{"id":1176,"date":"2021-10-06T14:12:42","date_gmt":"2021-10-06T14:12:42","guid":{"rendered":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/?p=1176"},"modified":"2021-10-25T14:20:27","modified_gmt":"2021-10-25T14:20:27","slug":"what-is-cell-free-dna-testing-and-why-its-done","status":"publish","type":"post","link":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/what-is-cell-free-dna-testing-and-why-its-done\/","title":{"rendered":"What is Cell Free DNA Testing and Why It&#8217;s Done"},"content":{"rendered":"<h2><b>What is Cell Free DNA?<\/b><\/h2>\n<p><span style=\"font-weight: 400\">You may be wondering, \u201cWhat is cell free DNA?\u201d In medical terms, <\/span><a href=\"\/trogolo-obstetrics-and-gynecology\/obstetrician-jacksonville-florida\/\" target=\"_blank\" rel=\"noopener\"><span style=\"font-weight: 400\">cell free DNA <\/span><\/a><span style=\"font-weight: 400\">(or cfdna) refers to all non-encapsulated DNA in the bloodstream. Cell free fetal DNA is small pieces of DNA from cells in the placenta, shed into the mother\u2019s bloodstream when they rupture. Though cell free DNA can sometimes be detected as early as six weeks into a pregnancy, medical professionals recommend waiting until the tenth week of pregnancy before undergoing a cell free DNA test to ensure that levels are sufficient to show up on the test.<\/span><\/p>\n<h2><b>Cell Free DNA Test<\/b><\/h2>\n<p><span style=\"font-weight: 400\">Prenatal screening has significantly improved and changed in the past decade thanks to a new test in the medical field called the cell free DNA test, which is truly a breakthrough in prenatal screening! The cfdna tests are non-invasive tests that analyze fetal DNA from a mother\u2019s blood sample. What does cell free DNA test for, you might ask? By testing cfdna, doctors can more easily and efficiently screen for particular chromosomal abnormalities in a fetus.\u00a0<\/span><\/p>\n<h2><b>What Does Cell Free DNA Test For?<\/b><\/h2>\n<p><img decoding=\"async\" class=\"aligncenter wp-image-1178 size-full\" src=\"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For.jpg\" alt=\"Pregnant Young Woman Visiting Doctor\" width=\"1000\" height=\"667\" srcset=\"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-200x133.jpg 200w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-300x200.jpg 300w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-400x267.jpg 400w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-600x400.jpg 600w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-768x512.jpg 768w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For-800x534.jpg 800w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/What-Does-Cell-Free-DNA-Test-For.jpg 1000w\" sizes=\"(max-width: 1000px) 100vw, 1000px\" \/><\/p>\n<p><span style=\"font-weight: 400\">Prenatal cfdna tests are non-invasive testing measures that analyze the cell free DNA of a pregnant person\u2019s blood, as it contains both maternal and fetal DNA. The chromosomal abnormalities that may be detected include <\/span><i><span style=\"font-weight: 400\">Trisomy<\/span><\/i><span style=\"font-weight: 400\">, which is three chromosome copies instead of what is typically two,<\/span><i><span style=\"font-weight: 400\"> Monosomy<\/span><\/i><span style=\"font-weight: 400\">, which is the absence of one of the two chromosome copies. Finally, <\/span><i><span style=\"font-weight: 400\">Microdeletion<\/span><\/i><span style=\"font-weight: 400\"> is when there is a small part of a chromosome missing.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400\">These are some of the most common chromosome disorders:<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\"><span style=\"font-weight: 400\">Downs Syndrome (Trisomy 21)<\/span><\/span>Down&#8217;s Syndrome is caused by an additional copy of chromosome 21 and is newborns\u2019 most common chromosome disorder. This may point to future learning disabilities, whether mild or moderate, and other developmental impairments.\n<p>&nbsp;<\/li>\n<li style=\"font-weight: 400\">Edward\u2019s Syndrome (Trisomy 18)Edward\u2019s Syndrome is due to an extra copy of chromosome 18 and is less common than Downs in newborns. Edward\u2019s Syndrome is more severe. Many newborns with this chromosome disorder do not live past age one.<\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\"><span style=\"font-weight: 400\">Patau syndrome (Trisomy 13)<\/span><\/span>Patau Syndrome is caused by an extra copy of chromosome 13. It is even rarer, but most newborns do not live past one year of age, similar to Edward\u2019s syndrome.\n<p>&nbsp;<\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\"><span style=\"font-weight: 400\">Alterations in X and Y sex chromosomes are other disorders that are less severe than trisomies.<\/span><\/span>Depending on what you wish to test for and whether your pregnancy is at risk with one or multiple chromosomal abnormalities, your doctor can help you determine and ultimately recommend which screenings and tests are right for you and your needs. We understand that choosing to undergo a screening and waiting for results can cause stress and anxiety, and that is normal! Your doctor and\/or genetic counselor are here to support you through this process.