{"id":64758,"date":"2024-05-05T22:20:26","date_gmt":"2024-05-05T22:20:26","guid":{"rendered":"http:\/\/invimed.pl\/?page_id=64758"},"modified":"2026-09-24T14:12:45","modified_gmt":"2026-09-24T14:12:45","slug":"pgt-m","status":"publish","type":"page","link":"https:\/\/invimed.pl\/en\/badania\/genetyczne\/zarodka\/pgt-m","title":{"rendered":"PGT-M \u2013 genetic testing of embryos for single-gene disorders\u00a0"},"content":{"rendered":"<p class=\"is-style-default wp-block-paragraph\" style=\"padding-top:0;padding-right:0;padding-bottom:0;padding-left:0\">PGT-M (formerly PGD) is a method that makes it possible to rule out the risk of passing on serious genetic conditions to offspring.<\/p>\n\n\n\n<p class=\"is-style-default wp-block-paragraph\" style=\"padding-top:0;padding-right:0;padding-bottom:0;padding-left:0\">Thanks to PGT-M, which is offered by Invimed, it is possible to examine the embryo\u2019s DNA in detail and rule out or identify monogenic disorders such as cystic fibrosis, X-linked fragility syndrome or thalassaemia.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"czym-jest-badanie-pgt-m\">What is PGT-M testing?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-M (Pre-implantation Genetic Testing for Monogenic Disorders) is a genetic test carried out on embryos prior to transfer as part of an in vitro fertilisation procedure. Its aim is to check whether the embryo has inherited a genetic mutation that could lead to the development of a specific condition, either one that runs in the family or one detected in the prospective parents during carrier screening.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Based on medical records, genetic test results and a case study, the specific condition for which the analysis will be carried out is determined. This makes it possible to reduce the risk of passing on a specific genetic condition to one\u2019s offspring.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"jakie-choroby-wykrywa-pgt%e2%80%91m\">What conditions does PGT-M detect?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-M is used to detect monogenic (single-gene) disorders, i.e. those caused by a change in a single gene. The test does not screen for all possible genetic disorders, but is targeted at a specific mutation previously identified in the family.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-M can be used, amongst other things, in the diagnosis of conditions such as:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>cystic fibrosis,<\/li>\n\n\n\n<li>Huntington's disease,<\/li>\n\n\n\n<li>phenylketonuria,<\/li>\n\n\n\n<li>haemophilia<\/li>\n\n\n\n<li>and many other monogenic disorders.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">This test is particularly recommended when one or both partners have been found to carry a genetic mutation, there is a history of a hereditary condition in the family, or previous genetic testing has indicated an increased risk of passing on a specific condition to a child.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"czym-rozni-sie-pgt-a-od-pgt-m\">How does PGT-A differ from PGT-M?&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">These tests share a single objective: to rule out the presence of genetic abnormalities. The difference between PGT-A and PGT-M lies in the type of genetic abnormalities detected by each test. In the first test, we look for abnormalities in chromosome number \u2013 known as aneuploidy \u2013 which cause conditions such as Down\u2019s syndrome, Edwards\u2019 syndrome and Patau\u2019s syndrome. In the second test (PGT-M), we screen the embryo for specific genetic disorders such as cystic fibrosis, phenylketonuria and Huntington\u2019s disease.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dlaczego-warto-wykonac-pgt-m\">Why is it worth having PGT-M carried out?&nbsp;<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Each test is tailored individually to each couple to best suit their genetic situation and needs.