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Non-Invasive Prenatal Testing

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  • 1. NON-INVASIVE PRENATAL TESTING (NIPT) By: Sarah Lodewyks
  • 2. What is it? •“Non-invasive Prenatal Testing (NIPT) is a single blood test that uses cuttingedge technology to screen pregnant women for chromosome problems, as early as 10-weeks in pregnancy.” (Medcan, 2013)
  • 3. Why? • Women get NIPT to diagnose their babies with genetic mutations (disabilities), even before they are born. • By getting this test the woman will know the gender, blood-type and if there are any chromosomal mutations that could cause disabilities such as Downs Syndrome.
  • 4. What do they do with the information? • Some women choose to abort their babies after they receive the test results. • Some women use the information to better prepare themselves for life with the child. • Some women will choose to put their child up for adoption based on the results.
  • 5. Pros • You can better prepare yourself as a mother if your child will be born with a disability • You can find out the gender in the early stages of the pregnancy • If there is a history of a chronic illness, such as cancer, in your family, the baby can be tested for it and treatment to prevent it can start immediately
  • 6. Cons • The pregnancy can be terminated if the mother does not like the results of the testing • The value of a child with a disability is being degraded • The woman may look at her child with a disability and think that it is not perfect
  • 7. Structural Functionalism • “Structural functionalism, or simply functionalism, is a framework for building theory that sees society as a complex system whose parts work together to promote solidarity and stability” (http://en.wikipedia.org/wiki/Structural-functionalism) • NIPT is related to Structural Functionalism because it is taking away on of the ‘parts’ of society. NIPT is a great exploration and technology that can be misused and lead to the termination of a pregnancy or a loss in one of the ‘parts’ of society.
  • 8. Youtube Video • http://www.youtube.com/watch?v=o79xxEcLwvY
  • 9. The Loves Story IT rained the day they got the news. Big, pelting drops, as if some screenwriter wellversed in melodrama was dictating the scene. Annie Love couldn't take the call. She'd been going "slowly nuts" waiting for diagnosis day to arrive and was only just holding herself together. Her husband, Ben, answered the phone. He nodded. Then he mouthed the words. "It's positive. Baby has Downs." They cried. Huge, heaving sobs to rival the rain. In the days and weeks that followed, they'd pull themselves together, then lose it all over again. And they grieved. This was not the picture they had of their family. This baby was meant to be "normal" just like Sam, then 3, and Charlie, then 2. Now the view had changed, fuelled by stereotypes: an overweight kid with a bad haircut being teased, a life on the fringes. But they'd already decided – after many heart-wrenching talks in the preceding four weeks between suspicious scan and confirming amniocentesis – that they would have the baby. If he had Down syndrome, they'd paint a new picture.
  • 10. Continued So they prepared. Grief gave way to a readiness and a joy. Everyone close to them knew their baby would be born with Down syndrome. Now it was time to get on with it. They wrote a birth plan. No-one in that delivery room was to be negative. This was their baby and they were happy. He arrived at 2.55am on March 20, 2012. Nicholas Fenton Angus Love, 3.8kg, 52cm long. And here he sits on the floor right now, goo-gah-gurgling as he plays with his toy with gusto. Plump, healthy, with a knockout grin. And "chromosomally enhanced", as his mother likes to say. As she looks at Nicholas playing at their home in Gordon Park, on Brisbane's northside, it's hard for Annie, a Catholic, to admit she considered abortion. So did Ben. "From a relationship perspective it was probably one of the hardest things we've ever had to go through," says Annie. That the Loves decided to have Nicholas after the amniocentesis confirmed Down syndrome makes them a rarity. Most don't. Only 5.3 per cent of pregnancies where there is a prenatal diagnosis of Down syndrome are continued. This figure comes from a respected Victorian study, the only (now-defunct) research in Australia that followed the link from prenatal diagnosis to live births of babies with Down syndrome.
  • 11. Statistics • genetic testing is said to increase from 100,000/year to 3 million/year • 5.3 per cent of pregnancies with Downs are continued • about %90 of fetuses with a diagnosis of Down syndrome are terminated in New Zealand, about %92 in the US, about %93 in the UK.
  • 12. Reasons
  • 13. • “Checking for hundreds or thousands of traits with one blood test, early in pregnancy, could move prenatal genetic testing from uncommon to routine. That possibility challenges all societies to decide for which ends and by what means they want such tests to be used, raising hard questions about, among other things, abortion, disability rights, eugenics and informed consent” – Henry T. Greenly
  • 14. References • Greely, H. T. (2011). Get ready for the flood of fetal gene screening. Nature, 469(7330), 289-291. doi:10.1038/469289a • King, J. S. (2012). Genetic tests: Politics and fetal diagnostics collide. Nature, 491(7422), 33-34. doi:10.1038/491033a • http://www.news.com.au/lifestyle/parenting/the-chosen-ones-australiasshrinking-number-of-down-syndrome-kids/story-fnet08ui-1226598360762 • http://www.medcan.com/services/genetics/non-invasive_prenatal_testing/ • http://www.huffingtonpost.com/alexandra-minna-stern/noninvasive-prenataltest_b_2280696.html

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