Prenatal Screening
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PRENATAL SCREENING BY DR. LEN LESHIN
IN THE NEWS - Nov. 25th, 2007
Check out the Arizona Republic FRONT PAGE article about Down syndrome screening. The Arizona Republic interviewed Jason Turner a few months ago for the story. This Sunday's edition of the Arizona Republic, Adam Turner has his picture on the front page and another on page 6 with the rest of the article.
You can also see the article online with the below link. If that does not work then log on the www.azcentral.com and you will see the article link "Gene tests alarm Down syndrome families".
Here is the link:
http://www.azcentral.com/business/articles/1125biz-genetest1125.html
Jason Turner, MD
DSNetwork Medical Director"
Dispelling the Prejudice and Fears of Down Syndrome.
BY JASON TURNER, MD
"A commentary by the American College of Obstetricians and Gynecologists on the new recommendation for prenatal screening for Down syndrome for all women.
The role of a genetic counselor is more important than ever. A recent article in the British publication, The Economist, quoted one genetic counselor in our local community of Phoenix. I am not sure why a British publication would publish an unnamed source from our local community, but the article stated, "Asked what his goal was, one genetic counselor in Phoenix replies: "to catch as many Down’s babies" as he can.” The Newsweek columnist George F. Will labeled it a "search and destroy mission" for a category of citizens that includes his adult son, Jon Will. The Prenatally and Postnatally Diagnosed Conditions Awareness Act was reintroduced by Senators Edward Kennedy (D-Mass) and Sam Brownback (R-Kansas) on July 18, 2007. The bill was originally introduced in 2005 after MDSC Board member Brian Skotko MD, MPP, published research paper on how mothers received prenatal and postnatal diagnoses of Down syndrome in the American Journal of Obstetrics and Gynecology and Pediatrics. Skotko's study found that obstetricians and genetic counselors are often insufficient in providing accurate, up-to-date information when delivering a prenatal or postnatal diagnosis of Down syndrome to expectant mothers.
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As a physician, human rights advocate, and the father of a child with Down syndrome, I am very concerned about the societal views of the new recommendation by ACOG regarding prenatal testing for Down syndrome. Basically, in January of 2007 the new recommendation stated, "All pregnant women, regardless of their age, should be offered screening for Down Syndrome." Over the last 20 years, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome. On his personal website, Dr. Leshin states, "Because the risk of having a baby with Down syndrome rose above the 1 in 250 mark at the 35th birthday for women, it had become the standard of care to offer the screen for Down syndrome to all mothers 35 years and older. At the beginning of 2007, the American College of Obstetricians and Gynecologists stated that all women regardless of age should be offered the opportunity for screening. Over the last two decades, the screening was done between the 15th and 20th week of gestation, but it was most accurate between the 16th week and the 18th week. However, research in the last 6 years has concentrated on finding a way to screen in the first trimester to enable parents to have time to make choices when given the results of a positive screen test. The first trimester screen now uses a combination of the maternal age, the serum quadruple screen, the serum marker PAPP-A, and an ultrasound measurement of the back of the neck of the fetus. When used correctly, this first trimester screen has a detection rate of approximately 95% of all cases of Down syndrome, with a false-positive rate of 5%."
It is documented from multiple sources that about 9 of 10 pregnancies that have a prenatal screening diagnosis of high risk of Down syndrome end in termination of the pregnancy. I am afraid this topic will be overlooked and be lumped together with the controversy of abortion, genetic engineering, and medical ethics and will be considered another "pro-life" or "pro-choice" opinion piece. I am not a victim or a hero for raising a child with Down syndrome. I am in no way denying the personal rights we all have to voice our opinion and I am not asking everyone to have the same opinion as myself. This is not a "pro-life" or "pro-choice" piece, but is voiced because of the concern about educating women about their options. This issue is much deeper and infiltrates the ideals of society.
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Down syndrome is a random genetic condition that results in the chromosomal abnormality of the 21st gene. It occurs in approximately 1/733 births. People with Down syndrome can be valued and contributing members of our society. They can accomplish amazing things. Some members of our society are uninformed about the possibilities of people with Down syndrome and can place prejudice, bias, and fears upon this condition. Some people may say that people with Down syndrome are a financial burden on society and this is based upon placing the cost and benefit ratio upon human life. Our culture is slowly improving with the acceptance of racial and cultural diversity, but there is more work to be done. I feel that we have even further to go with acceptance of genetic and disability diversity. No child is the same and no child is "normal" and neither are we. A person's IQ is not a prediction to their value to society and is absolutely not a prediction of someone’s quality of life.
Our highly valued obstetricians are already facing a national crisis. They are pressured by increasing malpractice costs and the fear of litigation for every child that is not considered "normal." There is constant pressure to produce "good outcome" pregnancies. My own personal opinion is that it can be very difficult in a busy OB/GYN practice to be able to spend the time to fully educate all women on their decisions about the outcome of this testing. I know some obstetricians follow the guidelines very well and fully educate patients and provide genetic counseling resources, but some may not. I implore anyone with a prenatal test that shows a high risk for Down syndrome to fully educate themselves and speak with a certified genetic counselor and your obstetrician before making any decisions. I agree with the position statement by the National Down Syndrome Society. A portion of it includes the statement, "the decision whether to undergo prenatal testing must be solely that of the pregnant woman. All forms of testing for Down syndrome should remain strictly confidential and voluntary. All women, regardless of age, reproductive history or disability status must be given the absolute right to continue pregnancy after prenatal diagnosis."
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Why does our Down syndrome community care? Because we love our children and we want to protect them and be an advocate for them just like any parent. We also want to support other parents and potential parents of Down syndrome. Down syndrome is not something we should try to "catch" to rid the world of babies with Down syndrome. People with disabilities teach the community about compassion and unselfishness. I admit that I am bias and I worry about my son growing up in a quickly shrinking community of Down syndrome. With that comes less advocacy, less support and less research dollars. So I admit, I want to fight for the rights of my son like any parent would do for their children. I am not pushing anyone to be "pro-life" or "pro-choice", that is each of your personal decisions and may encompass many complicated situations and decisions. But, I do think that as a Down syndrome community, we need to provide support and accurate information for those going thru a difficult decision regarding prenatal testing. I feel that the role of the genetic counselor is pivotal in helping families obtain accurate information presented in a compassionate and caring way.
My opinions are my own and do not necessarily reflect all the members of the Down syndrome community. If you would like more information then please contact the DSNetwork, 480-759-9150.
Jason Turner, M.D.
Medical Director of DSNetwork or Arizona"
For more information, please call: 480.759.9150.
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