RESUMEN
Aim: The aim of this study is to summarize the outcomes of transfers of mosaic embryos, which were classified according to guidelines and in strong collaboration of reproductologists, clinical geneticists and patients approved as suitable for transfer. Material and Methods: Retrospective data were collected from 70 patients from a private IVF center to whom embryos with mosaic changes in chromosomal material were transferred from 2015 to 2019. Results and Conclusion: Implantation outcomes and continuing pregnancies showed slight differences, when compared to fully normal embryos. Artifacts have to be differentiated from undeniable aberrations, and correct interpretation of results must be done with following patient counselling and prenatal testing if necessary.
Asunto(s)
Transferencia de Embrión/estadística & datos numéricos , Mosaicismo/estadística & datos numéricos , Resultado del Embarazo/epidemiología , Adulto , Estudios de Casos y Controles , Femenino , Clínicas de Fertilidad , Fertilización In Vitro/estadística & datos numéricos , Pruebas Genéticas/estadística & datos numéricos , Historia del Siglo XXI , Humanos , Letonia/epidemiología , Mosaicismo/embriología , Embarazo , Diagnóstico Preimplantación/estadística & datos numéricos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Huntington's disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.