{"id":7091,"date":"2024-04-30T15:13:43","date_gmt":"2024-04-30T15:13:43","guid":{"rendered":"https:\/\/invimed.pl\/?page_id=7091"},"modified":"2026-08-20T12:18:38","modified_gmt":"2026-08-20T12:18:38","slug":"pgt-a","status":"publish","type":"page","link":"https:\/\/invimed.pl\/en\/badania\/genetyczne\/zarodka\/pgt-a","title":{"rendered":"PGT-A \u2013 genetic testing of embryos for aneuploidy\u00a0"},"content":{"rendered":"<p class=\"wp-block-paragraph\">At Invimed, pre-implantation genetic testing to detect aneuploidy in embryos is carried out using the advanced technique of Next-Generation Sequencing (NGS). This technique enables a detailed analysis of the entire embryo genome to detect numerical chromosomal abnormalities (aneuploidy).&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"czym%e2%80%afjest%e2%80%afbadanie%e2%80%afpgt-a%e2%80%af\">What is PGT-A testing?&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-A is a genetic test carried out on embryos prior to transfer during in vitro fertilisation. It enables an assessment of whether an embryo has the correct number of chromosomes (euploidy). This is crucial information during infertility treatment, as aneuploidy \u2013 an abnormal number of chromosomes \u2013 can lead to implantation failure, miscarriages and genetic disorders such as Down\u2019s syndrome, Edwards\u2019 syndrome, Patau\u2019s syndrome or Turner\u2019s syndrome.&nbsp;&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"co-wykrywa-badanie-pgt-a\">What does the PGT-A test detect?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-A testing detects numerical chromosomal abnormalities.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Any abnormalities in chromosome number can cause foetal malformations and lead to genetic disorders, such as Down\u2019s syndrome (an excess of genetic material in the form of an extra, third chromosome 21 or part thereof, known as trisomy 21, or Patau\u2019s syndrome (trisomy 13).&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">PGT-A detects genetic disorders caused by aneuploidy (an abnormal karyotype in terms of chromosome number), such as:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Down's syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Edwards syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Patau syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Klinefelter syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Jacobs syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>band XXX,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Turner syndrome,&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Warkany\u2019s band 2.&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">You can find out more about disorders associated with an abnormal karyotype on the following page:<a href=\"https:\/\/invimed.pl\/en\/karyotype\/\" target=\"_blank\" rel=\"noreferrer noopener\">Karyotype.<\/a>&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"czym-sie-rozni-pgt-a-od-pgt-a\">What is the difference between PGT-A and PGT-A+?&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Both tests share the same objective: to detect abnormalities in chromosome number, i.e. aneuploidy in embryos. <strong>However, the PGT-A+ test offers a more comprehensive genetic analysis than conventional PGT-A. <\/strong>It combines aneuploidy analysis using next-generation sequencing (NGS) with the assessment of single-nucleotide polymorphisms (SNPs), providing more comprehensive information.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>In the PGT-A+ test carried out at Invimed:<\/strong>&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Two methods are used \u2013 NGS and SNP \u2013 which means that the analysis not only allows for the identification of aneuploidy and the assessment of mosaicism in embryos, but also enables the reliable detection of all ploidy abnormalities, such as haploidy and triploidy.&nbsp;&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>We minimise the risk of errors through enhanced checks on sample compliance and the detection of DNA contamination from other sources, such as the mother.&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Through what is known as a \u2018cohort check\u2019, we verify the genetic compatibility between embryos, confirming their kinship and reinforcing the quality control of the test carried out.&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>We use the MitoScore mitochondrial biomarker, which assesses the embryo\u2019s energy potential and helps to select the one with the highest implantation potential, thereby increasing the chances of a successful in vitro treatment.&nbsp;&nbsp;<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"ocena-aneuploidii\">Assessment of aneuploidy&nbsp;&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">The test identifies embryos with a normal number of chromosomes and detects monosomies, trisomies and other chromosomal abnormalities.&nbsp;&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"ocena-ploidalnosci\">Assessment of ploidy&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">The test makes it possible to distinguish between diploidy (a normal set of 46 chromosomes), haploidy (a single set of chromosomes) and triploidy (the presence of three sets of chromosomes). Triploidy is a significant cause of spontaneous miscarriages and may not be detected in a standard PGT-A test.&nbsp;&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"ocena-zanieczyszczen\">Assessment of pollution&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">SNP analysis makes it possible to detect the presence of foreign DNA in trophectoderm biopsy samples. This makes it possible to identify cases of contamination with cells of maternal origin or those arising during laboratory procedures, and to rule out results that may be prone to misinterpretation.&nbsp;&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"cohort-check\">Cohort check&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">It is possible to confirm the genetic compatibility of embryos belonging to the same patient couple. This provides an additional element of quality control and verification of the origin of the genetic material.&nbsp;&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"jak-przebiega-badanie-pgt-a\">How does the PGT-A test work?