\u00a0<\/li>\n\n\n\n<li>It helps to select embryos that do not carry a genetic condition known to run in the family, before they are transferred to the womb.\u00a0<\/li>\n\n\n\n<li>If an Adventia-type test (link) confirms that you are a carrier of a genetic condition, it can help prevent the condition from being passed on to your child.&nbsp;<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"wskazania-do-pgt-m\">Indications for PGT-M&nbsp;<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>The presence of specific monogenic disorders in one or both parents, or possibly amongst the partners\u2019 family members,&nbsp;<\/li>\n\n\n\n<li>the birth of a child with a single-gene genetic disorder,&nbsp;<\/li>\n\n\n\n<li>carriage of single-gene genetic disorders, confirmed by testing for couples planning a pregnancy (e.g. Adventia).&nbsp;<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"jak-przebiega-badanie-pgt-m\">How does the PGT-M study work?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">In its early stages, PGT-M embryo testing is carried out in the same way as<a href=\"https:\/\/invimed.pl\/en\/research\/genetic\/embryo\/pgt-a\/\">\u202fPGT-A<\/a>\u202fThe embryo is cultured to the blastocyst stage, and a sample of the trophectoderm is collected via biopsy for analysis.\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The difference lies in genetic testing, during which a specific mutation in a gene is sought. It should be noted that, before the entire in vitro procedure begins, a case study is usually carried out, involving the submission of genetic material from the prospective parents \u2013 and often the grandparents as well \u2013 for genetic analysis, in order to determine the appropriate test to identify the mutation in question.\u00a0<\/p>\n\n\n\n<div data-wp-context=\"{ &quot;autoclose&quot;: false, &quot;accordionItems&quot;: [] }\" data-wp-interactive=\"core\/accordion\" role=\"group\" class=\"wp-block-accordion is-layout-flow wp-block-accordion-is-layout-flow\">\n<div data-wp-class--is-open=\"state.isOpen\" data-wp-context=\"{ &quot;id&quot;: &quot;accordion-item-1&quot;, &quot;openByDefault&quot;: false }\" data-wp-init=\"callbacks.initAccordionItems\" data-wp-on-window--hashchange=\"callbacks.hashChange\" class=\"wp-block-accordion-item is-layout-flow wp-block-accordion-item-is-layout-flow\">\n<h3 class=\"wp-block-accordion-heading\"><button aria-expanded=\"false\" aria-controls=\"accordion-item-1-panel\" data-wp-bind--aria-expanded=\"state.isOpen\" data-wp-on--click=\"actions.toggle\" id=\"accordion-item-1\" type=\"button\" class=\"wp-block-accordion-heading__toggle\"><span class=\"wp-block-accordion-heading__toggle-title\">Preparation and case study&nbsp;<\/span><span class=\"wp-block-accordion-heading__toggle-icon\" aria-hidden=\"true\">+<\/span><\/button><\/h3>\n\n\n\n<div aria-labelledby=\"accordion-item-1\" data-wp-bind--hidden=\"state.isHidden\" data-wp-on--beforematch=\"actions.handleBeforeMatch\" id=\"accordion-item-1-panel\" role=\"region\" class=\"wp-block-accordion-panel is-layout-flow wp-block-accordion-panel-is-layout-flow\">\n<ul class=\"wp-block-list\">\n<li>the patient receives a referral to a geneticist from the attending physician,&nbsp;<\/li>\n\n\n\n<li>A geneticist reviews the medical history of patients and their families,&nbsp;<\/li>\n\n\n\n<li>Before undergoing PGT-M testing, a so-called case study is required: preparation (collecting blood samples from relatives for testing and documenting the family medical history) and preliminary testing (genetic testing of samples taken from the parents and relatives),&nbsp;<\/li>\n\n\n\n<li>results of the case study from Igenomix (a molecular genetics laboratory in Spain) \u2013 are available to patients after approximately 6 weeks,&nbsp;<\/li>\n\n\n\n<li>The attending doctor informs patients about their eligibility and preparation for IVF treatment (based on the results of the