Cheap Blood Test Could Detect Disorders in Fetus

A simple blood test may one day become a safer alternative for checking if an unborn baby has Down syndrome or other disorders, the Daily Telegraph reported.

The test, which takes a blood sample from a pregnant woman to examine the DNA of the fetus, would cost as little as $36, and could be available within four years, according to the report.

It would provide an inexpensive and much less invasive way to detect many genetic abnormalities in fetuses, but it also raises concerns among pro-life advocates who say it could result in more abortions.

“If it might more conclusively prevent false positives, it might have some benefit, but it will also likely lead to more abortions of children with disabilities,” Mailee Smith, staff counsel for Americans United for Life, told

The tests currently used to determine if an unborn child has Down syndrome are both quite invasive. One is an amniocentesis, where doctors extract amniotic fluid from around the fetus. The other is a procedure known as chorionic villus sampling, which involves the removal of a small piece of placenta tissue. Researchers hope the new test will become a safer alternative to the current procedures, which are highly accurate, but raise the mother’s risk of suffering a miscarriage.

Dr. Brian Skotko, a physician at the Children's Hospital Boston who is on the board of directors of the National Down Syndrome Society, told that many doctors aren't adequately trained to counsel women on having children with Down syndrome, and worse, some who diagnose an expecting couple's child with Down syndrome encourage them to terminate the pregnancy.

"The age is swiftly coming where not all possible technologic advances may bring welcomed change. Parents who have children with Down syndrome have already found much richness in life with an extra chromosome," Skotko wrote in an article published in the BMJ in October 2009.

Dr. Suzanna Frints, of Maastricht University Medical Center in the Netherlands, began the ongoing research with her team in 2009, and claims that their technique is 80 percent reliable. Her team has proven their technique works by using the mother’s blood to identify the Y chromosome from the fetus.

Twenty-one women who have either had abortions or underwent amniocentesis, or other prenatal screening procedure, have participated in the research. But to establish the accuracy of the test, Frints said the next phase of development would need to involve more women.

Frints described the results as “promising,” and hopes that their technique will be able to screen for other abnormalities, like muscular dystrophy, hemophilia, Edwards syndrome and Patau syndrome.

“When we succeed in developing the procedure for use in maternal blood, we will be able to offer a safe, cheap, fast, reliable and accurate non-invasive test, which will be of immediate benefit to pregnant women, young and old, all over the world,” Frints said.

Professor Stephen Robson, spokesman for the Royal College of Obstetrics and Gynecology, considers a non-invasive test for detecting Down syndrome the “holy grail” and said there was an ''enormous research effort’’ behind it.

Down syndrome is a genetic abnormality that affects around 1 in 800 babies born in the U.S., and is the most common genetic cause of severe learning disability.

Click here to read more from the Daily Telegraph.