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.
Asunto(s)
Pruebas Genéticas , Proteína Huntingtina/genética , Enfermedad de Huntington/diagnóstico , Diagnóstico Preimplantación , Adulto , Alelos , Femenino , Humanos , Enfermedad de Huntington/genética , Letonia , Inducción de la Ovulación/métodos , EmbarazoRESUMEN
Male factor infertility accounts for 40-50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.