{"id":31527,"date":"2026-04-22T16:48:57","date_gmt":"2026-04-22T14:48:57","guid":{"rendered":"https:\/\/clinicafertia.com\/blog\/calcolo-del-rischio-di-sindrome-di-down-cosa-si-valuta-nellecografia-della-12a-settimana"},"modified":"2026-07-25T17:26:10","modified_gmt":"2026-07-25T15:26:10","slug":"down-syndrome-risk-assessment-what-is-evaluated-during-the-12-week-ultrasound","status":"publish","type":"post","link":"https:\/\/clinicafertia.com\/en\/blog\/down-syndrome-risk-assessment-what-is-evaluated-during-the-12-week-ultrasound","title":{"rendered":"Down Syndrome Risk Assessment: What Is Evaluated During the 12-Week Ultrasound?"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Assessing the <strong>risk of Down syndrome<\/strong> is one of the most important evaluations performed during the first trimester of pregnancy.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It is mainly carried out during the <strong>11\u201312-week ultrasound scan<\/strong>, together with specific blood tests, and estimates the probability that the baby may have certain chromosomal abnormalities.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In this article, we explain what is assessed, how the results are interpreted and what the next steps may be depending on the outcome.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">What is the Down syndrome risk assessment?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The Down syndrome risk assessment forms part of the <strong>combined first-trimester screening<\/strong>, a test that provides an estimate of risk rather than a definitive diagnosis.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This assessment combines:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>11\u201312-week ultrasound scan.<\/li>\n\n\n\n<li>Maternal blood test.<\/li>\n\n\n\n<li>Maternal clinical information (age, weight and medical history).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">The aim is to assess the risk of chromosomal abnormalities such as:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Down syndrome (Trisomy 21).<\/li>\n\n\n\n<li>Edwards syndrome (Trisomy 18).<\/li>\n\n\n\n<li>Patau syndrome (Trisomy 13).<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">What is evaluated during the 12-week ultrasound?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The first-trimester ultrasound does much more than simply confirm the pregnancy.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">During this scan, the following are assessed:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Fetal viability (heartbeat).<\/li>\n\n\n\n<li>Gestational age.<\/li>\n\n\n\n<li>Basic fetal anatomy.<\/li>\n\n\n\n<li>Possible structural abnormalities.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">Key ultrasound markers<\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">Nuchal translucency<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Nuchal translucency (NT)<\/strong> is one of the most important ultrasound markers.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It refers to a small collection of fluid at the back of the baby&#8217;s neck that, when increased, may be associated with:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Chromosomal abnormalities.<\/li>\n\n\n\n<li>Congenital heart defects.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Important<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">An increased nuchal translucency <strong>does not confirm a diagnosis<\/strong>. It is simply an indicator of increased risk.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Other ultrasound markers evaluated<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">In addition to nuchal translucency, the following are assessed:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Nasal bone.<\/li>\n\n\n\n<li>Ductus venosus.<\/li>\n\n\n\n<li>Tricuspid valve.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">The scan also evaluates fetal organs, including:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Skull.<\/li>\n\n\n\n<li>Limbs.<\/li>\n\n\n\n<li>Stomach.<\/li>\n\n\n\n<li>Bladder.<\/li>\n\n\n\n<li>Abdomen.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">What is combined first-trimester screening?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">To improve accuracy, the ultrasound findings are combined with a maternal blood test measuring:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PAPP-A.<\/li>\n\n\n\n<li>Free beta-hCG.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">These results, together with the ultrasound measurements and maternal characteristics, are used to calculate the risk.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This screening can detect up to <strong>85% of chromosomal abnormalities<\/strong> before the 13th week of pregnancy.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">How are the results interpreted?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The result is expressed as a probability.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">For example:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Low risk:<\/strong> values higher than 1 in 270.<\/li>\n\n\n\n<li><strong>High risk:<\/strong> values lower than 1 in 270.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">It is important to understand that:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>It is not a diagnosis.<\/li>\n\n\n\n<li>It cannot confirm or completely rule out a chromosomal condition.<\/li>\n\n\n\n<li>It simply indicates whether further testing is recommended.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">What happens if the risk is high?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">If the screening indicates a high risk, your specialist may recommend:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Non-invasive prenatal testing (NIPT)<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Maternal blood test.<\/li>\n\n\n\n<li>High accuracy.<\/li>\n\n\n\n<li>No risk to the baby.<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">Invasive diagnostic tests (when indicated)<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Amniocentesis.