Test genético prenatal en sangre materna


Fundamentos del estudio

Las anomalías cromosómicas son causantes de una elevada proporción de abortos espontáneos y enfermedades infantiles, contribuyendo también al desarrollo de procesos malignos tanto en la edad infantil como adulta. Estas alteraciones son la primera causa de pérdidas embrionarias y fetales del primer trimestre, presentando aproximadamente el 50% de los abortos espontáneos alguna alteración cromosómica del tipo trisomía, poliploidía o monosomía, entre otras.

El riesgo de que el feto presente anomalías cromosómicas aumenta a medida que aumenta la edad gestacional de la madre, creciendo drásticamente después de los 35 años. Por todo ello, el diagnóstico prenatal temprano de anomalías cromosómicas es una herramienta esencial y necesaria en el control prenatal actual.
Para este propósito, surge el Test Prenatal No invasivo (NIPT según sus siglas en inglés), un ensayo de screening que proporciona respuestas sobre la posible presencia de anomalías cromosómicas fetales sin riesgo para la madre ni el feto.

Esta prueba analiza los fragmentos de ADN fetal liberados del trofoblasto placentario, y que circulan libremente en la sangre materna, siendo posible identificar qué individuos están en riesgo y para cuáles se recomienda una investigación adicional mediante técnicas diagnósticas invasivas como amniocentesis o la biopsia de vellosidades coriónicas.

Este estudio determina el posible riesgo del feto de presentar trisomías, es decir, alteraciones que ocurren cuando un individuo presenta un cromosoma adicional en comparación con el par cromosómico habitual, aneuploidías cromosómicas sexuales (variaciones en el número de cromosomas X e Y), opcionalmente, el sexo fetal, así como también en forma incidental, puede detectar aneuploidías menos frecuentes, en cromosomas 7, 9, 14, 15, 16 y 22, algunas de ellas asociadas a pérdidas de embarazo y retardo intrauterino de crecimiento
Esta prueba es adecuada para todas las mujeres embarazadas ya que evita los riesgos asociados a las pruebas de diagnóstico invasivas, y se puede realizar desde la 9ª semana de embarazo en adelante.

Metodología: NGS Next Generation Sequencing

Tras la extracción de una muestra de sangre de la madre, esta prueba analiza los fragmentos de ADN fetal que son liberados y circulan libremente en la sangre materna. A continuación, el test permite el análisis del ADN fetal mediante Secuencia Masiva Paralela, haciendo posible la detección de:

– Trisomía 21 (Síndrome de Down)
– Trisomía 18 (Síndrome de Edwards)
– Trisomía 12 (Síndrome de Patau)

Aneuploidías cromosómicas sexuales
– Síndrome de Turner (45,X)
– Síndrome de Klinefelter (47, XXY)
– Trisomía del cromosoma X (47, XXX)
– Síndrome de Jacobs o Disomía del Y (47, XYY)

Sexo fetal

Hallazgos incidentales: aneuploidías de cromosomas 7, 9, 14, 15, 16 y 22
Esta prueba es capaz de proporcionar respuestas incluso si la fracción fetal está entre el 3 y el 4%, lo que reduce el número de pruebas invasivas innecesarias evitando el riesgo tanto fetal como materno.

Esta entrada tiene 253 comentarios

  1. CharlesNargy

    safe and effective drugs are available.
    canadian pharmacy 1 internet online drugstore canadian pharmacy uk delivery
    Learn about the side effects, dosages, and interactions.

  2. Darylvob

    buy amoxicillin online no prescription: https://amoxicillins.com/# where to buy amoxicillin 500mg without prescription

  3. LarryTwews

    [url=https://propecia1st.science/#]cost propecia tablets[/url] cost of cheap propecia without insurance

  4. Real Estate Bhopal

    My brother suggested I might like this blog. He was entirely right. This post actually made my day. You cann’t imagine just how much time I had spent for this information! Thanks!

  5. ScottTug

    ed pills online: drugs for ed – natural ed remedies

  6. CharlesNargy

    Get here.
    amoxicillin 500mg capsules price buy amoxicillin online with paypal – amoxicillin cost australia
    Learn about the side effects, dosages, and interactions.

