Preimplantation Genetic Diagnosis T he opportunity to exclude in-vitro derived embryos with documented genetic abnormalities before the initiation of pregnancy is an attractive means of preventing heritable genetic disease. Currently couples who are carriers of genetic disease have the option of undergoing chorionic villus sampling in the first trimester or amniocentesis in the second trimester...

Next-generation sequencing (NGS) for PGT has improved the resolution detecting mosaicism, which creates challenging embryo transfer decisions. Currently, there is a growing bulk of reports about mosaic transfers and their clinical outcomes. We consider that evidence still limited regarding factors could be related to risk mosaicism outcome after transfer. This study sought understand if embryos...

Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a s...

Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far. A clinical diagnosis of FA needs to be confirmed by testing cells for sensitivity to cross-linking agents in a chromosomal breakage test. As a second step, DNA testing...

Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing children for adult conditions, and selection of conditions to be reported on, illuminates concerns for ...

BACKGROUND The aim of this study was to develop and use theoretical models to investigate the accuracy of the fluorescence in situ hybridization (FISH) technique in testing a single nucleus from a preimplantation embryo without the complicating effect of mosaicism. METHODS Mathematical models were constructed for three different applications of FISH in preimplantation genetic testing (sex det...