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Article

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.

Human reproduction update - 1 Oct 2024

Capalbo Antonio, de Wert Guido, Mertes Heidi, Klausner Liraz, Coonen Edith, Spinella Francesca, Van de Velde Hilde, Viville Stephane, Sermon Karen, Vermeulen Nathalie, Lencz Todd, Carmi Shai

Abstract excerpt

BACKGROUND: The genetic composition of embryos generated by in vitro fertilization (IVF) can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. Recent advances have made genome-wide genotyping of IVF embryos feasible and affordable, raising the possibility of screening embryos...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38805697
DOI: 10.1093/humupd/dmae012
PMCID: PMC11369226

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