Navigation Links
Understanding the implications of prenatal testing for Down syndrome
Date:9/14/2009

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.


'/>"/>

Contact: Keri Stedman
keri.stedman@childrens.harvard.edu
617-919-3114
Children's Hospital Boston
Source:Eurekalert

Related medicine news :

1. New research strategy for understanding drug resistance in leukemia
2. MRC scientists advance understanding of cell death
3. The National Health Care Anti-Fraud Association Signs Memorandum of Understanding With Canadian and European Anti-Fraud Organizations
4. Understanding the process of homosexual identity formation among Asian and Pacific Islander youth
5. Cord Blood Awareness Month: Understanding Still Low, Despite Medical Advancements
6. Blue Shield of California Makes Understanding Health Care Issues Easier for Consumers
7. Innovative New Wellness and Nutrition Program Leverages Latest Understanding of Relationship Between Diet and Genes
8. Hospitalized patients need better understanding of CPR and outcomes
9. Guardian Survey Reveals Widespread Lack of Understanding of Health Savings Accounts
10. Study further expands understanding of leptins role in brain neurocircuitry
11. New tool to improve patient understanding of long-acting injectable antipsychotic therapies (LAT) unveiled in April issue of Psychiatry 2009
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/7/2016)... ... 2016 , ... It is vital for any lab to secure funding, and ... team at Beckman Coulter has designed Kaluza, templates with advanced analytical tools to streamline ... operate in a GLP (Good Laboratory Practice) fashion. , With features designed to simplify ...
(Date:12/7/2016)... ... ... came time to blow out his candles on his 14th birthday, Estefano Reano had only ... team at Joe DiMaggio Children’s Hospital surprised his family with a phone call that made ... , “He was playing at home, when we got the phone call telling us there ...
(Date:12/7/2016)... ... ... One of two inventors from Glen Burnie, Md., has a granddaughter who ... is why the co-inventor and I have designed a new and better way to ... of the patent-pending AV-AIR, a device that serves as an alternative to conventional methods ...
(Date:12/7/2016)... ... December 07, 2016 , ... ... that its fully redesigned website, which launched October 17, 2016, features comprehensive information ... design and easy-to-navigate layout. Visitors and patients can discover the latest clinical dermatology ...
(Date:12/7/2016)... City, CA (PRWEB) , ... December 07, 2016 , ... ... during the holidays and winter seasons. One major study analyzing heart attacks among ... compared to August of a given year. We would all agree of course–no time ...
Breaking Medicine News(10 mins):
(Date:12/7/2016)... PARK , Israel , December 7, 2016 ... today the signing of a memorandum of understanding with Korean company ... between the companies will assist in expediting Kadimastem,s entry into international ... innovative treatment for severe diseases in general and ALS and diabetes ... , , ...
(Date:12/7/2016)... , Dec. 7, 2016 Boehringer Ingelheim ... in patients with unresectable malignant pleural mesothelioma (MPM) ... The data, presented at the 17 th ... Vienna , showed nintedanib plus pemetrexed/cisplatin ... plus pemetrexed/cisplatin, with a significantly improved PFS (9.4 ...
(Date:12/7/2016)... , Dec. 7, 2016  Ionis Pharmaceuticals, Inc. (NASDAQ: ... will present a company overview at the BMO Capital Markets Prescriptions ... New York, NY . A live webcast of ... of the Ionis website.  The replay will be available within 48 ... ...
Breaking Medicine Technology: