Children's Hospital BostonWith technology advancing every day, many new prenatal tests for Down syndrome apparently guarantee to be safer, more precise, and available to women earlier in pregnancy. The medical community should discuss about the supposed impact of existing and expected tests. A study was conducted by Brian Skotko, MD, MPP, and clinical genetics fellow at Children’s Hospital Boston. He claims that a steady decline in the amount of babies being born with Down syndrome is apparently seen, since the introduction of prenatal testing.

It was found out that there was supposedly around 15 percent reduction in the birth of babies with Down syndrome in United States between 1989 and 2005. Experts may have estimated an approx 34 percent increase in Down syndrome babies if prenatal testing was not available. This may happen because women, now-a-days, tend to wait longer to have children and this could increase the odds of having a Down syndrome baby.

Two options may be seen for women presently if they would want to receive a definitive diagnosis of Down syndrome. One is chorionic villus sampling (CVS) and the other is amniocentesis. Both the options are persistent and may carry a danger of causing an impulsive miscarriage. Next year, some more new tests may be introduced. These tests may provide a simple blood test that could supposedly pose no danger to the fetus and may deliver a diagnosis of one or more of the genetic variants of Down syndrome i.e. trisomy 21, translocation, or mosaicism.

Preceding study conducted by Skotko discovered that pregnant mothers who received a prenatal diagnosis felt that their doctors apparently supplied them with unfinished, mistaken, and sometimes unpleasant information about the condition. Other studies have illustrated that physicians may themselves be feeling ill-equipped and ignorant to deliver a diagnosis.

Skotko commented, “Unless improvements are made prior to the arrival of new prenatal tests, a true collision is on its way. More women will be going through the testing process, which could lead to a lot of difficult, uncomfortable conversations between physicians and expectant parents.”

Due to these tests, it may create Down syndrome as the first genetic condition to be definitively diagnosed in the first trimester on a population basis.

Skotko calls on the medical field to develop guidelines around how health professionals may convey a diagnosis of Down syndrome. The information packets may need to be assembled properly and it must contain correct information on Down syndrome. It should apparently be given to all expectant parents who have supposedly received a definitive diagnosis. A standardized training program could be created for all healthcare professionals who are occupied in prenatal care and for volunteer parents to complete. Not only doctors of today, but doctors of tomorrow also need to be trained. Medical students, nurses and genetic counselors ought to be informed beyond the textbook and should have communication with people who have Down syndrome so that they may understand the realities of living with the disorder in a better way.

Skotko is of the opinion that 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.

This study was published in Online First by Archives of Disease in Childhood.