{"id":64910,"date":"2023-07-07T12:53:59","date_gmt":"2023-07-07T10:53:59","guid":{"rendered":"https:\/\/www.juanacrespo.es\/test-prenatal-no-invasivo\/"},"modified":"2024-06-05T16:15:40","modified_gmt":"2024-06-05T15:15:40","slug":"non-invasive-prenatal-testing","status":"publish","type":"post","link":"https:\/\/www.old.juanacrespo.es\/en\/non-invasive-prenatal-testing\/","title":{"rendered":"What is Non-Invasive Prenatal Testing and who needs it?"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p><span style=\"font-weight: 400;\">During pregnancy, women may undergo various tests to ensure that the developing baby does not suffer from <\/span><b>genetic alterations or congenital malformations<\/b><span style=\"font-weight: 400;\">.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Non-invasive prenatal testing presents a safe, rapid, and risk-free alternative for both the mother and the baby.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">To conduct this test, only <\/span><b>a blood sample needs to be extracted from the pregnant woman<\/b><span style=\"font-weight: 400;\">, akin to a routine blood test, for analysis in the laboratory.<\/span><\/p>\n<h2><strong>Why is prenatal diagnosis important?<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">According to the <\/span><i><span style=\"font-weight: 400;\">Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras<\/span><\/i><span style=\"font-weight: 400;\"> (Spanish Federation of Rare Diseases), there are between 5,000 and 7,000 rare diseases, with <\/span><b>80% of them originating from genetics <\/b><span style=\"font-weight: 400;\">and capable of being inherited by our offspring.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">It&#8217;s estimated that <\/span><b>3-4% of newborns will be affected <\/b><span style=\"font-weight: 400;\">by one of these conditions.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Furthermore,<\/span><b> chromosomal abnormalities directly account for 50% of spontaneous abortions<\/b><span style=\"font-weight: 400;\">.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The term &#8220;prenatal diagnosis&#8221; encompasses a range of techniques used to detect fetal abnormalities.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Fetal abnormalities are understood as any alterations in the morphological, structural, functional, or molecular development of the fetus, both external and internal, sporadic, hereditary, unique, or multiple.<\/span><\/p>\n<p><span style=\"font-weight: 400;\"> <\/span><a href=\"https:\/\/www.juanacrespo.es\/en\/genetic-compatibility-testing\/\"><span style=\"font-weight: 400;\">Learn about genetic compatibility testing<\/span><\/a><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The techniques currently employed for prenatal diagnosis are very precise and allow the detection of congenital defects to adopt the most responsible measures during gestation and childbirth, safeguarding the health of the mother and child and improving the diagnosis of the newborn.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">In summary, the advantages of prenatal diagnostic tests include:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Early detection of fetal abnormalities.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Early treatment of diseases in the baby.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Enhanced control during delivery.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Medical counseling for future parents.<\/span><\/li>\n<\/ul>\n<h2><strong>Types of prenatal diagnosis<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">Prenatal diagnostic techniques can be either non-invasive or invasive.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">Non-invasive diagnosis<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">These are simple tests that pose no risk to either the mother or the fetus.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">In this group, we would find:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Pregnancy monitoring ultrasounds<\/b><span style=\"font-weight: 400;\"> (very useful for diagnosing fetal malformations).<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Doppler ultrasounds <\/b><span style=\"font-weight: 400;\">(important for studying anomalies in the fetal and placental circulatory system).<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Fetal DNA analysis in maternal blood <\/b><span style=\"font-weight: 400;\">(it is the most popular genetic test during pregnancy and consists of analyzing fetal DNA that circulates freely through the maternal bloodstream thanks to a blood sample).<\/span><\/li>\n<\/ul>\n<h3><span style=\"font-weight: 400;\">Invasive diagnosis<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">They involve making a puncture or biopsy to reach the gestational sac or placenta and take a sample, which can jeopardize the pregnancy.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Within this second group, we can highlight:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Amniocentesis<\/b><span style=\"font-weight: 400;\"> (extraction of amniotic fluid through a transabdominal puncture guided by ultrasound).<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Chorionic villus sampling<\/b><span style=\"font-weight: 400;\"> (obtaining a small portion of tissue from the chorionic villi of the placenta using forceps or a catheter transvaginally (through the vagina) or transabdominally (piercing through the abdomen)).<\/span><\/li>\n<\/ul>\n<h2><strong>When should the non-invasive test for the detection of chromosomal abnormalities be done?<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">The objective of the non-invasive test is to detect and quantify specific fragments of fetal DNA present in the maternal bloodstream from the <\/span><b>9th week of pregnancy <\/b><span style=\"font-weight: 400;\">(from the 10th week, its sensitivity increases to 99%).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">To perform this test, only a blood sample from the pregnant woman needs to be extracted and analyzed.<\/span><\/p>\n<h2><strong>What type of alterations does this test detect?