Pregnant Women Face Big Questions With Cheaper DNA Sequencing
Safer Prenatal Testing
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DNA sequncing has the potential to help more children overcome genetic disease.","credit":null,"description":null,"imgSizes":{"thumbnail":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-400x229.jpg","width":400,"height":229,"mimeType":"image/jpeg"},"guest-author-32":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-32x32.jpg","width":32,"height":32,"mimeType":"image/jpeg"},"guest-author-64":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-64x64.jpg","width":64,"height":64,"mimeType":"image/jpeg"},"guest-author-96":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-96x96.jpg","width":96,"height":96,"mimeType":"image/jpeg"},"guest-author-128":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-128x128.jpg","width":128,"height":128,"mimeType":"image/jpeg"},"detail":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-75x75.jpg","width":75,"height":75,"mimeType":"image/jpeg"},"kqedFullSize":{"file":"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus.jpg","width":640,"height":367}},"fetchFailed":false,"isLoading":false}},"audioPlayerReducer":{"postId":"stream_live"},"authorsReducer":{"dr-barry-starr":{"type":"authors","id":"6177","meta":{"index":"authors_1591205172","id":"6177","found":true},"name":"Dr. Barry Starr","firstName":"Dr. Barry","lastName":"Starr","slug":"dr-barry-starr","email":"bstarr@thetech.org","display_author_email":false,"staff_mastheads":[],"title":null,"bio":"Dr. Barry Starr (\u003ca href=\"https://twitter.com/geneticsboy\">@geneticsboy\u003c/a>) is a Geneticist-in-Residence at The Tech Museum of Innovation in San Jose, CA and runs their Stanford at The Tech program. The program is part of an ongoing collaboration between the \u003ca href=\"http://genetics.stanford.edu/\">Stanford Department of Genetics\u003c/a> and \u003ca href=\"http://www.thetech.org/\">The Tech Museum of Innovation\u003c/a>. Together these two partners created the \u003ca href=\"http://www.thetech.org/exhibits/permanent/index.php?sGalKey=gtwt&galKey=lt\">Genetics: Technology with a Twist\u003c/a> exhibition.\r\n\r\nYou can also see \u003ca href=\"https://ww2.kqed.org/science/author/dr-barry-starr/\">additional posts by Barry at KQED Science\u003c/a>, and read his \u003ca href=\"http://science.kqed.org/quest/author/dr-barry-starr/\">previous contributions\u003c/a> to \u003ca href=\"http://science.kqed.org/quest/\">QUEST\u003c/a>, a project dedicated to exploring the Science of Sustainability.","avatar":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g","twitter":"geneticsboy","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"science","roles":["author"]},{"site":"quest","roles":["subscriber"]}],"headData":{"title":"Dr. Barry Starr | 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FM","link":"/"}},"quest_41121":{"type":"posts","id":"quest_41121","meta":{"index":"posts_1591205157","site":"quest","id":"41121","score":null,"sort":[1343055649000]},"guestAuthors":[],"slug":"pregnant-women-face-big-questions-with-cheaper-dna-sequencing","title":"Pregnant Women Face Big Questions With Cheaper DNA Sequencing","publishDate":1343055649,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cfigure id=\"attachment_41122\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/07/23/pregnant-women-face-big-questions-with-cheaper-dna-sequencing/9wkfetus/\" rel=\"attachment wp-att-41122\">\u003cimg class=\"size-full wp-image-41122\" title=\"9wkFetus\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/07/9wkFetus.jpg\" alt=\"\" width=\"640\" height=\"367\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-400x229.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Cheap DNA sequncing has the potential to help more children overcome genetic disease.\u003c/figcaption>\u003c/figure>\n\u003cp>In the very near future, a pregnant woman will be able to learn a whole lot more than she currently can about the fetus she is carrying. And she can find out in a way that poses no risk to the fetus.\u003c/p>\n\u003cp>This is obviously a good thing for fetuses with previously hidden but treatable genetic diseases and for parents of special needs children so they can prepare themselves. But it will also open wider the Pandora’s Box of ethical dilemmas that prenatal testing already presents us with.\u003c/p>\n\u003cp>The most common ways to do prenatal testing right now -- amniocentesis and chorionic villus sampling (CVS) -- increases a woman's risk for miscarriage. Not a lot, but enough so that the testing shouldn't routinely be done. Basically the only time to do this kind of testing is when the risk for the fetus having a genetic problem is higher than the risk of miscarriage.