Monday, July 12, 2010

Daily Telegraph & Foxnews articles on cost-effective DS diagnostics

Interesting article in the Telegraph UK recently on DS diagnostics on June 30 using fetal DNA. They believe that the test would cost as low as 30 GBP... Unlikely, but...
Foxnews publishes a follow up story based on the Telegraph article. Now they believe the test will cost $36 and start talking about pro-life concerns....

Original Daily Telegraph article (http://www.telegraph.co.uk/health/healthnews/7862624/Blood-test-for-Downs-syndrome.html):

Researchers hope it will provide a better alternative to invasive tests which give an accurate result, but raise the risk of the mother suffering a miscarriage.

They hope to have the test available within four years and have suggested it may eventually cost as little as £30 per patient.

The new test works by extracting the DNA of the foetus from the mother's blood and screening it for Down's syndrome and other abnormalities.

At present, pregnant women are given the odds on whether they are carrying a child with Down's syndrome, and if they want to know for certain they have to undergo one of two invasive processes; either amniocentesis or chorionic villus sampling. The first involves taking a sample of fluid from around the foetus and can, in some cases, cause a miscarriage even if the woman is carrying a healthy foetus. The second requires taking a fragment of the placenta.

The new test involves the same equipment needed for amniocentesis testing, but uses blood instead of amniotic fluid and is not invasive.

So far, researchers have been able to prove the technique works in principle and have described the results as “promising”. They hope to use the same method to detect other abnormalities in an unborn child’s DNA such as Edwards’ syndrome, which causes structural malformations in the foetus, and Patau’s syndrome, which can result in severe physical and mental impairment and is often fatal.

It could also be used to screen for muscular dystrophy and haemophilia.

Research on the new test began in 2009 and is ongoing. To date it has involved 21 women who have had pregnancy terminations or pre-natal diagnosis and screening procedures. Dr Suzanna Frints, of Maastricht University Medical Centre in the Netherlands, who carried out the research, said she hoped all women in the world would eventually be offered the test.

She said the next phase of development would need to involve more women to establish the accuracy of the test.

“Although we need to test and refine this technique further our results so far are promising,” she said.

“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.” Down’s syndrome is a genetic abnormality that affects around one in 1,000 babies born in the UK – about 750 babies a year – and is the most common cause of learning disability.

Prof Stephen Robson, spokesman for the Royal College of Obstetrics and Gynaecology, said there was an ''enormous research effort’’ going into finding the ''holy grail’’ of a non-invasive test for Down’s syndrome.

Ultrasound scans of the baby at 12 or 13 weeks and again at around 20 weeks will still be necessary to detect other abnormalities in the foetus as well as check age and growth.




Foxnews follow up (http://www.foxnews.com/printer_friendly_story/0,3566,595705,00.html):

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 FoxNews.com.

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 FoxNews.com 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.

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