<\/li>\n<\/ol>\n<h2><b>When is a Cell Free DNA Test Recommended?\u00a0<\/b><\/h2>\n<p><span style=\"font-weight: 400\">Prenatal cfdna screening is recommended when you are at least ten weeks pregnant, and you have received adequate counseling regarding all of your options. The benefits and limits of cell free DNA screening and diagnostic testing in the first or second trimester vary from patient to patient. After consulting your doctor or a genetic counselor, you can be better equipped to decide whether a cell free DNA test is right for you, if it will benefit you, and how you can expect to interpret your results.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400\">While first and second-trimester diagnostic testing options are available, such as a quad screen, cell free DNA screening can be more specific and sensitive than traditional screening options. It is also more helpful for women who may not want to undergo invasive testing with a slight risk of miscarriage, like CVS, chorionic villus sampling, or amniocentesis. It is important to know that cfdna tests are less effective under the following circumstances:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you are less than ten weeks pregnant<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you are taking certain medications, like blood thinners<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you are pregnant as a gestational carrier\u00a0<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you become pregnant through egg donation<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you are pregnant with multiples, such as twins or triplets<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">If you have a BMI (body mass index) of 30 or more<\/span><\/li>\n<\/ul>\n<h2><b>How to Prepare for your Cell Free DNA Screening\u00a0<\/b><\/h2>\n<p><span style=\"font-weight: 400\">If you are interested in undergoing prenatal cfdna testing, we recommend that you speak to your provider and first check to see if your health insurance will cover the cost of the testing. Before the screening, your OBGYN or genetic counselor will go through all of the possible outcomes of your test and what the results could mean for you and your baby. This is the time to ask any questions or raise any concerns about the screening process.\u00a0<\/span><\/p>\n<h2><b>What to Expect During a Cell Free DNA Test<\/b><\/h2>\n<p><span style=\"font-weight: 400\">During the cfdna screening, DNA is extracted from both a mother and their fetus from a maternal blood sample. This sample is then screened for certain chromosomes that may signify developmental health conditions such as Down&#8217;s syndrome (trisomy 21)\u00a0 or another disorder caused by a trisomy, such as a trisomy 13 or trisomy 18. The cell free DNA test can also provide you and your doctor information about fetal sex.<\/span><\/p>\n<p><span style=\"font-weight: 400\">Some cfdna tests may additionally screen for increased chances of:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Trisomy 16<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Trisomy 22<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Triploidy<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Aneuploidy of sex chromosomes\u00a0<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Chromosomal deletion disorders, such as microdeletion syndrome<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Single-gene disorders<\/span><\/li>\n<\/ul>\n<h2><b>What to Expect After Your Screening\u00a0<\/b><\/h2>\n<p><span style=\"font-weight: 400\">During prenatal cfdna screenings, a blood sample is taken from the mother and sent off to a lab in which the sample is analyzed. The lab will look out for higher ratios of chromosome 21 sequences, which may point to conditions like Downs syndrome. Results usually come back within seven days of the initial test. The way the results are reported depends on the lab, meaning your results could read as follows:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Positive or negative<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">High risk or low risk of abnormality<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Probability of abnormality\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400\">Suppose your cfdna test was to come back, noting that there is an increased risk of a chromosomal abnormality. In that case, your doctor may recommend CVS or amniocentesis to confirm or deny the test\u2019s diagnosis. If the fetus is diagnosed with a chromosomal abnormality, it is important to remember that these findings cannot be reversed. Your doctor will be there to support you through the difficult decision of whether you will want to continue your pregnancy or what steps you will have to take when caring for your baby during pregnancy and after their delivery.<\/span><\/p>\n<p><span style=\"font-weight: 400\">Suppose you have predisposing risk factors that could be suggestive of your baby having an increased risk of a chromosomal or genetic condition. In that case, procedures such as amniocentesis or CVS are an option regardless of your cell free DNA results.