 |
|
Understanding the implications of prenatal testing for Down syndrome
September 14, 2009New article examines the influence of current tests on birth rates, assesses forthcoming tests, and calls for the establishment of medical and educational policies
Boston, Mass. - With new prenatal tests for Down syndrome on the horizon promising to be safer, more accurate, and available to women earlier in pregnancy, the medical community must come together and engage in dialogue about the impact of existing and expected tests, argues a new leading article published Online First by Archives of Disease in Childhood. Authored by Brian Skotko, MD, MPP, clinical genetics fellow at Children's Hospital Boston, the article shows a steady decrease in the number of babies being born with Down syndrome since the introduction of prenatal testing and poses the question: "As new tests become available, will babies with Down syndrome slowly disappear?"
Research reviewed by Skotko showed a 15% decrease in births of babies with Down syndrome between 1989 and 2005 in the United States. In the absence of prenatal testing, researchers would have anticipated the opposite - a 34% increase in births - due to the trend of women waiting longer to have children; known to increase the chances of having a baby with Down syndrome.
Currently, expectant women have two options if they would like to receive a definitive diagnosis of Down syndrome - chorionic villus sampling (CVS) and amniocentesis - both of which are invasive and carry a risk, however small, of causing a spontaneous miscarriage. New tests expected to be introduced next year will offer a simple blood test that poses no risk to the fetus and delivers a definitive diagnosis of one or more of the genetic variants of Down syndrome - trisomy 21, translocation, or mosaicism.
Prior research conducted by Skotko found that expectant mothers who received a prenatal diagnosis felt their physicians provided them with incomplete, inaccurate, and oftentimes offensive information about the condition. Other studies have shown physicians themselves feeling unprepared and uninformed to deliver a diagnosis.
"Unless improvements are made prior to the arrival of new prenatal tests, a true collision is on its way," says Skotko. "More women will be going through the testing process, which could lead to a lot of difficult, uncomfortable conversations between physicians and expectant parents."
In anticipation of these tests, which could make Down syndrome the first genetic condition to be definitively diagnosed in the first trimester on a population basis, Skotko calls on the medical community to:
* Develop guidelines around how health professionals should deliver a diagnosis of Down syndrome.
* Assemble information packets that give accurate, current information on Down syndrome and give them to all expectant parents who receive a definitive diagnosis.
* Create a standardized training program for all healthcare professionals involved in prenatal care and for volunteer parents - such as those involved in First Call programs - to complete.
* Train not only the doctors of today but the doctors of tomorrow. Medical students, nurses and genetic counselors should be educated beyond the textbook and have interactions with people who have Down syndrome so that they may better understand the realities of living with the disorder.
Recently, the National Down Syndrome Society and the National Down Syndrome Congress announced the selection of a booklet ("Understanding a Prenatal Down Syndrome Diagnosis") as a gold standard packet of information about Down syndrome, fulfilling Skotko's second recommendation.
"The ultimate goal is to ensure families receive accurate, up-to-date, information so they are well-informed and can make decisions that are right for them," says Skotko.
Children's Hospital Boston
Currently, expectant women have two options if they would like to receive a definitive diagnosis of Down syndrome - chorionic villus sampling (CVS) and amniocentesis - both of which are invasive and carry a risk, however small, of causing a spontaneous miscarriage. New tests expected to be introduced next year will offer a simple blood test that poses no risk to the fetus and delivers a definitive diagnosis of one or more of the genetic variants of Down syndrome - trisomy 21, translocation, or mosaicism.
Prior research conducted by Skotko found that expectant mothers who received a prenatal diagnosis felt their physicians provided them with incomplete, inaccurate, and oftentimes offensive information about the condition. Other studies have shown physicians themselves feeling unprepared and uninformed to deliver a diagnosis.
"Unless improvements are made prior to the arrival of new prenatal tests, a true collision is on its way," says Skotko. "More women will be going through the testing process, which could lead to a lot of difficult, uncomfortable conversations between physicians and expectant parents."
In anticipation of these tests, which could make Down syndrome the first genetic condition to be definitively diagnosed in the first trimester on a population basis, Skotko calls on the medical community to:
* Develop guidelines around how health professionals should deliver a diagnosis of Down syndrome.
* Assemble information packets that give accurate, current information on Down syndrome and give them to all expectant parents who receive a definitive diagnosis.
* Create a standardized training program for all healthcare professionals involved in prenatal care and for volunteer parents - such as those involved in First Call programs - to complete.
* Train not only the doctors of today but the doctors of tomorrow. Medical students, nurses and genetic counselors should be educated beyond the textbook and have interactions with people who have Down syndrome so that they may better understand the realities of living with the disorder.
Recently, the National Down Syndrome Society and the National Down Syndrome Congress announced the selection of a booklet ("Understanding a Prenatal Down Syndrome Diagnosis") as a gold standard packet of information about Down syndrome, fulfilling Skotko's second recommendation.
"The ultimate goal is to ensure families receive accurate, up-to-date, information so they are well-informed and can make decisions that are right for them," says Skotko.
Children's Hospital Boston
Prenatal Testing Current Events and Prenatal Testing News RSSMutations in gene linked to ciliopathies
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies.
Reduced ovarian reserve associated with increased risk of trisomic pregnancy
Women who have a diminished number of eggs in their ovaries, either because they are older or for some other reason such as ovarian surgery, may be more at risk of a trisomic pregnancy than women with an ovarian reserve within the normal, fertile range.
Smoking during pregnancy fosters aggression in children
Women who smoke during pregnancy risk delivering aggressive kids according to a new Canada-Netherlands study published in the journal Development and Psychopathology. While previous studies have shown that smoking during gestation causes low birth weight, this research shows mothers who light up during pregnancy can predispose their offspring to an additional risk: violent behaviour.