Igenomix case study)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div data-wp-context=\"{ &quot;autoclose&quot;: false, &quot;accordionItems&quot;: [] }\" data-wp-interactive=\"core\/accordion\" role=\"group\" class=\"wp-block-accordion is-layout-flow wp-block-accordion-is-layout-flow\">\n<div data-wp-class--is-open=\"state.isOpen\" data-wp-context=\"{ &quot;id&quot;: &quot;accordion-item-2&quot;, &quot;openByDefault&quot;: false }\" data-wp-init=\"callbacks.initAccordionItems\" data-wp-on-window--hashchange=\"callbacks.hashChange\" class=\"wp-block-accordion-item is-layout-flow wp-block-accordion-item-is-layout-flow\">\n<h3 class=\"wp-block-accordion-heading\"><button aria-expanded=\"false\" aria-controls=\"accordion-item-2-panel\" data-wp-bind--aria-expanded=\"state.isOpen\" data-wp-on--click=\"actions.toggle\" id=\"accordion-item-2\" type=\"button\" class=\"wp-block-accordion-heading__toggle\"><span class=\"wp-block-accordion-heading__toggle-title\">In vitro procedure with biopsy<\/span><span class=\"wp-block-accordion-heading__toggle-icon\" aria-hidden=\"true\">+<\/span><\/button><\/h3>\n\n\n\n<div aria-labelledby=\"accordion-item-2\" data-wp-bind--hidden=\"state.isHidden\" data-wp-on--beforematch=\"actions.handleBeforeMatch\" id=\"accordion-item-2-panel\" role=\"region\" class=\"wp-block-accordion-panel is-layout-flow wp-block-accordion-panel-is-layout-flow\">\n<ul class=\"wp-block-list\">\n<li>performing IVF, ICSI or IMSI,&nbsp;<\/li>\n\n\n\n<li>An embryo biopsy is then carried out (an experienced embryologist removes a sample of the blastocyst\u2019s trophectoderm) \u2013 this takes place on the 5th or 6th day of development, or in exceptional cases on the 7th day.&nbsp;<\/li>\n\n\n\n<li>this is followed by the preservation and preparation of the embryo fragment for transport; at the same time, the blastocyst is vitrified and held in the reproductive cell and embryo bank pending transfer,&nbsp;<\/li>\n\n\n\n<li>The sample is transported by air to the Igenomix laboratory (Valencia, Spain)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div data-wp-context=\"{ &quot;autoclose&quot;: false, &quot;accordionItems&quot;: [] }\" data-wp-interactive=\"core\/accordion\" role=\"group\" class=\"wp-block-accordion is-layout-flow wp-block-accordion-is-layout-flow\">\n<div data-wp-class--is-open=\"state.isOpen\" data-wp-context=\"{ &quot;id&quot;: &quot;accordion-item-3&quot;, &quot;openByDefault&quot;: false }\" data-wp-init=\"callbacks.initAccordionItems\" data-wp-on-window--hashchange=\"callbacks.hashChange\" class=\"wp-block-accordion-item is-layout-flow wp-block-accordion-item-is-layout-flow\">\n<h3 class=\"wp-block-accordion-heading\"><button aria-expanded=\"false\" aria-controls=\"accordion-item-3-panel\" data-wp-bind--aria-expanded=\"state.isOpen\" data-wp-on--click=\"actions.toggle\" id=\"accordion-item-3\" type=\"button\" class=\"wp-block-accordion-heading__toggle\"><span class=\"wp-block-accordion-heading__toggle-title\">Analysis and transfer&nbsp;<\/span><span class=\"wp-block-accordion-heading__toggle-icon\" aria-hidden=\"true\">+<\/span><\/button><\/h3>\n\n\n\n<div aria-labelledby=\"accordion-item-3\" data-wp-bind--hidden=\"state.isHidden\" data-wp-on--beforematch=\"actions.handleBeforeMatch\" id=\"accordion-item-3-panel\" role=\"region\" class=\"wp-block-accordion-panel is-layout-flow wp-block-accordion-panel-is-layout-flow\">\n<ul class=\"wp-block-list\">\n<li>Igenomix, PGT-M \u2013 carries out genetic analysis,&nbsp;<\/li>\n\n\n\n<li>genetic report (available in approx. 2\u20133 weeks),&nbsp;<\/li>\n\n\n\n<li>transfer of healthy embryos<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"ile-trwa-oczekiwanie-na-wynik\">How long does it take to get the result?&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The waiting time for PGT-M results depends on the type of condition being tested for and the scope of the test. The diagnostic process itself, following an embryo biopsy, usually takes up to 6 weeks.