<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">Although its capacity is limited, non-invasive prenatal testing allows the detection of many genetic and chromosomal abnormalities, including:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Down syndrome (Trisomy 21)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Edwards syndrome (Trisomy 18)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Patau syndrome (Trisomy 13)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Turner syndrome (X0)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Sex chromosome trisomies (Klinefelter syndrome (XXY), Jacobs syndrome (XYY), Triple X syndrome (XXX), or 22q deletion syndrome)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Microdeletions (Angelman syndrome, Prader-Willi syndrome, Cri-du-chat syndrome, or 1p36 deletion 5-17%)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Triploidy (69 chromosomes)<\/span><\/li>\n<\/ul>\n<h2><strong>Interpretation and confirmation of results<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">Non-invasive prenatal testing is very simple to perform, and results are obtained in a few days (on average, it takes a week).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The test result will be<\/span><b> LOW PROBABILITY<\/b><span style=\"font-weight: 400;\"> or <\/span><b>HIGH PROBABILITY<\/b><span style=\"font-weight: 400;\">, with a test efficacy of up to 99%.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">It is important to note that NIPT is a screening test, not a definitive diagnosis.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">In the case of a high probability, the <\/span><b>diagnosis must be confirmed with an invasive test <\/b><span style=\"font-weight: 400;\">that allows confirming the presence of:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Chromosomal abnormalities.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Hereditary genetic diseases.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Fetal malformations.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Infections.<\/span><\/li>\n<\/ul>\n<h2><strong>In what cases is it recommended to do a genetic test during pregnancy?<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">Fetal DNA testing is a recommended test for all pregnant women who have completed the <\/span><b>10th week of gestation<\/b><span style=\"font-weight: 400;\">.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Nevertheless, it is especially important to do it in:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Advanced maternal age women (from 38 years old).<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">High-risk results in biochemical or ultrasound screening in the first trimester.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">History of pregnancies with chromosomal abnormalities.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Naturally conceived pregnancies.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.juanacrespo.es\/en\/treatment\/in-vitro-fertilization\/\"><span style=\"font-weight: 400;\">IVF<\/span><\/a><span style=\"font-weight: 400;\"> pregnancies, both with own and donated gametes.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Twin pregnancies.<\/span><\/li>\n<\/ul>\n<h3><strong>And what happens in assisted reproduction treatments with PGT?<\/strong><\/h3>\n<p><span style=\"font-weight: 400;\">When <\/span><b>PGT<\/b><span style=\"font-weight: 400;\"> (<\/span><a href=\"https:\/\/www.juanacrespo.es\/en\/treatment\/pgt\/\"><span style=\"font-weight: 400;\">Preimplantation Genetic Testing<\/span><\/a><span style=\"font-weight: 400;\">) is performed to select the genetically healthiest embryos, fetal chromosomes have already been directly studied, so non-invasive prenatal testing is usually not necessary.<\/span><\/p>\n<h2><strong>What is the price of non-invasive prenatal testing?<\/strong><\/h2>\n<p><span style=\"font-weight: 400;\">Non-invasive prenatal testing has multiple advantages compared to other prenatal tests, hence its popularity.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">The most important ones are:<\/span><\/p>\n<ol>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Early diagnosis.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Simplicity.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Speed.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Safety.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Accuracy.<\/span><\/li>\n<\/ol>\n<p><span style=\"font-weight: 400;\">If you want to know the price of non-invasive prenatal testing, are interested, or have doubts about this <\/span><a href=\"https:\/\/www.juanacrespo.es\/en\/specialty\/reproductive-genetics\/\"><span style=\"font-weight: 400;\">prenatal diagnostic test<\/span><\/a><span style=\"font-weight: 400;\">, <\/span><a href=\"https:\/\/www.juanacrespo.es\/en\/contact\/\"><span style=\"font-weight: 400;\">call us or write to us<\/span><\/a><span style=\"font-weight: 400;\"> without obligation.<\/span><\/p>\n<\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":20,"featured_media":57850,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","footnotes":""},"categories":[66,924],"tags":[],"class_list":["post-64910","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog","category-especialidad-genetica-reproductiva-en"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/posts\/64910","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/users\/20"}],"replies":[{"embeddable":true,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/comments?post=64910"}],"version-history":[{"count":2,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/posts\/64910\/revisions"}],"predecessor-version":[{"id":64913,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/posts\/64910\/revisions\/64913"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/media\/57850"}],"wp:attachment":[{"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/media?parent=64910"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/categories?post=64910"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.old.juanacrespo.es\/en\/wp-json\/wp\/v2\/tags?post=64910"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}