\u003c/p>\n\u003cp>This is why, for example, only fetuses of older women are routinely tested for Down syndrome. Once a woman turns 35 or so, the risk for having a child with Down syndrome is higher than the risk for miscarriage.\u003c/p>\n\u003cp>New technologies are changing this calculation so that in the near future, prenatal testing may be available for any woman who can afford it. Like I said, this holds great promise for helping parents and their children. But it also raises troubling questions about what parents might do with this information.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The new technique is so much safer because unlike amniocentesis or CVS, it doesn’t mess with the fetus at all. All that is required is a blood draw from the mother. This is because a significant fraction of cell-free DNA in maternal blood comes from the fetus and because of how powerful and how cheap DNA sequencing has become.\u003c/p>\n\u003cp>Back \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/18838674\">in 2008\u003c/a>, DNA sequencing was powerful enough to use this technique to determine whether a fetus had extra or missing chromosomes. In other words, it could be used to figure out whether the fetus had Down syndrome (an extra chromosome 21), Turner syndrome (a single X with no Y), Edwards syndrome (an extra chromosome 18) and so on. These kinds of tests are being refined and will soon be widely available.\u003c/p>\n\u003cp>The test is actually a pretty simple one. Scientists do lots of DNA sequencing so they get a large number of different reads from each chromosome. They then compare the numbers and look for anything out of the ordinary.\u003c/p>\n\u003cp>This is easy to understand if you were just looking at the fetal DNA. In Down syndrome, you have three copies of chromosome 21 instead of the usual two. If you did this kind of sequencing, you’d find 1.5 times the usual amount of chromosome 21 DNA. So if all the other chromosomes gave 100 reads, a fetus with Down syndrome would give 150 for chromosome 21.\u003c/p>\n\u003cp>The cell-free DNA gives similar but much less pronounced results. Let’s say that the fetal DNA makes up about 19% of the total of cell-free DNA (this is a pretty typical number). When scientists compare all of the chromosomes, they will find an increased amount of chromosome 21 DNA but not as much as if they were looking just at fetal DNA. If I am doing my math right, they would get around 110 instead of 100 reads for chromosome 21. With enough DNA sequencing, this is enough to tell that the fetus has an extra chromosome 21.\u003c/p>\n\u003cfigure id=\"attachment_41127\" class=\"wp-caption aligncenter\" style=\"max-width: 400px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/07/23/pregnant-women-face-big-questions-with-cheaper-dna-sequencing/downresults/\" rel=\"attachment wp-att-41127\">\u003cimg class=\"size-full wp-image-41127\" title=\"DownResults\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/07/DownResults.jpg\" alt=\"\" width=\"400\" height=\"126\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">The extra chromosome 21 DNA found in the cell free DNA of the mother\u003c/figcaption>\u003c/figure>\n\u003cp>Now DNA sequencing has become so cheap and powerful that scientists can use the same technique to get much more information about the fetus. Instead of looking at big changes like extra or missing chromosomes, they can actually look for lots and lots of specific DNA differences that can lead to disease. And even more astonishingly, the scientists in \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/22763444\">this report\u003c/a> were able to read all of a fetus’ genes base by base. They can now get a complete genetic readout of the fetus.\u003c/p>\n\u003cp>Reading every letter of every gene won’t be ready for primetime in the near future but being able to look for lots of different genetic markers will. And remember, this is all without any risk to the fetus. At least not from the procedure…\u003c/p>\n\u003cp>This technique will allow doctors to diagnose and treat more genetic diseases earlier than ever before which will be of great benefit for some patients. For example, there are some genetic diseases whose symptoms can be completely headed off if the disease is treated early enough with dietary changes. This test will be able to help some of these people for the first time.