{"id":3171,"date":"2020-07-16T18:05:05","date_gmt":"2020-07-16T18:05:05","guid":{"rendered":"http:\/\/genetikascentrs.lv\/pakalpojumi\/pgs-pgd-pgt-a-pgt-m\/pirmsimplantacijas-genetiska-diagnostika-pgd-jeb-genetiska-testesana-uz-monogenu-1-gena-mutaciju-izraisitam-saslimsanam-pgt-m\/"},"modified":"2024-03-14T11:42:05","modified_gmt":"2024-03-14T11:42:05","slug":"embryonic-preimplantation-genetic-diagnosis-pgd-or-preimplantation-genetic-testing-for-monogenic-diseases-pgt-m","status":"publish","type":"page","link":"https:\/\/genetikascentrs.lv\/en\/services\/pgs-pgd-pgt-a-pgt-m\/embryonic-preimplantation-genetic-diagnosis-pgd-or-preimplantation-genetic-testing-for-monogenic-diseases-pgt-m\/","title":{"rendered":"Embryonic Preimplantation Genetic Diagnosis (PGD) or Preimplantation Genetic Testing for monogenic diseases (PGT-M)"},"content":{"rendered":"[vc_row rsclass=&#8221;clean&#8221; el_class=&#8221;row&#8221;][vc_column width=&#8221;1\/4&#8243; rsclass=&#8221;clean&#8221; el_class=&#8221;col-md&#8221;][vc_wp_custommenu nav_menu=&#8221;68&#8243; el_class=&#8221;services-nav flex-column flex-nowrap&#8221;][vc_row_inner rsclass=&#8221;clean&#8221; el_class=&#8221;row d-flex flex-column flex-sm-row flex-md-column mt-3&#8243;][vc_column_inner el_class=&#8221;col-auto col-sm col-md-auto&#8221; rsclass=&#8221;clean&#8221; rsinner=&#8221;contact-box contact-box-1&#8243;][vc_custom_heading text=&#8221;Working Time&#8221; font_container=&#8221;tag:h5|text_align:left&#8221; use_theme_fonts=&#8221;yes&#8221; rs_decor_place=&#8221;2&#8243; el_class=&#8221;contact-box-title&#8221;][\/vc_custom_heading][vc_column_text rsclass=&#8221;clean&#8221;]\n<ul class=\"icn-list\">\n<li><svg class=\"icon icon-clock\" version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"32\" height=\"32\" viewBox=\"0 0 32 32\"><title>clock<\/title><path d=\"M20.655 15.582h-4.232v-4.232c0-0.701-0.569-1.27-1.27-1.27s-1.27 0.569-1.27 1.27v5.502c0 0.701 0.569 1.27 1.27 1.27h5.502c0.701 0 1.27-0.569 1.27-1.27s-0.569-1.27-1.27-1.27z\"><\/path><path d=\"M16 1.5c-7.995 0-14.5 6.505-14.5 14.5s6.505 14.5 14.5 14.5 14.5-6.505 14.5-14.5c0-7.995-6.505-14.5-14.5-14.5zM16 27.96c-6.595 0-11.96-5.365-11.96-11.96s5.365-11.96 11.96-11.96 11.96 5.365 11.96 11.96c0 6.595-5.365 11.96-11.96 11.96z\"><\/path><\/svg>Mon-Thu <b>08:00 &#8211; 20:00<\/b><br class=\"tt\" \/>Friday <b>07:00 &#8211; 22:00<\/b><br class=\"tt\" \/>Saturday <b>08:00 &#8211; 18:00<\/b><\/li>\n<\/ul>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner el_class=&#8221;col-auto col-sm col-md-auto&#8221; rsclass=&#8221;clean&#8221; rsinner=&#8221;contact-box contact-box-2&#8243;][vc_custom_heading text=&#8221;Contact Info&#8221; font_container=&#8221;tag:h5|text_align:left&#8221; use_theme_fonts=&#8221;yes&#8221; rs_decor_place=&#8221;2&#8243; el_class=&#8221;contact-box-title&#8221;][\/vc_custom_heading][vc_column_text rsclass=&#8221;clean&#8221;]\n<ul class=\"icn-list\">\n<li class=\" p-l-0\">\n<div class=\"tt\"><svg class=\"icon icon-clock\" version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"32\" height=\"32\" viewBox=\"0 0 32 32\"><title>clock<\/title><path d=\"M20.655 15.582h-4.232v-4.232c0-0.701-0.569-1.27-1.27-1.27s-1.27 0.569-1.27 1.27v5.502c0 0.701 0.569 1.27 1.27 1.27h5.502c0.701 0 1.27-0.569 1.27-1.27s-0.569-1.27-1.27-1.27z\"><\/path><path d=\"M16 1.5c-7.995 0-14.5 6.505-14.5 14.5s6.505 14.5 14.5 14.5 14.5-6.505 14.5-14.5c0-7.995-6.505-14.5-14.5-14.5zM16 27.96c-6.595 0-11.96-5.365-11.96-11.96s5.365-11.96 11.96-11.96 11.96 5.365 11.96 11.96c0 6.595-5.365 11.96-11.96 11.96z\"><\/path><\/svg><span class=\"tt\">Phone: <\/span><span class=\"tt\"><b>1-800-267-0000<\/b> <b class=\"p-l-86\">1-800-267-0001<\/b><\/span><\/div>\n<\/li>\n<li class=\" p-l-0\">\n<div class=\"tt\"><svg class=\"icon icon-black-envelope\" version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"32\" height=\"32\" viewBox=\"0 0 32 32\"><title>black-envelope<\/title><path d=\"M2.531 6.124l11.526 9.13c0.523 0.414 1.243 0.597 1.942 0.563 0.698 0.034 1.419-0.148 1.941-0.563l11.526-9.13c0.924-0.727 0.715-1.323-0.457-1.323h-26.019c-1.173 0-1.382 0.596-0.461 1.323z\"><\/path><path d=\"M30.3 