Early Down's test

Early Down's test 'more sensitive'

By Caroline Parkinson Health editor, BBC News website

The test analyses foetal DNA in a mother's blood

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A more accurate test for Down's syndrome which can also be given earlier in pregnancy than current checks has been developed, say experts.

A study of 1,000 pregnancies found the test of foetal DNA in maternal blood can show a baby is "almost certainly" affected or unaffected by Down's.

The King's College London team behind it said it could help women decide if they needed further, invasive tests.

The Down's Syndrome Association said the new test was not "imminent".

Around 750 babies are born with Down's syndrome each year in the UK.

The condition is caused by the presence of an extra copy of chromosome 21, which occurs by chance.

'Nearly diagnostic'

Women are currently tested between weeks 11 and 13 of pregnancy. They have an ultrasound, during which a pocket of fluid at the back of a baby's neck - the nuchal translucency - is measured. Babies with Down's syndrome tend to have more fluid than normal.

Testing for Down's syndrome

• All pregnant women are offered screening for Down's syndrome
• This combines an ultrasound scan of the baby and a blood test for the mother
• Experts then estimate a woman's chance of having a baby with Down's
• Those at higher risk can then opt to go for an invasive diagnostic test that will tell them if their baby has Down's
• This could be an amniocentesis or chorionic villus sampling
• Both carry a one in 100 risk of miscarriage
• The new blood test could reduce the number of high risk women needing an invasive test by adding an extra level of screening

Women also have a blood test to check for abnormal levels of certain proteins and hormones.

They are then given an estimation of the chances of their child having Down's - which also takes their age into account - such as one in 150 or one in 700.

Each of the three elements is only an indication.

But based on the result, those with a higher estimated risk can have one of two invasive and potentially risky tests.

Chorionic villus sampling (CVS) involves testing a small sample of the placenta, while an amniocentesis tests the amniotic fluid around the baby.

Both tests carry a one in 100 risk of miscarriage.

Prof Kypros Nicolaides, who is leading the research and also developed the nuchal fold test, says the foetal DNA (cfDNA) test is much more definitive.

The test shows there is either more than a 99% chance, or less than one in 10,000 that their baby has Down's syndrome.

The research showing it is more sensitive, and less likely to offer a false-positive result, is published in Ultrasound in Obstetrics and Gynaecology.

Prof Nicolaides said: "This test is nearly diagnostic. It tells you almost certainly your baby has Down's or almost certainly it does not.

"From a woman's perspective, that is a much more clear message about what to do next."

Between 3% and 5% of pregnant women currently undergo invasive testing.

The foetal DNA test has seen a rate of less than 0.5%.

'Lip-service'

Next month, the professor and his team are to begin a two-year prospective study of 20,000 women in NHS hospitals to further assess the test.

However it currently costs around £400, so Prof Nicolaides says - if the cost does not fall - it may be that the NHS could use the conventional test (which costs £180) for all pregnant women, then the foetal DNA test for those at a higher risk - perhaps 10-15% of all pregnancies.

"The Down's Syndrome Association considers it far more important at this point to focus on providing relevant, accurate and up-to-date information about Down's syndrome,"

He said his aim was to offer women clearer information to allow them to make choices about how they should proceed.

"It has been trendy to say we must involve patients in the decision-making process, but it has often been something we only pay lip-service to.

"If the risk is say one in 250, how do they decide? When they have much more clarity, a clearer result, it is made easier."

Carol Boys, chief executive of the Down's Syndrome Association (DSA) said: "The latest results from Prof Nicolaides and his team at King's College show that the use of an early non-invasive blood test that could be used throughout the national screening programme is still a fair way off.

"The DSA considers it far more important at this point to focus on providing relevant, accurate and up-to-date information about Down's syndrome, delivered by midwives and associated health professionals, who have received our targeted training prior to any screening test.

"We are currently seeking full funding to ensure that our Tell it Right, Start it Right training can be rolled out nationally in readiness for the time when the non-invasive diagnostic test in early pregnancy is a reality in the UK.

"We do not believe that this is imminent."

 

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Building Your Own Web Site - FREE

 
TOOL KIT
Building Your Own Web Site, Free
By AZADEH ENSHA
Published: June 5, 2013
Personal Web sites have been around a long time. Just ask anyone with an old Angelfire or GeoCities page. But now, Internet users have a dizzying array of free, feature-rich services to choose from — no coding skills required.

Weebly offers many free services to those who want to create Web sites, including domain name transfers.
 
"These days, personal site builders have a lot more functions, and they're a lot better because of it," said Brian Blau, a research director at Gartner, the technology research firm. Still, Mr. Blau noted, the free model has drawbacks. "It has little to do with helping people. It has to do with making money. The free is always the hook. What they'll sell later is shopping carts and all these other add-on services, because once you're hooked in, you're not as motivated to change."

The market is teeming with businesses based on the free model, which helps companies increase their users and in turn helps them secure financing and advertisers.