\u003c/p>\n\u003cp>But this kind of information is a double-edged sword. I have to wonder how parents-to-be might use it. There are already girl shortages in parts of India and China because of the selective abortion of females. And we know that \u003ca href=\"http://blogs.discovermagazine.com/gnxp/2008/09/down-syndrome-and-abortion-rates/\">90% or so \u003c/a>of confirmed Down syndrome pregnancies end in abortion. This new test will certainly increase the number of Down syndrome abortions because so many more women will be able to find out if their fetus has an extra chromosome 21 or not.\u003c/p>\n\u003cp>It is obviously wrong to terminate a pregnancy because the fetus has two X chromosomes. And many people are troubled by terminating Down syndrome pregnancies as the condition is not fatal and many people with Down syndrome can lead happy and productive lives.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>The question is, when parents-to-be can learn even more about their fetuses, what will be the result? What if the fetus is at increased risk for getting Alzheimer’s late in life? Or having high cholesterol? Or not having blue eyes?\u003c/p>\n\n","blocks":[],"excerpt":"In the very near future, a pregnant woman will be able to learn a whole lot more than she currently can about the fetus she is carrying. And she can find out in a way that poses no risk to the fetus.","status":"publish","parent":0,"modified":1344279299,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":18,"wordCount":989},"headData":{"title":"Pregnant Women Face Big Questions With Cheaper DNA Sequencing | KQED","description":"In the very near future, a pregnant woman will be able to learn a whole lot more than she currently can about the fetus she is carrying. And she can find out in a way that poses no risk to the fetus.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"41121 http://science.kqed.org/quest/?p=41121","disqusUrl":"https://ww2.kqed.org/quest/2012/07/23/pregnant-women-face-big-questions-with-cheaper-dna-sequencing/","disqusTitle":"Pregnant Women Face Big Questions With Cheaper DNA Sequencing","path":"/quest/41121/pregnant-women-face-big-questions-with-cheaper-dna-sequencing","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cfigure id=\"attachment_41122\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/07/23/pregnant-women-face-big-questions-with-cheaper-dna-sequencing/9wkfetus/\" rel=\"attachment wp-att-41122\">\u003cimg class=\"size-full wp-image-41122\" title=\"9wkFetus\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/07/9wkFetus.jpg\" alt=\"\" width=\"640\" height=\"367\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/07/9wkFetus-400x229.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Cheap DNA sequncing has the potential to help more children overcome genetic disease.\u003c/figcaption>\u003c/figure>\n\u003cp>In the very near future, a pregnant woman will be able to learn a whole lot more than she currently can about the fetus she is carrying. And she can find out in a way that poses no risk to the fetus.\u003c/p>\n\u003cp>This is obviously a good thing for fetuses with previously hidden but treatable genetic diseases and for parents of special needs children so they can prepare themselves. But it will also open wider the Pandora’s Box of ethical dilemmas that prenatal testing already presents us with.\u003c/p>\n\u003cp>The most common ways to do prenatal testing right now -- amniocentesis and chorionic villus sampling (CVS) -- increases a woman's risk for miscarriage. Not a lot, but enough so that the testing shouldn't routinely be done. Basically the only time to do this kind of testing is when the risk for the fetus having a genetic problem is higher than the risk of miscarriage.\u003c/p>\n\u003cp>This is why, for example, only fetuses of older women are routinely tested for Down syndrome. Once a woman turns 35 or so, the risk for having a child with Down syndrome is higher than the risk for miscarriage.\u003c/p>\n\u003cp>New technologies are changing this calculation so that in the near future, prenatal testing may be available for any woman who can afford it. Like I said, this holds great promise for helping parents and their children. But it also raises troubling questions about what parents might do with this information.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>The new technique is so much safer because unlike amniocentesis or CVS, it doesn’t mess with the fetus at all. All that is required is a blood draw from the mother. This is because a significant fraction of cell-free DNA in maternal blood comes from the fetus and because of how powerful and how cheap DNA sequencing has become.\u003c/p>\n\u003cp>Back \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/18838674\">in 2008\u003c/a>, DNA sequencing was powerful enough to use this technique to determine whether a fetus had extra or missing chromosomes. In other words, it could be used to figure out whether the fetus had Down syndrome (an extra chromosome 21), Turner syndrome (a single X with no Y), Edwards syndrome (an extra chromosome 18) and so on. These kinds of tests are being refined and will soon be widely available.