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Preimplantation genetic testing for monogenic disorders allows embryos to be selected before transfer when a couple carries a known pathogenic variant and the familial mutation is well characterized. The approach has been used for conditions ranging from thalassemia and cystic fibrosis to inherited cancer syndromes. For reproductive specialists, the pathway requires genetic counseling, validated molecular testing, IVF, embryo biopsy and coordinated laboratory quality assurance. PGT-M is not a substitute for prenatal diagnosis; confirmatory prenatal testing is still commonly discussed because embryo testing has technical limitations and residual risk. The technology is particularly valuable in families with a high reproductive burden from severe inherited disease, but access and cost may limit availability.
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Preimplantation genetic testing for monogenic disorders allows embryos to be selected before transfer when a couple carries a known pathogenic variant and the familial mutation is well characterized. The approach has been used for conditions ranging from thalassemia and cystic fibrosis to inherited cancer syndromes. For reproductive specialists, the pathway requires genetic counseling, validated molecular testing, IVF, embryo biopsy and coordinated laboratory quality assurance. PGT-M is not a substitute for prenatal diagnosis; confirmatory prenatal testing is still commonly discussed because embryo testing has technical limitations and residual risk. The technology is particularly valuable in families with a high reproductive burden from severe inherited disease, but access and cost may limit availability.
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