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">It is worth bearing in mind that, before the test begins, a case study must be carried out, during which the couple\u2019s medical and genetic records are analysed and the scope of the diagnostic tests is determined. It is therefore advisable to start preparing for the PGT-M test well in advance of the planned in vitro procedure.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"dlaczego-pgt-m-w-invimed\">Why PGT-M at Invimed&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Why is the pre-implantation genetic PGT test performed at Invimed incomparable to other centres in the country offering this test?&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">At Invimed centres, we draw on many years\u2019 experience in carrying out pre-implantation genetic testing. We have been performing PGT-M tests since 2005 \u2013 that is, for over 20 years. In addition, at Invimed we carry out a comprehensive assessment of the embryo\u2019s genetic status. If no monogenic disorder is detected in the PGT-M test, we also carry out a PGT-A test to assess the correct number of chromosomes.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Invimed works with<a href=\"https:\/\/www.igenomix.com\/\" target=\"_blank\" rel=\"noreferrer noopener\">Igenomix<\/a>, a molecular genetics laboratory established in 1996 at the University of Valencia in Spain by a group of scientists. The group has extensive experience in conducting genetic research into human infertility. It is not only a laboratory providing diagnostic services, but also a research centre (Igenomix Research) and a foundation (Igenomix Foundation), whose aim is to translate scientific knowledge into reproductive medicine based on proven genetic expertise.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"najczesciej-zadawane-pytania\">Frequently asked questions<\/h2>\n\n\n\n<div class=\"schema-faq wp-block-yoast-faq-block\"><div class=\"schema-faq-section\" id=\"faq-question-1785404723310\"><strong class=\"schema-faq-question\">How long does it take to prepare for a PGT-M test?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">The time required to prepare for a PGT-M test varies from case to case and depends on the type of condition being screened for. It usually takes up to 6 weeks to prepare the case study and validate the method, so it is advisable to start this process well in advance of the planned in vitro procedure.\u00a0<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1785404782549\"><strong class=\"schema-faq-question\">What is a case study in PGT-M?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">A case study in PGT-M involves taking blood samples from the prospective parents, grandparents and, where applicable, other relatives; compiling a family history of the genetic condition; and carrying out a preliminary analysis of the genetic material collected from the parents and relatives. Based on the data collected in this way, the laboratory confirms whether PGT-M testing can be carried out to assess the risk of a specific monogenic disorder.\u00a0\u00a0<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1785404797286\"><strong class=\"schema-faq-question\">Is a sample from a relative required for the test?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">Yes. In the case of PGT-M, a sample of genetic material must be collected from the prospective parents or grandparents.<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1786445282193\"><strong class=\"schema-faq-question\">How does PGT-M differ from PGT-A?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">These are two types of genetic testing of embryos, but each serves a different purpose.\u00a0<br>The PGT-A test checks whether the embryo has the correct number of chromosomes.\u00a0<br>PGT-M is used to detect a specific genetic disorder associated with a mutation in a particular gene.