  7. LarryTwews

    top ed drugs [url=http://cheapestedpills.com/#]ed pills cheap[/url] п»їerectile dysfunction medication

  8. Jamesges

    cheap erectile dysfunction pills [url=https://cheapestedpills.com/#]natural ed remedies[/url] medication for ed

  9. bingo plus

    Audio started playing any time I opened up this blog, so annoying!

  10. Psychic Parties

    What i do not realize is actually how you’re not really much more well-liked than you might be now. You’re so intelligent. You realize thus significantly relating to this subject, produced me personally consider it from a lot of varied angles. Its like men and women aren’t fascinated unless it?s one thing to do with Lady gaga! Your own stuffs great. Always maintain it up!

  11. link bokep

    I have realized some important things through your blog post post. One other subject I would like to talk about is that there are lots of games out there designed in particular for toddler age kids. They incorporate pattern identification, colors, wildlife, and models. These often focus on familiarization rather than memorization. This will keep a child engaged without having the experience like they are learning. Thanks

  12. kontol kuda

    Good ? I should certainly pronounce, impressed with your web site. I had no trouble navigating through all the tabs and related information ended up being truly simple to do to access. I recently found what I hoped for before you know it at all. Quite unusual. Is likely to appreciate it for those who add forums or anything, web site theme . a tones way for your customer to communicate. Nice task..

  13. Albertmen

    purple pharmacy mexico price list: mexican drugstore online – mexico pharmacies prescription drugs

  14. FreddyBub

    indian pharmacy: india pharmacy – indian pharmacy paypal

  15. I have figured out some significant things through your blog post post. One other thing I would like to state is that there are lots of games out there designed especially for toddler age little ones. They incorporate pattern acknowledgement, colors, family pets, and styles. These normally focus on familiarization as an alternative to memorization. This makes children occupied without experiencing like they are studying. Thanks

  16. Great blog post. What I would like to make contributions about is that computer memory is required to be purchased should your computer is unable to cope with everything you do by using it. One can mount two good old ram boards containing 1GB each, in particular, but not certainly one of 1GB and one with 2GB. One should make sure the company’s documentation for one’s PC to be certain what type of ram is needed.

  17. houston strippers

    Thanks a lot for the helpful write-up. It is also my opinion that mesothelioma cancer has an really long latency time period, which means that signs and symptoms of the disease won’t emerge right up until 30 to 50 years after the original exposure to mesothelioma. Pleural mesothelioma, that is certainly the most common form and impacts the area about the lungs, might cause shortness of breath, breasts pains, and also a persistent coughing, which may result in coughing up maintain.

  18. MichaelBeili

    neurontin brand coupon [url=http://gabapentin.pro/#]neurontin 300 mg buy[/url] neurontin generic brand

  19. Thanks a lot for the helpful post. It is also my belief that mesothelioma cancer has an incredibly long latency period, which means that signs and symptoms of the disease might not emerge till 30 to 50 years after the preliminary exposure to asbestos. Pleural mesothelioma, and that is the most common variety and affects the area around the lungs, might result in shortness of breath, chest pains, including a persistent coughing, which may bring about coughing up body.

  20. MichaelBeili

    how to buy zithromax online [url=http://azithromycin.men/#]can i buy zithromax over the counter in canada[/url] buy zithromax online

  21. Woah! I’m really digging the template/theme of this site. It’s simple, yet effective. A lot of times it’s tough to get that “perfect balance” between superb usability and visual appearance. I must say you have done a amazing job with this. Also, the blog loads extremely fast for me on Safari. Excellent Blog!

  22. how to start an iso

    I don?t even know how I ended up here, but I thought this post was great. I don’t know who you are but definitely you are going to a famous blogger if you are not already 😉 Cheers!

  23. Antoniorek

    https://avodart.pro/# buy generic avodart without dr prescription
    Abortion pills online [url=http://misoprostol.guru/#]cytotec online[/url] Misoprostol 200 mg buy online

  24. excellent post, very informative. I wonder why the other specialists of this sector don’t notice this. You should continue your writing. I am confident, you have a great readers’ base already!

