portland because they say doctors misdiagnosed their daughter as not having the condition during a prenatal screening.

As a result of doctors' reassurances, according to KATU, the parents decided to continue the pregnancy.  They are suing for $7 million, an amount they say will pay for the girl's care for life.

Court documents were not immediately available, so it's unclear what type of genetic testing the couple underwent.  Genetic counselors say there are different types of screening options, including amniocentesis, chorionic villus sampling, and an ultrasound combined with blood testing.

A blood test with an ultrasound will only predict the risk of developing Down syndrome or other genetic abnormalities, said Virginia Carver, a prenatal genetic counselor at the University of Miami's Miller School of Medicine.

Amniocentesis will determine whether or not a child has Down syndrome and is considered the "gold standard" of testing, Carver said.  That test is typically about 99 percent accurate.

"But even the most accurate test isn't 100 percent accurate," she said.  "There is a small percentage of chance that the testing might not be correct because of human error."

Neither the hospital nor the couple would comment on the case, which is now being heard in a Multnomah County court.

1 comments

This is a very complex situation. I would like to know more about the sample that was collected and  the actual test which was ordered. Then after seeing the report, I would like to see how it was interpreted by the physician and conveyed to the parents.

Genetic counselors are often not medical lab scientists so they might not be entirely conversant with accuracy, precision and the importance of specimen collection and storage for example. Even saying "There is a small chance the test might not be correct because of human error" ignores all the other variables-both preaanalytical and post analytical.

The public very often simplifies issues :"The test result said the fetus had/did not have Down's syndrome."  Interpreting laboratory results  is not as simplistic as that.

Glen McDaniel March 11, 2012 10:27 PM

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