&nbsp;<\/h2>\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\">Stage 1 Biopsy&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<p class=\"wp-block-paragraph\">Embryo biopsy is usually carried out on day 5 of development, at the blastocyst stage. If, by day 5, the blastocyst is not sufficiently developed \u2013 particularly with regard to the trophectoderm cells \u2013 embryo biopsy may be carried out on day 6 or 7. An experienced embryologist collects several trophectoderm cells from the embryo. The collected material is then preserved and sent for genetic analysis. Embryos that have undergone PGT-A testing are vitrified (frozen).<\/p>\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\">Stage 2: Genetic testing&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-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<p class=\"wp-block-paragraph\">In the genetics laboratory, genetic material (DNA) is isolated from harvested embryo cells and analysed using a sequencer using NGS technology.&nbsp;<\/p>\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\">Stage 3. Embryo assessment&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<p class=\"wp-block-paragraph\">Once the results of the genetic test have been received, the doctor and the embryologist decide which of the genetically normal embryos are suitable for transfer. In appropriate cases, a genetic consultation is recommended.&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<figure class=\"wp-block-table\"><table style=\"border-style:dashed;border-width:3px\"><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\">NGS sequencing, which is used for PGT-A genetic testing, is a state-of-the-art technique that allows rapid analysis of the entire genome of an embryo, thanks to so-called parallel sequencing, which is the reading of the nucleotide sequence of a DNA molecule.&nbsp;<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<section class=\"check-list\">\n\t    <header class=\"check-list__header\">\n        <div class=\"acf-innerblocks-container\">\n\n<h2 class=\"wp-block-heading\" id=\"kiedy-wykonac-badanie-pgt-a\">When should a PGT-A test be carried out?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">It is advisable to undergo PGT-A and PGT-A+ testing when:&nbsp;<\/p>\n\n<\/div>\n    <\/header>\n    <ul class=\"mb-0 p-0 check-list__inner\">\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <div class=\"check-list__item__rte\">\n<p><span data-contrast=\"none\">the patient is over 35 years of age,<\/span><span data-ccp-props=\"{}\">\u00a0<\/span><\/p>\n<\/div>\n            <\/div>\n        <\/li>\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <p>there are recurrent miscarriages or implantation failures,<\/p>\n            <\/div>\n        <\/li>\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <p>the couple have a child with a genetic condition (e.g. Down\u2019s syndrome),<\/p>\n            <\/div>\n        <\/li>\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <p>an abnormal karyotype has been detected in one or both partners,<\/p>\n            <\/div>\n        <\/li>\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <p>the patient has significantly reduced semen analysis results, in particular an abnormal SCD (sperm DNA fragmentation) result,<\/p>\n            <\/div>\n        <\/li>\n            <li class=\"d-flex check-list__item\">\n            <div class=\"svg-container\">\n                <svg width=\"16\" height=\"16\">\n                    <use xlink:href=\"#icon-check-2\" \/>\n                <\/svg>\n            <\/div>\n            <div class=\"check-list__item__rte\">\n                <p>Other indications emerged during the medical interview.<\/p>\n            <\/div>\n        <\/li>\n        <\/ul>\n<\/section>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"gdzie-wykonujemy-badanie-pgt-a\">Where do we carry out PGT-A testing?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The PGT-A test is carried out at every Invimed centre. Invimed works in partnership with Europe\u2019s largest genetic laboratory \u2013 Igenomix. A team of world-renowned scientists has been leading Igenomix for over a dozen years. Igenomix possesses the largest gene libraries, as well as top-of-the-range NGS sequencers.&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 does Embrace differ from PGT-A testing?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">Both tests check whether the embryo\u2019s DNA contains the correct number of chromosomes \u2013 a condition known as euploidy. They differ in the way the genetic material is collected for analysis.\u00a0<br>Embrace is a non-invasive test \u2013 it analyses the genetic material released by the embryo into the culture medium, without the need for a biopsy.\u00a0<br>PGT-A \u2013 involves collecting DNA material directly from the embryo\u2019s trophectoderm using a biopsy pipette.\u00a0PGT-A is a diagnostic test recommended by the Polish Society for Reproductive Medicine and Embryology (PTMRiE) and the European Society of Human Reproduction and Embryology (ESHRE) for patients with specific medical indications.\u00a0<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1785404782549\"><strong class=\"schema-faq-question\">How long does it take to get the results of a PGT-A test?\u00a0<br><\/strong> <p class=\"schema-faq-answer\">The waiting time for the results is usually between 2 and 4 weeks.\u00a0<br><br><\/p> <\/div> <div class=\"schema-faq-section\" id=\"faq-question-1785404797286\"><strong class=\"schema-faq-question\">How does PGT-M differ from PGT-A?<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>\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=\"Dr Marta Bogucka, DVM\" 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>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>W Invimed preimplantacyjne genetyczne badania w kierunku wykrywania aneuploidii w zarodkach wykonywane s\u0105 za pomoc\u0105 zaawansowanej techniki Sekwencjonowania Nowej Generacji (Next Generation Sequencing \u2013 NGS). Pozwala ono na szczeg\u00f3\u0142owy odczyt ca\u0142ego genomu zarodka w kierunku badania nieprawid\u0142owo\u015bci liczbowych chromosom\u00f3w (aneuploidii).&nbsp; Czym\u202fjest\u202fbadanie\u202fPGT-A\u202f&nbsp; PGT\u2011A to badanie genetyczne zarodk\u00f3w wykonywane przed transferem w procedurze in vitro. Pozwala oceni\u0107, [&hellip;]<\/p>\n","protected":false},"author":18,"featured_media":273406,"parent":269650,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-7091","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-A - badanie zarodka w kierunku aneuploidii - Invimed<\/title>\n<meta name=\"description\" content=\"PGT-A (dawniej PGS) wykrywa nieprawid\u0142ow\u0105 liczb\u0119 chromosom\u00f3w zarodka. 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