8.533l-12.596 9.563c-0.471 0.354-1.088 0.526-1.702 0.518-0.616 0.008-1.233-0.165-1.704-0.518l-12.598-9.563c-0.935-0.709-1.7-0.329-1.7 0.844v15.69c0 1.173 0.96 2.133 2.133 2.133h27.734c1.173 0 2.133-0.96 2.133-2.133v-15.69c0-1.173-0.765-1.553-1.7-0.844z\"><\/path><\/svg><a href=\"mailto:info@dentco.net\">info@dentco.net<\/a><\/div>\n<\/li>\n<\/ul>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner rsclass=&#8221;clean&#8221;][vc_column_inner el_class=&#8221;question-box mt-3&#8243; 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rsclass=&#8221;clean&#8221; el_class=&#8221;col-md-8 col-lg-9 mt-md-0&#8243;][vc_row_inner rsclass=&#8221;clean&#8221; el_class=&#8221;pt-md-4&#8243;][vc_column_inner rsclass=&#8221;clean&#8221;][vc_column_text rsclass=&#8221;clean&#8221;]\n<h4><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-2597\" src=\"http:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/pirmsimplant_diagn.jpg\" alt=\"\" width=\"450\" height=\"324\" srcset=\"https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/pirmsimplant_diagn.jpg 590w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/pirmsimplant_diagn-300x216.jpg 300w\" sizes=\"auto, (max-width: 450px) 100vw, 450px\" \/><\/h4>\n<p><b>The number of IVF cycles after PGT-M<\/b>\u00a0(Preimplantation genetic testing for monogenic\/single gene diseases):\u00a0<b>36*<\/b><\/p>\n<p><b>*<\/b>for the families after genetic examination, in which the hereditary genetic disorder is molecularly confirmed.<\/p>\n<div><b>Currently iVF Riga Clinic has embryos tested for the following genetic abnormalities:<\/b><\/div>\n<ul>\n<li>Huntington\u2019s chorea<\/li>\n<li>Thoracic Aortic Dissections<\/li>\n<li>Ichthyosis \u2013 mutations in the ALOX12B gene<\/li>\n<li>Neuronal ceroid lipofuscinosis<\/li>\n<li>GM1-Gangliosidosis<\/li>\n<li>Myotubular myopathy<\/li>\n<li>Duchenne and Becker muscular dystrophy<\/li>\n<li>Hemophilia B<\/li>\n<li>Osteogenesis imperfecta<\/li>\n<li>Charcot-Marie-Tooth disease<\/li>\n<li>Bilateral frontoparietal polymicrogyria<\/li>\n<li>Autosomal dominant polycystic kidney disease<\/li>\n<li>Cystic fibrosis<\/li>\n<li>PRKAG2 cardiomyopathy<\/li>\n<li>Microphthalmia<\/li>\n<li>Prolidase deficiency<\/li>\n<li>Autosomal recessive nonsyndromic hearing loss<\/li>\n<\/ul>\n<p>For families in which <strong>monogenic hereditary diseases<\/strong> (which occur due to changes in a single gene) are passed down from generation to generation or a similar disorder has already been detected in one of the children, the question about the possibility to diagnose the disease as early as possible is of high importance. Up until now, such diagnosis could only be made during pregnancy, however, oftentimes it lead to a difficult decision of pregnancy termination in cases where the diagnosis of the child\u2019s disease was confirmed.<\/p>\n<p>Since 2015, the Genetic centre iVF Riga offers its patients an opportunity to analyze embryonic cells in order to determine which of the embryos did not inherit the mutation (or mutations) of the gene, thus allowing to continue the pregnancy, knowing that the further spread of the disease in the family has been stopped. In order to carry out the given analysis, <strong>(PGD &#8211; preimplantation genetic diagnosis, or PGT-M, testing for monogenic diseases)<\/strong> the hereditary genetic disorder has to be molecularly confirmed. The unique preimplantation genetic diagnosis (PGD) or preimplantation genetic testing for monogenic diseases (PGT-M) allows to select viable embryos at an embryonic level, thus ensuring the birth of healthy baby.<\/p>\n<h6>Important to know: even if the patients or their children have been diagnosed with a genetic disorder, it does not mean that a healthy child cannot be born in this family!<\/h6>\n<p>The Genetic centre iVF Riga is currently the only one in the Baltic countries offering embryonic Preimplantation Genetic Testing \u2013 PGS and PGD (or, according to the new terminology, PGT-A and PGT-M). These methods make it possible to choose the best and most viable genetically competent embryos, thus effectively increasing the likelihood of implantation, clinical pregnancy and successful already after the first cycle of PGS\/PGD (PGT-A\/PGT-M).