\u003c/p>\n\u003cp>The test is actually a pretty simple one. Scientists do lots of DNA sequencing so they get a large number of different reads from each chromosome. They then compare the numbers and look for anything out of the ordinary.\u003c/p>\n\u003cp>This is easy to understand if you were just looking at the fetal DNA. In Down syndrome, you have three copies of chromosome 21 instead of the usual two. If you did this kind of sequencing, you’d find 1.5 times the usual amount of chromosome 21 DNA. So if all the other chromosomes gave 100 reads, a fetus with Down syndrome would give 150 for chromosome 21.\u003c/p>\n\u003cp>The cell-free DNA gives similar but much less pronounced results. Let’s say that the fetal DNA makes up about 19% of the total of cell-free DNA (this is a pretty typical number). When scientists compare all of the chromosomes, they will find an increased amount of chromosome 21 DNA but not as much as if they were looking just at fetal DNA. If I am doing my math right, they would get around 110 instead of 100 reads for chromosome 21. With enough DNA sequencing, this is enough to tell that the fetus has an extra chromosome 21.\u003c/p>\n\u003cfigure id=\"attachment_41127\" class=\"wp-caption aligncenter\" style=\"max-width: 400px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/07/23/pregnant-women-face-big-questions-with-cheaper-dna-sequencing/downresults/\" rel=\"attachment wp-att-41127\">\u003cimg class=\"size-full wp-image-41127\" title=\"DownResults\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/07/DownResults.jpg\" alt=\"\" width=\"400\" height=\"126\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">The extra chromosome 21 DNA found in the cell free DNA of the mother\u003c/figcaption>\u003c/figure>\n\u003cp>Now DNA sequencing has become so cheap and powerful that scientists can use the same technique to get much more information about the fetus. Instead of looking at big changes like extra or missing chromosomes, they can actually look for lots and lots of specific DNA differences that can lead to disease. And even more astonishingly, the scientists in \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/22763444\">this report\u003c/a> were able to read all of a fetus’ genes base by base. They can now get a complete genetic readout of the fetus.\u003c/p>\n\u003cp>Reading every letter of every gene won’t be ready for primetime in the near future but being able to look for lots of different genetic markers will. And remember, this is all without any risk to the fetus. At least not from the procedure…\u003c/p>\n\u003cp>This technique will allow doctors to diagnose and treat more genetic diseases earlier than ever before which will be of great benefit for some patients. For example, there are some genetic diseases whose symptoms can be completely headed off if the disease is treated early enough with dietary changes. This test will be able to help some of these people for the first time.\u003c/p>\n\u003cp>But this kind of information is a double-edged sword. I have to wonder how parents-to-be might use it. There are already girl shortages in parts of India and China because of the selective abortion of females. And we know that \u003ca href=\"http://blogs.discovermagazine.com/gnxp/2008/09/down-syndrome-and-abortion-rates/\">90% or so \u003c/a>of confirmed Down syndrome pregnancies end in abortion. This new test will certainly increase the number of Down syndrome abortions because so many more women will be able to find out if their fetus has an extra chromosome 21 or not.\u003c/p>\n\u003cp>It is obviously wrong to terminate a pregnancy because the fetus has two X chromosomes. And many people are troubled by terminating Down syndrome pregnancies as the condition is not fatal and many people with Down syndrome can lead happy and productive lives.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>The question is, when parents-to-be can learn even more about their fetuses, what will be the result? What if the fetus is at increased risk for getting Alzheimer’s late in life? Or having high cholesterol? Or not having blue eyes?