  25. strippers near me

    An interesting discussion is price comment. I believe that you should write more on this matter, it may not be a taboo topic but usually persons are not enough to talk on such topics. To the next. Cheers

  26. Antoniorek

    https://ciprofloxacin.ink/# cipro pharmacy
    ciprofloxacin order online [url=http://ciprofloxacin.ink/#]buy generic ciprofloxacin[/url] buy ciprofloxacin

  27. Thanks for your posting. Another element is that being photographer includes not only issues in taking award-winning photographs but hardships in acquiring the best dslr camera suited to your requirements and most especially situations in maintaining the standard of your camera. This can be very accurate and evident for those photography enthusiasts that are in to capturing the particular nature’s exciting scenes – the mountains, the forests, the particular wild or seas. Visiting these exciting places undoubtedly requires a digital camera that can meet the wild’s harsh landscapes.

  28. Antoniorek

    https://misoprostol.guru/# cytotec abortion pill
    lipitor generic coupon [url=https://lipitor.pro/#]lipitor purchase[/url] lipitor 40 mg cost

  29. Antoniorek

    https://avodart.pro/# can i order cheap avodart without insurance
    where to buy lisinopril without prescription [url=https://lisinopril.pro/#]generic lisinopril[/url] order lisinopril 20mg

  30. kontol kuda

    Hello my friend! I wish to say that this article is awesome, nice written and include approximately all vital infos. I?d like to see more posts like this.

  31. Fantastic blog you have here but I was wondering if you knew of any community forums that cover the same topics discussed here? I’d really like to be a part of community where I can get responses from other knowledgeable people that share the same interest. If you have any suggestions, please let me know. Cheers!

  32. PCB assembly

    It’s perfect time to make some plans for the future and it is time to be happy. I’ve read this post and if I could I wish to suggest you few interesting things or advice. Maybe you can write next articles referring to this article. I wish to read more things about it!

  33. ZacharyNoG

    buy medicines online in india [url=http://indiapharmacy.cheap/#]best online pharmacy india[/url] reputable indian online pharmacy

  34. Through my notice, shopping for technology online can for sure be expensive, however there are some tips and tricks that you can use to help you get the best products. There are generally ways to discover discount discounts that could make one to possess the best electronics products at the smallest prices. Thanks for your blog post.

  35. Greetings I am so grateful I found your blog, I really
    found you by accident, while I was searching on Bing for
    something else, Nonetheless I am here now and would just like to say kudos
    for a remarkable post and a all round exciting blog (I also love the theme/design), I don’t have time to read
    through it all at the minute but I have bookmarked it and also included your RSS feeds,
    so when I have time I will be back to read more, Please do
    keep up the fantastic b.

  36. Live Singapore

    What an insightful and well-researched article! The author’s attention to detail and aptitude to present complicated ideas in a understandable manner is truly commendable. I’m thoroughly impressed by the scope of knowledge showcased in this piece. Thank you, author, for offering your wisdom with us. This article has been a real game-changer!

  37. RodneyExted

    брилкс казино
    Вас ждет огромный выбор игровых аппаратов, способных удовлетворить даже самых изысканных игроков. Брилкс Казино знает, как удивить вас каждым спином. Насладитесь блеском и сиянием наших игр, ведь каждый слот — это как бриллиант, который только ждет своего обладателя. Неважно, играете ли вы ради веселья или стремитесь поймать удачу за хвост и выиграть крупный куш, Brillx сделает все возможное, чтобы удовлетворить ваши азартные желания.В 2023 году Brillx предлагает совершенно новые уровни азарта. Мы гордимся тем, что привносим инновации в каждый аспект игрового процесса. Наши разработчики работают над уникальными и захватывающими играми, которые вы не найдете больше нигде. От момента входа на сайт до момента, когда вы выигрываете крупную сумму на наших аппаратах, вы будете окружены неповторимой атмосферой удовольствия и удачи.

  38. We absolutely love your blog and find a lot of your post’s to be exactly
    what I’m looking for. Would you offer guest writers to write content
    for you? I wouldn’t mind producing a post or elaborating on a few of the subjects you write concerning here.
    Again, awesome site!

  39. Rzoarf

    buy betahistine 16mg online cheap haldol price buy generic probenecid online

  40. kontol kuda

    Aw, this was a very nice post. In thought I would like to put in writing like this moreover ? taking time and precise effort to make an excellent article? however what can I say? I procrastinate alot and by no means appear to get one thing done.

  41. Eve

    bookmarked!!, I really like your website!