<\/li>\n\n\n\n<li>Chorionic villus sampling (CVS).<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">These tests can confirm the diagnosis.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">How reliable is the Down syndrome risk assessment?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Combined first-trimester screening is a valuable and widely used tool, but it is important to remember that:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>It is a screening test, not a diagnostic test.<\/li>\n\n\n\n<li>False-positive and false-negative results are possible.<\/li>\n\n\n\n<li>Results should always be interpreted by an experienced specialist.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Conclusion<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Down syndrome risk assessment is a key first-trimester screening test that helps identify pregnancies at increased risk of chromosomal abnormalities at an early stage.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A properly performed 12-week ultrasound, combined with the appropriate blood tests, provides valuable information that helps parents and healthcare professionals make informed decisions and, if necessary, proceed with more accurate diagnostic tests.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">If you are pregnant or would like comprehensive prenatal care from the very beginning, <strong>Cl\u00ednica Fertia<\/strong> offers specialist prenatal diagnosis services in M\u00e1laga.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Book your appointment and let our team support you throughout every stage of your pregnancy.<\/strong><\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4>Frequently Asked Questions about the 12-Week Ultrasound<\/h4>\n\n<details class=\"faq-item\">\n  <summary>Can the 12-week ultrasound confirm whether my baby has Down syndrome?<\/summary>\n  <p>No. This examination estimates the level of risk but cannot definitively confirm or rule out Down syndrome. If the result indicates a high risk, additional tests are usually recommended to confirm the diagnosis.<\/p>\n<\/details>\n\n<details class=\"faq-item\">\n  <summary>What is the difference between combined screening and the non-invasive prenatal test (NIPT)?<\/summary>\n  <p>Combined screening estimates the risk using the ultrasound findings, maternal blood test and maternal characteristics. The non-invasive prenatal test (NIPT) analyses fetal DNA circulating in the mother&#8217;s blood and offers greater accuracy, although it is still considered a screening test.<\/p>\n<\/details>\n\n<details class=\"faq-item\">\n  <summary>Do I need to fast before the first-trimester blood test?<\/summary>\n  <p>It depends on your clinic&#8217;s protocol. You should always follow the instructions provided by your healthcare team before the test.<\/p>\n<\/details>\n\n<details class=\"faq-item\">\n  <summary>What happens if one of the ultrasound markers cannot be measured accurately?<\/summary>\n  <p>In some cases, the ultrasound may need to be repeated or complemented with additional tests. Image quality, fetal position and the exact stage of pregnancy can all influence the examination.<\/p>\n<\/details>\n\n<details class=\"faq-item\">\n  <summary>Does the mother&#8217;s age affect the Down syndrome risk calculation?<\/summary>\n  <p>Yes. Maternal age is one of the factors included in the combined first-trimester screening, together with the blood test results and ultrasound findings.<\/p>\n<\/details>\n\n<details class=\"faq-item\">\n  <summary>Can this assessment be performed in any pregnancy, even without previous risk factors?<\/summary>\n  <p>Yes. First-trimester combined screening is recommended for all pregnancies because it helps assess the risk of chromosomal abnormalities even when there are no previous risk factors or symptoms.<\/p>\n<\/details>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u00bfLa ecograf\u00eda de la semana 12 permite saber con seguridad si el beb\u00e9 tiene s\u00edndrome de Down?\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"No. Esta prueba calcula un nivel de riesgo, pero no confirma ni descarta el diagn\u00f3stico de forma definitiva. 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La calidad de la imagen, la posici\u00f3n fetal o la semana exacta del embarazo pueden influir en la exploraci\u00f3n.\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u00bfLa edad de la madre influye en el c\u00e1lculo del riesgo de s\u00edndrome de Down?\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"S\u00ed. La edad materna es uno de los factores que se tienen en cuenta dentro del cribado combinado, junto con la anal\u00edtica y los hallazgos ecogr\u00e1ficos.\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u00bfSe puede hacer esta valoraci\u00f3n en cualquier embarazo?\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"S\u00ed. El cribado del primer trimestre se recomienda de forma general porque ayuda a valorar el riesgo cromos\u00f3mico incluso en embarazos sin antecedentes.\"\n      }\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"<p>Assessing the risk of Down syndrome is one of the most important evaluations performed during the first trimester of pregnancy. It is mainly carried out during the 11\u201312-week ultrasound scan, together with specific blood tests, and estimates the probability that the baby may have certain chromosomal abnormalities. In this article, we explain what is assessed, [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":31528,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[101],"tags":[],"class_list":["post-31527","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cat-pregnancy"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.9 (Yoast SEO v28.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Down Syndrome Risk Assessment - Cl\u00ednica Fertia<\/title>\n<meta name=\"description\" content=\"Learn what is assessed during the 12-week ultrasound, how Down syndrome risk is calculated and how first-trimester screening results are interpreted.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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