\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/41121/pregnant-women-face-big-questions-with-cheaper-dna-sequencing","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_3961","quest_868","quest_1197","quest_11303","quest_13202","quest_3319"],"featImg":"quest_41122","label":"quest"},"quest_879":{"type":"posts","id":"quest_879","meta":{"index":"posts_1591205157","site":"quest","id":"879","score":null,"sort":[1224005144000]},"guestAuthors":[],"slug":"safer-prenatal-testing","title":"Safer Prenatal Testing","publishDate":1224005144,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cp>\u003cspan class=\"left\">\u003cimg src=\"http://www.thetech.org/exhibits/online/ugenetics/images/ask/21.jpg\" width=\"300\" height=\"200\">\u003cem>Testing for Down syndrome may get much safer in the near future\u003c/em>\u003c/span>A \u003ca href=\"http://www.pnas.org/content/early/2008/10/03/0808319105.full.pdf+html\">new study\u003c/a> out from Stanford (yay Stanford!) promises to revolutionize prenatal testing. Instead of looking at a fetus’ cells, the test looks at mom’s blood. More specifically, it looks at the small amounts of fetal DNA found in her blood. \u003c/p>\n\u003cp>This test will get around the small but very real risk of miscarriage that comes with more invasive forms of testing like amniocentesis. Instead of inserting a needle through mom’s belly and into the amniotic sac, a doctor will insert a needle into her arm. This is obviously much safer for the fetus.\u003c/p>\n\u003cp>The test won’t be able to find everything though. It can’t find subtle genetic mutations like those that cause cystic fibrosis or sickle cell anemia.\u003c/p>\n\u003cp>What the test can do is identify fetuses with extra chromosomes. This is one of the main reasons women get prenatal testing--to screen for diseases like Down, Edward's or Patau syndrome. Each one of these is due to an extra chromosome that the test can detect. \u003c/p>\n\u003cp>The test is actually marvelously simple. A sample of blood is taken from mom and the cells are removed. The researchers then take a close look at the DNA that is left behind. Most of this DNA comes from mom but some comes from the fetus too.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The researchers then figure out what millions of bits of the DNA look like. Next they match the bits of DNA to the chromosomes they came from. If more of the DNA bits match a certain chromosome than expected, then there is most likely an extra copy of that particular chromosome. \u003c/p>\n\u003cp>Think about it this way. Imagine a bag full of 23 different colored marbles where each color represents one human chromosome. You pull out marbles millions of times and then tally up the colors you get. (This can either be a ginormous bag or you can put the marbles back in once you pick one.)\u003c/p>\n\u003cp>If you pick more blue marbles, then there were probably more blue ones in the bag to start with. Of course this only works if you pick marbles many, many times. \u003c/p>\n\u003cp>Instead of using marbles, the researchers looked at the millions of bits of DNA they collected. They found that if there was an extra chromosome, then DNA bits from that chromosome were overrepresented. For example, they found that the 9 Down syndrome pregnancies they looked at had anywhere from 4-18% more chromosome 21 DNA than normal pregnancies*. \u003c/p>\n\u003cp>The 4% number was good enough to find pregnancies with extra chromosomes in this small study. They’ll need to repeat it in a larger study to turn this great idea into a diagnostic test for the public.\u003c/p>\n\u003cp>The test costs about 700 dollars to run right now but as sequencing gets cheaper (and it will), that cost should go way down. Also, right now they had to wait for the 14th week (which is a bit earlier than the 15-18 weeks for an amnio). Hopefully they’ll be able to improve the method to get testing done even earlier.\u003c/p>\n\u003cp>*\u003cem>The reason they didn’t get 50% more (as you might expect from having an extra chromosome) is that the fetal DNA made up only a small fraction of the DNA in the sample. In other words, most of the DNA was mom's.\u003c/em>\u003cbr>\n\u003cbr clear=\"all\">\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.332 -121.903\u003c/p>\n\n","blocks":[],"excerpt":"A new study out from Stanford (yay Stanford!) promises to revolutionize prenatal testing. Instead of looking at a fetus’ cells, the test looks at mom’s blood. More specifically, it looks at the small amounts of fetal DNA found in her blood.","status":"publish","parent":0,"modified":1309998669,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":15,"wordCount":583},"headData":{"title":"Safer Prenatal Testing | KQED","description":"A new study out from Stanford (yay Stanford!) promises to revolutionize prenatal testing. Instead of looking at a fetus’ cells, the test looks at mom’s blood. More specifically, it looks at the small amounts of fetal DNA found in her blood.