Prenatal Testing for Down Syndrome

Author: Children's Hospital Boston - Contact: childrenshospital.org
Published: 2009/09/14 - Updated: 2020/06/12
Peer-Reviewed: N/A
On This Page: Summary - Main Article - About/Author

Synopsis: Prenatal tests for Down syndrome promising to be safer more accurate and available to women earlier in pregnancy. More women will be going through the testing process, which could lead to a lot of difficult, uncomfortable conversations between physicians and expectant parents. Assemble information packets that give accurate, current information on Down syndrome and give them to all expectant parents who receive a definitive diagnosis.

advertisement

Main Digest

New article examines the influence of current tests on birth rates, assesses forthcoming tests, and calls for the establishment of medical and educational policies.

Understanding the Implications of Prenatal Testing for Down Syndrome

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 dialog 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:

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 is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 500 scientists, including eight members of the National Academy of Sciences, 11 members of the Institute of Medicine and 12 members of the Howard Hughes Medical Institute comprise Children's research community. Founded as a 20-bed hospital for children, Children's Hospital Boston today is a 396-bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Children's also is the primary pediatric teaching affiliate of Harvard Medical School.

Attribution/Source(s):

This quality-reviewed article relating to our Cognitive Disabilities section was selected for publishing by the editors of Disabled World due to its likely interest to our disability community readers. Though the content may have been edited for style, clarity, or length, the article "Prenatal Testing for Down Syndrome" was originally written by Children's Hospital Boston, and published by Disabled-World.com on 2009/09/14 (Updated: 2020/06/12). Should you require further information or clarification, Children's Hospital Boston can be contacted at childrenshospital.org. Disabled World makes no warranties or representations in connection therewith.

advertisement

Discover Related Topics

Share This Information To:
𝕏.com Facebook Reddit

Page Information, Citing and Disclaimer

Disabled World is an independent disability community founded in 2004 to provide disability news and information to people with disabilities, seniors, their family and/or carers. See our homepage for informative reviews, exclusive stories and how-tos. You can connect with us on social media such as X.com and our Facebook page.

Permalink: <a href="https://www.disabled-world.com/disability/types/cognitive/prenatal-testing-down-syndrome.php">Prenatal Testing for Down Syndrome</a>

Cite This Page (APA): Children's Hospital Boston. (2009, September 14). Prenatal Testing for Down Syndrome. Disabled World. Retrieved November 29, 2023 from www.disabled-world.com/disability/types/cognitive/prenatal-testing-down-syndrome.php

Disabled World provides general information only. Materials presented are never meant to substitute for qualified professional medical care. Any 3rd party offering or advertising does not constitute an endorsement.