Showing posts with label prenatal screening. Show all posts
Showing posts with label prenatal screening. Show all posts

Wednesday, February 4, 2015

Non-Invasive Prenatal Testing (NIPT) Market expected to reach $1.97 billion by 2020

Transparency Market Research has published a new report titled "Non-Invasive Prenatal Testing (NIPT) Market (BambniTest, Harmony, informaSeq, MaterniT21 PLUS, NIFTY, Panorama, PrenaTest, verifi and VisibiliT) - Global Industry Analysis, Size, Volume, Share, Growth, Trends and Forecast, 2014 - 2020" to its report store.

Albany , NY (PRWEB) February 04, 2015
According to a new market report published by Transparency Market Research “Non-Invasive Prenatal Testing (NIPT) Market - Global Industry Analysis, Size, Volume, Share, Growth, Trends and Forecast, 2014 - 2020,” the global NIPT market was valued at USD 0.53 billion in 2013 and is expected to grow at a CAGR of 19.8% from 2014 to 2020, to reach an estimated value of USD 1.97 billion in 2020.
Over the past two years, the global prenatal testing market is witnessing a paradigm shift towards the growing demand for non-invasive prenatal testing over the conventional prenatal screening and diagnostic methods such as maternal serum screening, nuchal translucency (NT) scan, amniocentesis and chorionic villus sampling (CVS). It is mainly because of advantages associated with NIPTs such as safety, accuracy, and no risk of miscarriage during the genetic screening test for the common chromosomal abnormalities (trisomy 21, trisomy 18, trisomy 13, monosomy X, etc.).
Browse the full Non-Invasive Prenatal Testing (NIPT) Market Report : http://www.transparencymarketresearch.com/noninvasive-prenatal-diagnostics-market.html

Sunday, March 10, 2013

New prenatal screening test for Down syndrome raises questions


by Leisa Scott from The Courier Mail:
IT RAINED the day they got the news. Big, pelting drops, as if some screenwriter well-versed 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 4, and Charlie, then 2. Now the picture 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.
So they prepared. Months of 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. Released in 2008 and based on figures from 1986 to 2004, the study was co-authored by associate professor Jane Halliday, a public health genetics expert with Melbourne-based Murdoch Childrens Research Institute. "The vast majority, 95 per cent, were terminated," she says.
It's similar across the Western world. About 90 per cent of foetuses with a diagnosis of Down syndrome are terminated in New Zealand, about 92 per cent in the US, about 93 per cent in the UK.
Now, a new element in the vexed issue of Down syndrome and reproductive choice is entering the fray. From this year, non-invasive prenatal testing is available in Australia. The existing invasive methods of diagnosis amniocentesis and chorionic villus sampling (CVS) are taken up by about 6 per cent of pregnant women, generally after an abnormal scan. They carry the risk of miscarriage the main reason women do not seek the test. But the new tests, although expensive and, for now, limited to the wealthy at a cost of up to $2000, do not pose such risks.
Which raises the very real question: Is this the beginning of the end for Down syndrome?

THE refrains of "I'm A Little Teapot" Coming from Brodie Logan's iPad are starting to get a bit too loud.
Mum Angela suggests the five-year-old turn it down. Brodie shoots her a look as if to say 'Party pooper!' and keeps the volume where it is. On the second request, Brodie considers her options and turns it down. Yep, just like most five-year-olds.
Angela smiles at her daughter's chutzpah and continues reeling off Brodie's achievements. "She's writing her own name. She can count well into her teens. She loves to learn, she loves to be with other kids and be involved and play. She packs her lunch (for a mainstream school), wants to help cook dinner. She's independent, fiercely so."
That's not the picture that was painted for Angela and husband Ben, of Ipswich, when Brodie - their first, followed by Harvey, 3, and Sammie, 18 months - was born with Down syndrome. Angela says while the medical care at a major Brisbane hospital was top-class (Brodie needed a heart operation at 11 weeks), she was shocked by the "overwhelmingly negative" advice from medical staff and social workers about life with Down syndrome.