  42. Everything is very open with a clear description of
    the issues. It was really informative. Your site is extremely
    helpful. Thank you for sharing!

  43. excellent points altogether, you simply gained a new reader. What would you suggest in regards to your post that you made some days ago? Any positive?

  44. Hi! I could have sworn I’ve been to this website before but after browsing through some of the post I realized it’s new to me. Nonetheless, I’m definitely happy I found it and I’ll be bookmarking and checking back often!

  45. Very good blog! Do you have any recommendations for aspiring writers? I’m planning to start my own site soon but I’m a little lost on everything. Would you recommend starting with a free platform like WordPress or go for a paid option? There are so many options out there that I’m completely confused .. Any ideas? Thanks a lot!

  46. JefferyNet

    saferonlinepharmacy [url=https://interpharm.pro/#]online pharmacies no prescription usa[/url] canada online pharmacy

  47. 인천출장안마

    I might also like to say that most of those that find themselves without the need of health insurance are normally students, self-employed and those that are laid-off. More than half of the uninsured are really under the age of 35. They do not come to feel they are requiring health insurance simply because they’re young and healthy. Its income is frequently spent on real estate, food, along with entertainment. Many individuals that do represent the working class either entire or in their free time are not made available insurance via their jobs so they proceed without as a result of rising price of health insurance in the United States. Thanks for the ideas you write about through this blog.

  48. Appreciate you for sharing these types of wonderful blogposts. In addition, the best travel and also medical insurance plan can often eliminate those problems that come with visiting abroad. Your medical crisis can shortly become too expensive and that’s guaranteed to quickly place a financial impediment on the family finances. Setting up in place the best travel insurance deal prior to setting off is definitely worth the time and effort. Cheers

  49. Holy cow! I’m in awe of the author’s writing skills and talent to convey complicated concepts in a concise and clear manner. This article is a real treasure that deserves all the accolades it can get. Thank you so much, author, for offering your knowledge and offering us with such a valuable asset. I’m truly appreciative!

  50. I’m truly impressed by the way you effortlessly distill intricate concepts into easily digestible information. Your writing style not only imparts knowledge but also engages the reader, making the learning experience both enjoyable and memorable. Your passion for sharing your expertise is unmistakable, and for that, I am deeply grateful.

  51. black cardboard box

    Excellent blog right here! Also your website rather a lot up very fast! What web host are you the usage of? Can I am getting your associate link for your host? I wish my web site loaded up as quickly as yours lol

  52. Hi are using WordPress for your blog platform? I’m new to the
    blog world but I’m trying to get started and set up my
    own. Do you require any coding knowledge to make your own blog?
    Any help would be greatly appreciated!

  53. obviously like your web site but you have to test the
    spelling on quite a few of your posts. Several of them are rife
    with spelling problems and I find it very bothersome to tell the truth on the other hand I’ll
    certainly come back again.

  54. Thomasorila

    farmacia online piГ№ conveniente [url=http://farmaciaonline.men/#]п»їfarmacia online migliore[/url] farmacie online affidabili

  55. 출장마사지

    Your enthusiasm for the subject matter shines through every word of this article; it’s infectious! Your commitment to delivering valuable insights is greatly valued, and I eagerly anticipate more of your captivating content. Keep up the exceptional work!

  56. Remarkable! Its in fact remarkable paragraph, I have got much clear idea about from this piece of writing.

  57. Chelsey

    Very good post. I’m experiencing some of these issues
    as well..

  58. Yet another thing is that while searching for a good on the internet electronics retail outlet, look for web stores that are constantly updated, always keeping up-to-date with the most current products, the most beneficial deals, in addition to helpful information on product or service. This will make sure that you are handling a shop which stays atop the competition and provides you what you ought to make educated, well-informed electronics expenditures. Thanks for the critical tips I have really learned through the blog.

  59. 출장마사지

    Your storytelling abilities are nothing short of incredible. Reading this article felt like embarking on an adventure of its own. The vivid descriptions and engaging narrative transported me, and I can’t wait to see where your next story takes us. Thank you for sharing your experiences in such a captivating way.

  60. 출장안마

    Your blog is a true gem in the vast expanse of the online world. Your consistent delivery of high-quality content is truly commendable. Thank you for consistently going above and beyond in providing valuable insights. Keep up the fantastic work!