<\/p>\n<p>There are many diseases for which PGD (PGT-M) is recommended. Although it might seem that these diseases occur rarely, in general, they affect a significant part of the population. Most common genetic disorders are:<\/p>\n<h6>Dominantly transmitted disorders \u2014 can be passed down from generation to generation<\/h6>\n<ul>\n<li>Huntington\u2019s chorea \u2014 progressive neurodegenerative brain disease; at the initial stage characterized by uncontrollable disorderly movements (chorea).<\/li>\n<li>Achondroplasia (dwarfism) \u2014 genetic disorder caused by mutations in the FGFR3 gene, which leads to uneven growth of the skeleton.<\/li>\n<li>Charcot\u2013Marie\u2013Tooth neuropathy \u2014 hereditary sensory-motor nerve disorder characterized by muscle weakness and muscle atrophy of the distal extremities.<\/li>\n<\/ul>\n<h6>Recessively transmitted disorders \u2014 often occurs in brothers and sisters<\/h6>\n<ul>\n<li>Cystic fibrosis \u2014 genetic disease, based on the mutation in the CFTR gene and characterized by lesions of exocrine glands, severe complications of the respiratory and gastrointestinal tract.<\/li>\n<li>Phenylketonuria \u2014 inherited inability to metabolize amino acid phenylalanine; causes brain and nerve damage if left untreated.<\/li>\n<li>Spinal muscular atrophy \u2014 genetic disease characterized by dysfunction of the spinal cord nerve cells, muscle weakness and atrophy, leading to immobilization.<\/li>\n<\/ul>\n<h6>X-linked (connected with the X chromosome) transmitted disorders \u2014 most often occur in males<\/h6>\n<ul>\n<li>Fragile X chromosome syndrome \u2014 hereditary disease caused by mutations in the FMR1 gene, characterized by premature ovarian failure or exhaustion, accompanied by mental retardation.<\/li>\n<li>Myotubular myopathy \u2014 congenital myopathy with severe weakness of the facial muscles, disorders of swallowing and respiratory functions.<\/li>\n<li>Hemophilia \u2014 bleeding disorder that slows down the blood clotting process.<\/li>\n<li>Duchenne and Becker muscular dystrophy \u2014 genetic disorders, that affect the structure of the muscle fibers, thus causing severe muscle weakness and loss of ambulation. These disorders can also lead to skeletal deformities, heart and respiratory failure, endocrine and mental disorders.<\/li>\n<\/ul>\n[\/vc_column_text][vc_column_text]\n<h4>PGD\/PGT-M &#8211; step by step<\/h4>\n<ol>\n<li>Geneticist consultation and medical history review (the hereditary genetic disorder has to be molecularly confirmed)<\/li>\n<li>Personalized PGD\/PGT-M test for this case design &amp; preparation<\/li>\n<li>IVF\/ICSI manipulation<\/li>\n<li>Cultivation of the received embryos up to day 5<\/li>\n<li>Embryo biopsy \u2013 several trophectoderm cell collection without harming the embryo<\/li>\n<li>Embryo freezing (vitrification) for later use<\/li>\n<li>PGD\/PGT-M &#8211; preimplantation genetic diagnosis, the examination of certain monogenic disease<\/li>\n<li>PGS\/PGT-A for transferable embryos<\/li>\n<li>Embryo transfer<\/li>\n<li>Postnatal confirmation of baby\u2019s genotype<img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-2602 size-full\" src=\"http:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim.jpg\" alt=\"\" width=\"1200\" height=\"1500\" srcset=\"https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim.jpg 1200w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim-240x300.jpg 240w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim-819x1024.jpg 819w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim-768x960.jpg 768w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim-300x375.jpg 300w, https:\/\/genetikascentrs.lv\/wp-content\/uploads\/2020\/07\/PGD_soli_pa_solim-600x750.jpg 600w\" sizes=\"auto, (max-width: 1200px) 100vw, 1200px\" \/><\/li>\n<\/ol>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row][vc_row][vc_column][\/vc_column][\/vc_row]\n","protected":false},"excerpt":{"rendered":"<p>[vc_row rsclass=&#8221;clean&#8221; 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