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"879 http://www.kqed.org/quest/blog/?p=879","disqusUrl":"https://ww2.kqed.org/quest/2008/10/14/safer-prenatal-testing/","disqusTitle":"Safer Prenatal Testing","path":"/quest/879/safer-prenatal-testing","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cspan class=\"left\">\u003cimg src=\"http://www.thetech.org/exhibits/online/ugenetics/images/ask/21.jpg\" width=\"300\" height=\"200\">\u003cem>Testing for Down syndrome may get much safer in the near future\u003c/em>\u003c/span>A \u003ca href=\"http://www.pnas.org/content/early/2008/10/03/0808319105.full.pdf+html\">new study\u003c/a> out from Stanford (yay Stanford!) promises to revolutionize prenatal testing. Instead of looking at a fetus’ cells, the test looks at mom’s blood. More specifically, it looks at the small amounts of fetal DNA found in her blood. \u003c/p>\n\u003cp>This test will get around the small but very real risk of miscarriage that comes with more invasive forms of testing like amniocentesis. Instead of inserting a needle through mom’s belly and into the amniotic sac, a doctor will insert a needle into her arm. This is obviously much safer for the fetus.\u003c/p>\n\u003cp>The test won’t be able to find everything though. It can’t find subtle genetic mutations like those that cause cystic fibrosis or sickle cell anemia.\u003c/p>\n\u003cp>What the test can do is identify fetuses with extra chromosomes. This is one of the main reasons women get prenatal testing--to screen for diseases like Down, Edward's or Patau syndrome. Each one of these is due to an extra chromosome that the test can detect. \u003c/p>\n\u003cp>The test is actually marvelously simple. A sample of blood is taken from mom and the cells are removed. The researchers then take a close look at the DNA that is left behind. Most of this DNA comes from mom but some comes from the fetus too.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>The researchers then figure out what millions of bits of the DNA look like. Next they match the bits of DNA to the chromosomes they came from. If more of the DNA bits match a certain chromosome than expected, then there is most likely an extra copy of that particular chromosome. \u003c/p>\n\u003cp>Think about it this way. Imagine a bag full of 23 different colored marbles where each color represents one human chromosome. You pull out marbles millions of times and then tally up the colors you get. (This can either be a ginormous bag or you can put the marbles back in once you pick one.)\u003c/p>\n\u003cp>If you pick more blue marbles, then there were probably more blue ones in the bag to start with. Of course this only works if you pick marbles many, many times. \u003c/p>\n\u003cp>Instead of using marbles, the researchers looked at the millions of bits of DNA they collected. They found that if there was an extra chromosome, then DNA bits from that chromosome were overrepresented. For example, they found that the 9 Down syndrome pregnancies they looked at had anywhere from 4-18% more chromosome 21 DNA than normal pregnancies*. \u003c/p>\n\u003cp>The 4% number was good enough to find pregnancies with extra chromosomes in this small study. They’ll need to repeat it in a larger study to turn this great idea into a diagnostic test for the public.\u003c/p>\n\u003cp>The test costs about 700 dollars to run right now but as sequencing gets cheaper (and it will), that cost should go way down. Also, right now they had to wait for the 14th week (which is a bit earlier than the 15-18 weeks for an amnio). Hopefully they’ll be able to improve the method to get testing done even earlier.\u003c/p>\n\u003cp>*\u003cem>The reason they didn’t get 50% more (as you might expect from having an extra chromosome) is that the fetal DNA made up only a small fraction of the DNA in the sample. In other words, most of the DNA was mom's.\u003c/em>\u003cbr>\n\u003cbr clear=\"all\">\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.332 -121.903\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/879/safer-prenatal-testing","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_145","quest_146","quest_848","quest_868","quest_1192","quest_1197","quest_3351","quest_2141","quest_2282","quest_2907"],"label":"quest"}},"programsReducer":{"possible":{"id":"possible","title":"Possible","info":"Possible is hosted by entrepreneur Reid Hoffman and writer Aria Finger. Together in Possible, Hoffman and Finger lead enlightening discussions about building a brighter collective future. The show features interviews with visionary guests like Trevor Noah, Sam Altman and Janette Sadik-Khan. Possible paints an optimistic portrait of the world we can create through science, policy, business, art and our shared humanity. 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