\u00a0<\/span><\/p>\n<h2><b>Cell Free DNA Screening Risk Factors<\/b><\/h2>\n<p><img decoding=\"async\" class=\"aligncenter wp-image-1179 size-full\" src=\"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors.jpg\" alt=\"Young Pregnant Woman With Doctor in Hospital\" width=\"1000\" height=\"667\" srcset=\"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-200x133.jpg 200w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-300x200.jpg 300w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-400x267.jpg 400w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-600x400.jpg 600w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-768x512.jpg 768w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors-800x534.jpg 800w, https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-content\/uploads\/sites\/35\/2021\/10\/Cell-Free-DNA-Screening-Risk-Factors.jpg 1000w\" sizes=\"(max-width: 1000px) 100vw, 1000px\" \/><\/p>\n<p><span style=\"font-weight: 400\">Rarely, between 1-5% of prenatal cfdna tests can be ineffective and do not come back with results due to not having enough DNA sampled to conduct the test. Additionally, a negative test is not conclusive in determining whether your pregnancy is unaffected, as cfdna tests do not screen for all genetic and chromosomal conditions. On a positive note, a prenatal cell free DNA test poses no physical risk to you or your baby. It can even more positively help you avoid more invasive testing, monitoring, or treatments during your pregnancy.\u00a0<\/span><\/p>\n<h2><b>Choosing Trogolo for Your Care<\/b><\/h2>\n<p><span style=\"font-weight: 400\">Are you a high-risk carrier? Do you want to find the best comprehensive and compassionate OB GYN care that Northeast Florida has to offer? At <\/span><a href=\"\/trogolo-obstetrics-and-gynecology\/about\/\" target=\"_blank\" rel=\"noopener\"><span style=\"font-weight: 400\">Trogolo Obstetrics and Gynecology<\/span><\/a><span style=\"font-weight: 400\"> in Jacksonville, Florida, we provide services to help manage high-risk pregnancies and various conditions or complications that may arise during pregnancy. Here are some things our practice is prepared to manage and treat:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400\"><a href=\"https:\/\/www.diabetes.org\/diabetes\/gestational-diabetes\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">Gestational Diabetes<\/span><\/a><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Gestational Hypertension<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Blood Disorders<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Advanced Maternal Age<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Placenta Previa<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Multiples Gestations<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Preterm Labor\u00a0<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Preeclampsia<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">And more!<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400\">Additional services offered by our obstetricians include:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Obstetrical Ultrasounds<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Genetic Screening<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Cord Blood Banking<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Pre-conceptual Counseling\u00a0<\/span><\/li>\n<li style=\"font-weight: 400\"><span style=\"font-weight: 400\">Infertility Counseling and Management<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400\">Trogolo Obstetrics and Gynecology is dedicated to helping the women of Jacksonville, Florida, have healthy pregnancies and deliveries. Give us a call or visit our website today to learn more about us, the services we offer, and how we can help you! Whether you are already pregnant or are thinking of becoming pregnant, it is never too early to look for quality care, and it is never too late to find the quality care you deserve.\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>What is Cell Free DNA? You may be wondering, \u201cWhat is cell free DNA?\u201d In medical terms, cell free DNA<\/p>\n","protected":false},"author":3,"featured_media":1177,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_links_to":"","_links_to_target":""},"categories":[14,138],"tags":[141,140,139,142,144,143],"class_list":["post-1176","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog","category-dna-testing","tag-cell-free-dna","tag-cell-free-dna-test","tag-cfdna","tag-cfdna-tests","tag-what-does-cell-free-dna-test-for","tag-what-is-cell-free-dna"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/posts\/1176","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/comments?post=1176"}],"version-history":[{"count":0,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/posts\/1176\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/media\/1177"}],"wp:attachment":[{"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/media?parent=1176"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/categories?post=1176"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.toplinemd.com\/trogolo-obstetrics-and-gynecology\/wp-json\/wp\/v2\/tags?post=1176"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}