Boy or girl? A simple test raises ethical concerns

Some fear its use for gender selection

By Deborah Kotz
Globe Staff / August 10, 2011

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Pregnant couples wishing to know the gender of their unborn baby can usually find out during a routine ultrasound performed at around 20 weeks of pregnancy, but a review published yesterday in the Journal of the American Medical Association suggests that a test of the mother’s blood performed at seven weeks may be even more reliable.

The test - which checks fetal cells in the mother’s blood for the Y chromosome present only in male cells - has been available in Europe for years but has not found its way into routine medical practice in the United States. That could change given the new review, which analyzed 57 studies involving a total of 6,500 pregnancies and found that the tests were more than 95 percent accurate at determining gender at seven weeks. By 20 weeks, the accuracy was 99 percent.

But the researchers evaluated use of the test only in medical settings in foreign countries, not direct-to-consumer procedures, which are currently the only way for pregnant women to get the test in the United States.

Given the validation of the test’s accuracy, specialists say it’s only a matter of time before doctors begin offering it here - and that could raise ethical concerns if couples terminate a pregnancy when the fetus is not the gender of their choice. In some countries, including India and China, the percentage of girl babies has dropped precipitously in recent years, probably because of gender selection in favor of boys.

“If couples can get the results earlier, that makes abortion less burdensome,’’ said Arthur Caplan, a bioethicist at the University of Pennsylvania. “A woman can take the test, and then take pills to terminate the pregnancy in the privacy of her home when it’s that early on. I would say gender selection is a bad reason to have an abortion, which is tough for a pro-choicer like me to admit.’’

The blood test works by detecting fragments of fetal DNA that float through the mother’s bloodstream. Scientists can identify gender by looking for markers of the Y chromosome and can assume the fetus is a girl if none are found.

While some American couples use ultrasound results as a reason to terminate a healthy pregnancy, the imaging test is not as accurate. Studies suggest it is accurate about 86 percent of the time from 11 to 14 weeks, and about 90 percent of the time beyond that.

More invasive techniques, such as amniocentesis - which involves drawing a sample of amniotic fluid via a needle - are nearly 100 percent reliable, but pose a small risk of miscarriage and can’t be performed early in pregnancy.

The blood test could provide some medical benefits, said study coauthor Dr. Diana Bianchi, a reproductive geneticist at the Mother Infant Research Institute at Tufts Medical Center. It could help identify sex chromosome-linked conditions such as hemophilia, which affects only boys.

“In Britain, researchers have shown that using the Y-DNA test led to a reduction in amniocentesis and other invasive testing,’’ she said.

At the moment, testing is offered only through websites such as, which charges $179 for the basic kit that is mailed directly to women and the testing of the blood sample that is mailed back. Rush results can be had for $329.

“We have a 95 percent accuracy for our test, which we base on the number of customers applying for money-back guarantees if the test didn’t accurately predict their baby’s gender,’’ said Terry Carmichael, executive vice president at Consumer Genetics, which manufacturers the Pink or Blue test.

Unfortunately, there is no way for consumers to know for certain whether this test or others live up to their claims because - like other genetic tests sold directly to patients online - they are not regulated by the Food and Drug Administration.

Several years ago, Lowell-based Acu-Gen Laboratories promised its blood test was “99.9 percent accurate’’ in detecting a fetus’s sex at five weeks and offered refunds to anyone who received wrong results. The company went bankrupt in 2009 after hundreds of women filed suit, saying they didn’t get refunds.

Deborah Kotz can be reached at

Early accuracy
Consumer Genetics Inc. a Santa Clara, Calif.-based company, sells a blood test called “Pink or Blue’’ online for $25 plus $265 or more for laboratory testing. It boasts of 95 percent accuracy, using a lab technique its scientists developed from the type of testing evaluated in the new analysis, said Terry Carmichael, the company’s executive vice president. Carmichael said the company sells more than 1,000 kits a year.
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