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Preimplantation Genetic Testing for Monogenic Disorders is a laboratory test performed on embryos created through in vitro fertilization, used to check whether an embryo has inherited a specific, already-known genetic change that runs in a family. Unlike general health screening, this test does not look broadly for “any” genetic problem. It is built around one particular change, called a pathogenic/ likely pathogenic variant, that has already been identified in a parent, a previous child, or another close relative through earlier genetic testing and is confirmed to be the cause of a severe genetic condition. Because the change is known in advance, the laboratory can design a test specifically for that family before the embryos are even created.
Couples usually consider this option when they already know they carry, or are affected by, a serious single-gene condition and want to reduce the chance of passing it on to a child. Common reasons for pursuing it include a personal or family history of conditions such as cystic fibrosis, sickle cell disease, spinal muscular atrophy, thalassemia, etc.
The key difference from prenatal diagnosis is timing. Chorionic villus sampling and amniocentesis test a pregnancy that has already begun, which can mean facing a difficult decision about continuing or ending that pregnancy if a result is unfavourable. Preimplantation Genetic Testing for Monogenic Disorders instead identifies which embryos are unaffected before a pregnancy is established, so that only those embryos are considered for transfer. It does not guarantee a pregnancy or a healthy child in every other respect, but it directly addresses the one specific genetic change the family already knows about.
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