Whole genome prediction for preimplantation genetic diagnosis

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Title Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification

Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington’s disease using whole genome amplification Design: Case report Setting: University assisted reproduction unit Patient(s): A couple with family history of Huntington’s disease; the husband was carrying the expanded allele of the IT15 gene, while the wife had the normal allele. Intervention(s): PGD wi...

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Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.

OBJECTIVE To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. DESIGN Case report. SETTING University assisted reproduction unit. PATIENT(S) A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. INTERVENTION(S) Preimp...

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Preimplantation Genetic Diagnosis

Inherited genetic diseases have been a problem for some families attempting to conceive a child. If affected parents or carriers of genetic disorders wished to avoid transmitting a condition to their child, they can choose to have prenatal diagnosis of their foetus. Amniocentesis or chorionic villus sampling enables cells from the foetus to be collected and sent for genetic analysis. They could...

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Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...

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Preimplantation genetic diagnosis.

This article covers the rapidly advancing field of preimplantation genetic diagnosis (PGD), the molecular genetic analysis of cells taken from embryos formed through in vitro fertilization (IVF). The article focuses on current practices in patient management, relevant IVF and PGD procedures, molecular methods used in the genetic analysis, and technical difficulties that can affect test results....

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ژورنال

عنوان ژورنال: Genome Medicine

سال: 2015

ISSN: 1756-994X

DOI: 10.1186/s13073-015-0160-4