  61. Greetings! This is my first visit to your blog! We are a collection of volunteers and starting a new project in a community in the same niche. Your blog provided us valuable information to work on. You have done a outstanding job!

  62. For the reason that the admin of this web page is working, no hesitation very shortly it will be
    renowned, due to its quality contents.

  63. wonderful post, very informative. I wonder why the other experts of this sector don’t notice this. You must continue your writing. I am confident, you have a great readers’ base already!

  64. RickeySop

    acheter sildenafil 100mg sans ordonnance

  65. bokep indo

    I used to be recommended this web site through my cousin. I am now not certain whether or not this publish is written via him as nobody else know such exact approximately my difficulty. You’re incredible! Thank you!

  66. film porno

    hi!,I like your writing very much! share we communicate more about your post on AOL? I need an expert on this area to solve my problem. May be that’s you! Looking forward to see you.

  67. RickeySop

    п»їpharmacie en ligne – Pharmacie en ligne France

  68. Heya i am for the first time here. I came across this board and I find It really useful & it helped
    me out a lot. I hope to give something back and aid others like you aided me.

  69. 출장마사지

    I wanted to take a moment to express my gratitude for the wealth of invaluable information you consistently provide in your articles. Your blog has become my go-to resource, and I consistently emerge with new knowledge and fresh perspectives. I’m eagerly looking forward to continuing my learning journey through your future posts.

  70. 제주출장안마

    Your positivity and enthusiasm are undeniably contagious! This article brightened my day and left me feeling inspired. Thank you for sharing your uplifting message and spreading positivity among your readers.

  71. 창원출장안마

    I couldn’t agree more with the insightful points you’ve made in this article. Your depth of knowledge on the subject is evident, and your unique perspective adds an invaluable layer to the discussion. This is a must-read for anyone interested in this topic.

  72. Hey there would you mind letting me know which
    webhost you’re working with? I’ve loaded your blog in 3 different
    web browsers and I must say this blog loads a lot quicker then most.
    Can you suggest a good hosting provider at a fair price? Cheers, I appreciate it!

  73. Thanks for the marvelous posting! I definitely enjoyed reading
    it, you will be a great author. I will always bookmark your blog and will often come back
    at some point. I want to encourage yourself to continue your great posts, have a nice weekend!

  74. 출장안마

    I want to express my sincere appreciation for this enlightening article. Your unique perspective and well-researched content bring a fresh depth to the subject matter. It’s evident that you’ve invested considerable thought into this, and your ability to convey complex ideas in such a clear and understandable way is truly commendable. Thank you for generously sharing your knowledge and making the learning process enjoyable.

  75. This article resonated with me on a personal level. Your ability to emotionally connect with your audience is truly commendable. Your words are not only informative but also heartwarming. Thank you for sharing your insights.

  76. I am continually impressed by your ability to delve into subjects with grace and clarity. Your articles are both informative and enjoyable to read, a rare combination. Your blog is a valuable resource, and I am sincerely grateful for it.

  77. nick difrancesco

    Thank you for some other magnificent article. The place else may just anybody get that kind of info in such a perfect means of writing? I have a presentation subsequent week, and I am on the look for such info.

  78. 출장마사지

    I’ve discovered a treasure trove of knowledge in your blog. Your unwavering dedication to offering trustworthy information is truly commendable. Each visit leaves me more enlightened, and I deeply appreciate your consistent reliability.

  79. Your blog is a true gem in the vast expanse of the online world. Your consistent delivery of high-quality content is truly commendable. Thank you for consistently going above and beyond in providing valuable insights. Keep up the fantastic work!

  80. Write more, thats all I have to say. Literally, it seems as though you relied on the video to make your point. You clearly know what youre talking about, why waste your intelligence on just posting videos to your site when you could be giving us something enlightening to read?

  81. I simply wanted to convey how much I’ve gleaned from this article. Your meticulous research and clear explanations make the information accessible to all readers. It’s abundantly clear that you’re committed to providing valuable content.

  82. FelixBip

    top online pharmacy india: india pharmacy – indianpharmacy com

  83. link bokep

    Hello my friend! I want to say that this post is amazing, nice written and include approximately all significant infos. I?d like to see more posts like this.

Deja un comentario