Still, for Web users seeking to promote their work or business on a small budget, these ready-made sites are useful. Below is a roundup featuring some free platforms, broken down by category.

QUESTIONS WORTH ASKINGHaving a wealth of services to choose from is both good and bad. Simply because a company offers 300 fonts doesn't mean you need anywhere near that. So before you get started, ask yourself three questions: What am I looking to get out of the site? What features must I have? And which ones can I live without? Figuring out these answers before settling on a service can help you avoid potential pitfalls down the line, like dealing with outdated plug-ins and overly sophisticated tools.

GENERAL-PURPOSE WEB SITESWhen it comes to creating personal sites, the former AOL-owned About.me is a great first option. Like most others, About.me offers social media buttons, a mobile application and a simple sign-up. The free version of the site is also ad-free, with the exception of a company promotion positioned on your home page.

But if one of your must-haves is themes, look elsewhere. About.me doesn't have them, relying instead on existing About sites (showcased under directories) to help inspire other users. "A lot of parallel products were focused on themes and rigid formats, and we're more focused on user control," said Ryan Freitas, the site's co-founder. "Users don't need as much hand-holding when they're given examples."

Weebly is a better alternative if you want themes. The company offers over 100 of them, from corporate to entertainment. More important, Weebly continuously adds themes and removes old and outdated ones. With Weebly, too, a large majority of its services, including domain name transfers, are free.

"All of our growth has been through word of mouth," David Rusenko, Weebly's co-founder, said, noting that the site had an 80 percent Net Promoter Score, which measures how willing users are to recommend the service to others. "We spend an inordinate amount of time on the product, and, at the end of the day, this metric shows how users feel about it."

If your top priority is social networking, consider Flavors.me. The site aggregates and posts photographs, blog posts, status and other updates from more than 30 services, including SoundCloud, Instagram and Tumblr. Like Flavors, DooID is big on social network integration. The site places your profiles on a single landing page, along with a vCard button on the Web version, so others can download and import your contact data.

If customer service support is high on your list, Wix is a great option. The company's contact form offers support in nine languages. Additionally, Wix has a call center in San Francisco with over 70 agents to field questions from 9 a.m. to 8 p.m. Eastern time. On the user end, Wix has an HTML 5 drag-and-drop editing tool, integration with the image editor Aviary and hundreds of fully malleable templates. "We give you templates, but they're a jumping-off point. You place what you want, where you want," said Eric Mason, the spokesman for Wix. On the downside, such malleability often comes with more upkeep.

Breezi is less laid back than Wix, which means that you can't, say, drop an image anywhere you like. But this more restrictive model also makes it less likely that you'll run into broken links and screen resolution issues. Most impressive is the company's relatively new design engine, which generates designs on the fly.

"The real problem is that a lot of these sites can't help a user design. That's why you have the designer act as the middleman, because the real issue is the know-how," said Navid Safabakhsh, a founder of Breezi. "You can waste a lot of time using the wrong tools."

Breezi lets you select your category from among hotel/spa, pet services, consulting and other options. Then you can choose and lock in colors, fonts and other features until you're happy with what you see.

SHOPPING AND SMALL BUSINESSFor business or brand promotion, Facebook Pages is a popular option, mainly because of the social network's built-in billion-plus users that page owners can turn into "likes" and dollars. Users can also create promotional discounts for their customers.

If you're in the market for a fleshed-out online store to sell big-ticket items, but don't want to pay for an e-commerce solution like Shopify, try Etsy. The site lets users create a store to sell handmade goods and vintage items, like furniture and greeting cards. Store owners pay 20 cents per listing, and Etsy takes a 3.5 percent cut of the item's selling price. For smaller shops, Big Cartel also provides a similar service, with a clean, customizable interface, a one-time monthly fee instead of individual transaction charges and the ability to sell a wider range of goods. But its free version lets you post only five products, and you won't get the built-in traffic base that comes with a community marketplace like Etsy.

If you want to create a site for a single item,there's Gumroad. The site is especially good for independent artists seeking to sell their documentary films, songs and books. Like Etsy, Gumroad takes a cut of your proceeds, though it also accommodates deposits in over 190 countries and has a simple checkout process that makes buying easy.

To advertise a bake sale or create a lost dog flier,try Smore. The service is an easy way to create and publish posters online, with the ability to embed videos and Twitter posts.

PORTFOLIO SITES For professional or résumé sites, look into Zerply. Like LinkedIn, your Zerply page can highlight your education, experience and biography, and users can endorse others. For professional writers, two good sites are Muck Rack and Contently. Both sites allow journalists to showcase their work, including published articles. User profiles also display how many times a highlighted article has been shared on social sites like Twitter.

For graphic design and art portfolios,Carbonmade is a good way to show off your illustration skills, though its free version allows a maximum of only five projects and 35 images.

And that's a small reminder that, ultimately, there's no such thing as a full free lunch.

A version of this article appeared in print on June 6, 2013, on page B9 of the New York edition with the headline: Building Your Own Web Site, Free.
 
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