Thursday, July 5, 2012

Group Challenges Down Syndrome Testing


The International Criminal Court is set to launch a formal preliminary examination into the New Zealand Government's antenatal Down syndrome screening programme.
Saving Down’s, the group who filed the complaint, says the Government programme devalues the lives of their children and that's a form of persecution.
Taya, Dylan and Molly are friends, all with Down syndrome, born with an extra 21st chromosome.
Dylan’s mother, Janine Bezencon, says bringing up a child with Down syndrome is “an absolute joy”.
“I really mean that with all my heart.”
A group of other parents, known as Saving Down's, agree and have taken the Government to the International Criminal Court for its antenatal Down syndrome screening programme.
“We have got pregnant women going to their midwives,” says Mike Sullivan, father of three-year-old Down-affected Rebecca. “They've got a wanted pregnancy. They're being given the opportunity to engage in a testing programme that selects that child on the basis of its genetic difference and that's a practice of eugenics and that's prohibited under international law.”
Last year they filed a complaint with the ICC at The Hague, which usually deals with war crimes. They've now learnt the court has decided to go ahead with a formal preliminary examination, making it one of only eight cases worldwide.
“This is unprecedented,” says Mr Sullivan. “They've got a result after a thorough legal analysis of the situation. It means the prosecutors accept that there are merits and concerns with the information raised by the court.”
More information will now be tabled and further discussions held between the prosecutor’s office and the New Zealand Government. 
Saving Down’s hopes this will eventually lead to the end of the programme, but what if it doesn't?
“They'll be a dying breed pretty much,” says Ms Bezencon. “That will be a real shame.”
The Ministry of Health says New Zealand’s antenatal screening programme is in line with others overseas. 
But Saving Down’s says that if they can stop the programme here they can use it as a precedent to stop programmes in other countries.

Read more: http://www.3news.co.nz/Group-challenges-Down-testing/tabid/1607/articleID/259658/Default.aspx#ixzz1zUPFQSP1

Monday, June 11, 2012

Prenatal screening for Down syndrome is still in need of improvement

from eurekalert.org , contact: Shi-he Shao, Society for Experimental Biology and Medicine : 
Prenatal screening for Down syndrome (DS) is still in need of improvement. Perinatal medicine experts have worked hard to find new biomarkers for screening of DS. Dr. Shi he Shao and his co-investigators, from Jiangsu University and Changzhou Woman and Children Health Hospital, report in the May 2012 issue of Experimental Biology and Medicine that they have successfully identified twenty-nine differentially expressed proteins in maternal serum from pregnancies carrying DS fetuses with proteomic approaches. These differential proteins offer the possibility of improving the performance of DS screening in the future. The functional roles of these proteins also possibly have a relationship with the development of DS.
Dr. Shao said "To date, a very limited number of studies have been carried out to analyze maternal blood in search for biomarkers of DS." "We have successfully identified the greatest number of potential DS biomarker proteins in maternal serum."
Dr. Yu said "We used the proteomic approaches of two dimensional gel electrophoresis (2-DE) and MALDI mass spectrometry and they proved to be of benefit in identifying potential serum biomarkers to detect DS."
Dr. Qiu wei Wang said "Among 29 proteins, two proteins ceruloplasmin and complement factor B (CP and CFB) were the most notable. Both were significantly increased in DS maternal serum and their functional roles suggest a relationship with the development of DS."
These differential proteins offers the possibility of further improving the performance of DS screening but Dr. Shao concludes that "it still needs clinical verification as a prenatal screen and we will conduct corollary studies to understand how these candidate proteins are related to the etiology and function of DS."
Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology and Medicine said "Prenatal screening for Down Syndrome has a rate of detection which is at best 75 to 85% with a 5% false positive rate and a lower rate of detection found in developing countries. The proteomic approach of Shao and colleagues offers new biomarkers which could lead to higher rates of detection and lower false positive rates. Further clinical testing of this approach is warranted based on this study."

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