{"id":1570,"date":"2020-10-29T13:59:30","date_gmt":"2020-10-29T13:59:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1570"},"modified":"2026-02-23T23:27:09","modified_gmt":"2026-02-23T23:27:09","slug":"prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/29\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\/","title":{"rendered":"Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing (Contributed by Dr. Diana Carli)"},"content":{"rendered":"<p>Beckwith\u2013Wiedemann syndrome (BWSp) is a medical condition characterized by overgrowth, birth defects and increased risk of cancer during childhood. It affects 1 in 10,000 newborns worldwide. During pregnancy the presentation may be non-specific and the diagnosis is usually suspected after birth, complicating the management of pregnancy, delivery and the neonatal period. We studied the prenatal presentation of BWSp in 89 patients, providing a detailed description and estimation of the frequency of the fetal findings and we propose a scoring system for the indication to the molecular testing during pregnancy, with the aim of improving the prenatal diagnosis, the outcome of delivery and neonatal procedures for this rare disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/10\/27\/jmedgenet-2020-107311\">https:\/\/jmg.bmj.com\/content\/early\/2020\/10\/27\/jmedgenet-2020-107311<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/29\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\/125417266_-tucci-for-ever\/\" rel=\"attachment wp-att-1571\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1571\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--300x171.jpg\" alt=\"\" width=\"300\" height=\"171\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--300x171.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--1024x582.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--768x437.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--1536x873.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--2048x1164.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--640x364.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>From left to right: Dr. Alessandro Mussa, Dr. Simona Cardaropoli, Dr. Diana Carli and Prof. Giovanni Battista Ferrero<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Beckwith\u2013Wiedemann syndrome (BWSp) is a medical condition characterized by overgrowth, birth defects and increased risk of cancer during childhood. It affects 1 in 10,000 newborns worldwide. During pregnancy the presentation may be non-specific and the diagnosis is usually suspected after birth, complicating the management of pregnancy, delivery and the neonatal period. We studied the prenatal [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/29\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1570","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing (Contributed by Dr. Diana Carli) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/29\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing (Contributed by Dr. Diana Carli) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Beckwith\u2013Wiedemann syndrome (BWSp) is a medical condition characterized by overgrowth, birth defects and increased risk of cancer during childhood. It affects 1 in 10,000 newborns worldwide. During pregnancy the presentation may be non-specific and the diagnosis is usually suspected after birth, complicating the management of pregnancy, delivery and the neonatal period. We studied the prenatal [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/29\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-10-29T13:59:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:27:09+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/125417266_-TUCCI-FOR-EVER--scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1455\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing (Contributed by Dr. Diana Carli)\",\"datePublished\":\"2020-10-29T13:59:30+00:00\",\"dateModified\":\"2026-02-23T23:27:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/\"},\"wordCount\":147,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/10\\\/125417266_-TUCCI-FOR-EVER--300x171.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/29\\\/prenatal-features-in-beckwith-wiedemann-syndrome-and-indications-for-prenatal-testing\\\/\",\"name\":\"Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing (Contributed by Dr. Diana Carli) - 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