\u00a0<br>In practice, this means that PGT-A determines whether the embryo\u2019s chromosomal material is normal, whilst PGT-M determines whether the embryo has inherited a specific genetic disorder.\u00a0<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1786445297537\"><strong class=\"schema-faq-question\">Does PGT-M detect all genetic disorders?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">No. PGT-M is a test targeted at a specific condition or genetic mutation previously identified in the family. It is not a screening test for all possible genetic conditions.\u00a0<br><br><\/p> <\/div> <\/div>\n\n\n\n<div style=\"height:40px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\">Bibliography<\/h4>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Good practice recommendations from the European Society of Human Reproduction and Embryology for pre-implantation genetic testing (PGT)<\/li>\n\n\n\n<li>R. Kurzawa, R. Spaczy\u0144ski, \u201eDiagnosis and treatment of infertility. Standards of the Polish Society for Reproductive Medicine and Embryology and the Polish Society of Gynaecologists and Obstetricians.\u201d<\/li>\n<\/ol>\n\n\n\n<div style=\"border:1px solid #e0ddd8;border-radius:4px;background:#ffffff;padding:20px 24px;margin-top:24px;font-family:inherit;color:#3d3d3d\">\n\n  <!-- AUTHOR LABEL -->\n  <p style=\"font-family:inherit;font-size:10px;font-weight:700;letter-spacing:0.13em;text-transform:uppercase;color:#334c78;margin:0 0 12px 0\">\n    Substantive consultation\n  <\/p>\n\n  <!-- AUTHOR ROW -->\n  <div style=\"display:flex;align-items:center;gap:18px;background:#f7f5f2;border-radius:3px;padding:14px 16px\">\n\n    <figure><img decoding=\"async\" src=\"\/wp-content\/uploads\/2024\/04\/marta-bogucka-invimed148.jpg&quot;\" alt=\"Marta Bogucka\" width=\"300\" style=\"display:block;width:300px;height:auto\"><\/figure><div style=\"flex-shrink:0\">\n\n    <\/div>\n\n    <div style=\"width:1px;align-self:stretch;background:#e0ddd8;flex-shrink:0\"><\/div>\n\n    <div>\n      <p style=\"font-size:12.5px;line-height:1.65;color:#4a4540;margin:0 0 8px 0;font-family:inherit\">\n      <a href=\"https:\/\/invimed.pl\/en\/doctors\/marta-bogucka\/\">Dr Marta Bogucka, DVM<\/a> \u2013 Head of the Invimed Warsaw embryology laboratory; she has specialised in clinical embryology for over 20 years. As a subject matter consultant, she ensures that published content is in line with current medical knowledge and standards of infertility treatment.\n      <\/p>\n  \n    <\/div>\n\n  <\/div>\n\n<\/div>","protected":false},"excerpt":{"rendered":"<p>PGT-M (dawniej PGD) to metoda pozwalaj\u0105ca na wykluczenie ryzyka przeniesienia gro\u017anych chor\u00f3b genetycznych na potomstwo. Dzi\u0119ki PGT-M, kt\u00f3re jest oferowane w Invimed, mo\u017cna szczeg\u00f3\u0142owo zbada\u0107 DNA zarodka i wykluczy\u0107 lub stwierdzi\u0107 choroby monogenowe takie jak np. mukowiscydoza, zesp\u00f3\u0142 \u0142amliwego chromosomu X, czy talasemia. Czym jest badanie PGT-M PGT\u2011M (Preimplantation Genetic Testing for Monogenic Disorders) to [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":256699,"parent":269650,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-64758","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>PGT-M (PGD) - badanie zarodka w kierunku chor\u00f3b genetycznych<\/title>\n<meta name=\"description\" content=\"PGT-M (dawniej PGD) wykrywa w zarodku mutacj\u0119 odpowiedzialn\u0105 za konkretn\u0105 chorob\u0119 jednogenow\u0105 w rodzinie. 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Find out about the indications and the procedure.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"og_locale":"en_GB","og_type":"article","og_title":"PGT-M (PGD) - badanie zarodka w kierunku chor\u00f3b genetycznych","og_description":"PGT-M (dawniej PGD) wykrywa w zarodku mutacj\u0119 odpowiedzialn\u0105 za konkretn\u0105 chorob\u0119 jednogenow\u0105 w rodzinie. 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