Saturday, October 12, 2013

Prenatal tests for Down Syndrome


     Breakthroughs in new tests for prenatal screening allow for women to have more options.   New screenings are more accurate and less invasive.  They allow for screenings of any chromosomal abnormalities while avoiding the risks that amniocentesis imposes.  In the past, the decision to undergo an amniocentesis was based on risk due to the woman’s age and genetic history.  Many amnios were performed but not medically necessary, due to the lack of accurate information provided. The new advancements in screenings that are noninvasive and more accurate allow for women to make well-informed treatment decisions.



     
     The new screenings test the fetal DNA that is found in the mother’s blood.  These tests provide results that detect almost all cases of Down syndrome and result in a false positive result of less than 1% of all cases.  Which is significantly less than older tests.  Noninvasive test results that are positive require an amniocentesis to confirm the existence of Down syndrome.  




     This new noninvasive screening test leads to the possibility of treating a fetus with chromosomal abnormalities prior to birth.  Prenatal treatment such as this, would hopefully allow for the minimization of neurological effects caused by the detected disease.  The developments in prenatal testing and treatment are relatively new and still being tested.  Hopefully within the near future, availability for screening such as this will become more affordable.  It is exciting that such a breakthrough could allow for the discovery of treatments for genetic diseases prior to birth.

http://well.blogs.nytimes.com/2013/10/07/breakthroughs-in-prenatal-screening/?_r=0
http://health.nytimes.com/health/guides/test/amniocentesis/overview.html?inline=nyt-classifier

2 comments:

  1. I'm glad to read that scientist and doctors are coming up with new and less invasive ways to test fetuses for life changing diseases prior to their births. As shown in the picture above amniocentesis looks like a very scary and possibly harmful procedure, so if women can choose a less scary and harmful way to get their unborn child tested for genetic disease I think its great and is moving in the right direction for less invasive treatments and procedures.

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  2. I had the option to choose amniocentesis with my first pregnancy and yes it is very invasive! When the doctor described the process, I immediately said no because one the process is uncomfortable along with some risk factors and two this test isn't necessary. If there are other options out there besides this, then I would choose those first. This should be the last option for any pregnant women, but overall it is their choice. Now that I am on to my second pregnancy, the first recommended test for Down Syndrome was through blood work. It was quick and easy and helps point you in the right direction for your future and the babies. You had mentioned that: "This new noninvasive screening test leads to the possibility of treating a fetus with chromosomal abnormalities prior to birth." ...what exactly does that mean? What precautions are they taking?

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