Single Molecule Sequencing A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype

Publication date: Available online 18 November 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Svetlana Rechitsky, Anver Kuliev, Geraldine San Ramon, Ilan Tur-Kaspa, Yin Wang, Wenjie Wang, Xueqing Wu, Li Wang, Don Leigh, David S. CramWe investigated the potential of next-generation sequencing (NGS) as an alternative methodology for preimplantation genetic testing of monogenic disease (PGT-M) with HLA matching and for noninvasive prenatal diagnosis follow up. The case involved parents who were carriers of the FANCG 260delG mutation. Following clinical PGT using conventional STR and mutation analysis, two euploid disease-free embryos were transferred resulting in a twin pregnancy. Using the original embryo whole genome amplification products from 10 embryos, NGS confirmed the genotypes of the eight non-transferred embryos for both mutation status and HLA combination. NGS also confirmed that the two transferred embryos, which resulted in a twin pregnancy, were euploid, Fanconi disease free and HLA matched to their sick sibling. At 15 weeks gestation, noninvasive prenatal diagnosis of the maternal cell-free DNA determined fetal fractions of 14% and 6.6% for twins 1 and 2, respectively. The maternal plasma FANCG 260delG mutation ratio was measured at 46.2%, consistent with the presence of a carrier fetus and a normal fetus. These findings provide proof of concept that NGS has clinical utility as a safe and effective PGT-M methodology for embryo genotyping as well as mor...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research

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Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
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Source: Revista Brasileira de Farmacognosia - Category: Drugs & Pharmacology Source Type: research
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