Microarray analysis improves prenatal diagnosis
A "chip" or array that can quickly detect disorders such as Down syndrome or other diseases associated with chromosomal abnormalities proved an effective tool in prenatal diagnosis in a series of 300 cases at Baylor College of Medicine, said researchers in a report that appears in the current issue of the journal Prenatal Diagnosis.
New blood test for Down syndrome
Howard Hughes Medical Institute researchers have developed a new prenatal blood test that accurately detected Down syndrome and two other serious chromosomal defects in a small study of 18 pregnant women.
Involving partners of pregnant women in Africa to improve AIDS prevention
According to the World Health Organization, nearly three-quarters of the world's 40 million human immunodeficiency virus (HIV)-infected people are living in Sub-Saharan Africa.
New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy
A new genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystrophin gene--is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.
Severe mental retardation gene mutation identified
Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.
New screening test proves earlier, more accurate predictor for Down syndrome
A new study from Columbia University Medical Center researchers at NewYork-Presbyterian Hospital/Columbia of more than 38,000 pregnant women at 15 U.S. centers demonstrates the high accuracy of non-invasive screening for Down syndrome.
Study calls for end to age thresholds for prenatal genetic testing (pp 258, 276)
US research in this week's issue of THE LANCET challenges the health policies common in many countries in relation to maternal age and prenatal testing for chromosomal abnormalities such as Down's syndrome. Authors of the research conclude that current evidence does not support the conventional view that the balance between health risks and cost make prenatal testing appropriate only for women aged 35 years or over. Prenatal testing guidelines recommend offering amniocentesis or chorionic villus sampling (analysis of placenta cells) to women aged 35 years or older, or who have been found by screening to be at a similarly high risk of giving birth to an infant with Down's syndrome or another
More Prenatal Testing Current Events and Prenatal Testing News Articles
 |
Prenatal Testing and Disability Rights (Hastings Center Studies in Ethics) by Erik Parens (Editor), Adrienne Asch (Editor) This collection of essays takes up the issues surrounding prenatal testing and selective abortion. Both the medical and broader communities view such tests as largely beneficial but this book also reflects the objections raised by the disability rights community. |
 |
Second Trimester Also With: Terri Randall Productions (Producer) |
|
AFP testing deemed expensive, obsolete.(Women's Health)(alpha fetoprotein): An article from: Family Practice News by Damian McNamara (Author) This digital document is an article from Family Practice News, published by Thomson Gale on April 1, 2006. The length of the article is 466 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser. Citation Details Title: AFP testing deemed expensive, obsolete.(Women's Health)(alpha fetoprotein) Author: Damian McNamara Publication: Family Practice News (Magazine/Journal) Date: April 1, 2006 Publisher: Thomson Gale Volume: 36 Issue: 7 Page: 37(1) Distributed by Thomson... | |
 |
Keep Safe DNA Storage Kit for Families * US Patented *Free Priority Mail Shipping by ICS Inc. IDENTIFY A MISSING CHILD; MEDICAL HISTORY EVALUATION; DECEASED ANCESTOR OR FAMILY IDENTIFICATION; PATERNITY IDENTIFICATION; PRENATAL TESTING COMPARISONS; HEREDITARY DISEASES. The Human Genome contains your history of evolution. It contains 23 pairs of Chromosomes except the gender Chromosome, Where females contain 2 X chromosomes and a male contains an X and a Y chromosome. Each chromosome contains Genes; somewhere between 30 and 60 thousand of them. DNA is contained in each Gene and therefore in EVERY cell of the body. (DNA stands for Deoxyribo-Nucleic-Acid) |
 |
The ABC's of Prenatal Diagnosis: A Guide To Pregnancy Testing and Issues (Revised Edition) by Keith Wexler (Author), Laurie Wexler (Author) |
|
Considered Choices?: The New Genetics, Prenatal Testing and People with Learning Disabilities by Linda Ward (Author) | |
 |
Before Birth: Prenatal Testing for Genetic Disease by Elena Nightingale (Author), Melissa Goodman (Author) Prospective parents are given the guidance needed to make informed choices about whether or not to undergo prenatal testing and, if they elect to do so, how best to use the results. Illustrated. |
|
Risk, autonomy, and responsibility: informed consent for prenatal testing.(Special Supplement)(Public Priorities for Genetic Services): An article from: The Hastings Center Report by Nancy Press (Author), C.H. Browner (Author) This digital document is an article from The Hastings Center Report, published by Hastings Center on May 1, 1995. The length of the article is 3741 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser. Citation Details Title: Risk, autonomy, and responsibility: informed consent for prenatal testing.(Special Supplement)(Public Priorities for Genetic Services) Author: Nancy Press Publication: The Hastings Center Report (Refereed) Date: May 1, 1995 Publisher: Hastings Center Volume: v25 Issue: n3 Page: pS9(4) Distributed by Thomson... | |
|
Women and Prenatal Testing: Facing the Challenges of Genetic Technology (Women and Health) by Karen H. Rothenberg (Author), Elizabeth J. Thomson (Editor) | |
 |
Risk, Age and Pregnancy: A Case Study of Prenatal Genetic Screening and Testing by Bob Heyman (Author), Mette Henriksen (Author) Risk, Age and Pregnancy provides an in-depth case study of the operation of a prenatal genetic screening and testing system. The authors integrate observational, qualitative interview and survey data, exploring the perspectives of pregnant women, hospital doctors and midwives, and the communication between women and the hospital doctors who advise them. The book offers insights relevant to those concerned with the rapidly growing field of genetic risk management. |
| © 2009 BrightSurf.com |