Understanding the implications of prenatal testing for Down syndrome

Sep 14, 2009

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 that poses no risk to the 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 , 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.

Source: Children's Hospital Boston (news : web)

Explore further: Ebola reveals shortcomings of African solidarity

add to favorites email to friend print save as pdf

Related Stories

Toward a faster prenatal test for Down syndrome

Sep 18, 2007

Scientists in California are reporting an advance toward rapid testing for pre-natal detection of Down syndrome and other birth defects that involve an abnormal number of chromosomes.

Microarray analysis improves prenatal diagnosis

Nov 17, 2008

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 ...

Genetic analysis reveals range of Rett syndrome

Mar 11, 2008

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome will enable affected families to receive a more accurate indication of their child’s prognosis.

Recommended for you

Ebola reveals shortcomings of African solidarity

11 hours ago

As Africa's leaders meet in Ethiopia to discuss the Ebola crisis, expectations of firm action will be tempered by criticism over the continent's poor record in the early stages of the epidemic.

Second bird flu case confirmed in Canada

Jan 30, 2015

The husband of a Canadian who was diagnosed earlier this week with bird flu after returning from a trip to China has also tested positive for the virus, health officials said Friday.

What exactly is coronavirus?

Jan 30, 2015

The conflicts in Syria and Iraq are straining public health systems and public health efforts meant to prevent and detect the spread of infectious diseases. This is generating a "perfect storm" of conditions for outbreaks. Among the infections raising concern is Middle East Respiratory Syndrome, caused by a type of coronavirus, which emerged in 2012. ...

Scientists find Ebola virus is mutating

Jan 30, 2015

(Medical Xpress)—Researchers working at Institut Pasteur in France have found that the Ebola virus is mutating "a lot" causing concern in the African countries where the virus has killed over eight thous ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.