{"id":1174,"date":"2025-06-19T17:23:18","date_gmt":"2025-06-19T13:23:18","guid":{"rendered":"https:\/\/reproart.wpenginepowered.com\/?post_type=services&p=1174"},"modified":"2026-03-31T12:06:56","modified_gmt":"2026-03-31T08:06:56","slug":"preimplantation-genetic-testing-for-monogenic-diseases-pgt-m","status":"publish","type":"services","link":"https:\/\/reproartclinic.com\/en\/services\/preimplantation-genetic-testing-for-monogenic-diseases-pgt-m\/","title":{"rendered":"Preimplantation Genetic Testing for Monogenic Diseases (PGT-M)"},"content":{"rendered":"\t\t
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What is PGT-M?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) is a laboratory technique used to detect\u00a0single-gene mutations<\/strong>\u00a0in embryos before they are transferred into the uterus. This helps couples who carry or are affected by inherited conditions reduce the risk of passing them on to their child.<\/p>

PGT-M is distinct from PGT-A (which checks chromosome count). Instead, it focuses on specific mutations \u2014 such as those that cause cystic fibrosis, thalassemia, or Duchenne muscular dystrophy.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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When is PGT-M Recommended?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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When a couple is aware of close or distant relatives monogenic diseases, that is, disorders caused by single gene modification they may be at risk of having a child affected by the genetic disorder. As a couple, you may be aware of relatives affected by a genetic disease or you may find out from carrier screening (via blood tests) performed here or elsewhere. Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) is used to reduce the risk of transmitting such diseases.<\/p>

PGT-M may be advised in cases where one or both partners \u2014 or their family members \u2014 are affected by or are carriers of inherited single-gene disorders. These include:<\/strong><\/p>

  • Autosomal recessive conditions<\/strong>, such as cystic fibrosis or beta-thalassemia (if both partners are carriers)<\/li>
  • Autosomal dominant conditions<\/strong>, such as Huntington\u2019s disease (if one partner is affected)<\/li>
  • X-linked disorders<\/strong>, such as Duchenne muscular dystrophy (if the mother is a carrier)<\/li>
  • Inherited cancer syndromes<\/strong>, such as BRCA1 or BRCA2 mutations<\/li>
  • Previous child or pregnancy affected by a monogenic disorder<\/strong><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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    How is PGT-M Performed at Reproart?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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    PGT-M is done as part of an IVF cycle. At Reproart, embryo development takes place in our laboratory until the blastocyst stage (Day 5 or 6). A few cells from the trophectoderm (which later becomes the placenta) are biopsied for testing.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t

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    1. Family-Specific Genetic Design<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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    In any case of a known genetic condition, a full genetic workup is required for both partners to determine if there is a risk of a child affected by the genetic condition.\u00a0 This process involves collecting DNA samples from both partners and, if necessary, their family members. If there is a risk, a genetic testing approach is tailored specifically to that family\u2019s genetic profile.\u00a0 It is designed to detect if the condition is present in an embryo as a condition or simply as a carrier of the condition.\u00a0 If a family has a rare or not yet genetically mapped condition, a custom diagnostic kit must be created. It is generally best to wait until the testing approach has been developed prior to beginning an IVF cycle to create embryos for testing.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    2. Embryo Biopsy<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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    When a patient receives In-Vitro Fertilization (IVF) at Reproart, the embryo\u2019s development up to a certain stage proceeds outside the body, in the IVF Laboratory. That is when the embryo\u2019s biopsy is performed.<\/p>

    On the third day of the embryo\u2019s development, assisted laser hatching is performed to make a small hole in the zona pellucida, the glycoprotein coat that surrounds the embryo. Excellent embryos typically escape from this zona pellucida a few days later. The creation of this small hole doesn\u2019t harm the embryo.\u00a0 It only allows the embryo to escape sooner.<\/p>

    On day five or six, when the embryo reaches the blastocyst stage, trophectoderm biopsy is performed, removing a few cells that extend through the hole in the zona pellucida. The trophectoderm is a part of the blastocyst, that subsequently becomes placenta. The chromosomes in these cells of the trophectoderm are believed to be representative of the chromosomes throughout the entire embryo.\u00a0 Removal of a few cells from the trophectoderm does not harm the inner cell mass cells that will become the fetus (baby).\u00a0

    Subsequently, the biopsied cells are sent for genetic testing.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    3. Cryopreservation<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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    Embryos are immediately frozen (vitrified) after biopsy, until the genetic analysis is completed<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    4. Genetic Testing<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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    Biopsied cells are sent to our partner laboratories in the UK or USA. These labs perform advanced genetic fingerprinting to determine which embryos are affected, carriers, or unaffected by the specific condition being tested.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    5. Embryo Selection and Transfer<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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    Once results are available, suitable embryos are selected for thawing and transfer, based on your medical and genetic consultation.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    Our Support<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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    Our team at Reproart is here to support you \u2014 from family history review to genetic counseling, IVF planning, and final embryo selection. We understand how personal and important this journey is, and we\u2019re here to make it effective, clearer and safer.<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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    Contact Personal Manager<\/h4>\t\t\t\t<\/div>\n\t\t\t\t
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    Make an appointment or request more information. Leave your contact details and our team will get in touch with you!<\/p><\/div><\/div>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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