Preimplantation genetic testing in myotonic dystrophy type 1: outcomes in a nationwide Dutch cohort
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is caused by an autosomal dominantly inherited cytosine-thymine-guanine (CTG) repeat expansion in the DMPK gene.1 Longer repeats are associated with earlier onset and more severe disease, but overlap in repeat sizes between subtypes makes prediction of disease severity in offspring unreliable.2 The repeat tends to expand upon transmission (anticipation): mothers with adult-onset DM1 are at highest risk of having a child with congenital DM1, whereas small repeats expand mainly on paternal transmission.3 4 These genetic features complicate reproductive decision-making. Besides natural conception with prenatal diagnosis (PND), in vitro fertilisation (IVF) with preimplantation genetic testing (PGT) allows transfer of unaffected embryos only. For monogenic disorders overall, a clinical pregnancy rate of around 32% per embryo transfer is reported,5 but DM1-specific data are limited,6 7...
Source: Journal of Neurology, Neurosurgery & Psychiatry - Online First Published 02 Nov 2026 Imported 02 Nov 2026 Relevancy: Not reviewed
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