Routine detection of consanguinity through preimplantation genetic testing in human embryos.

Catherine Kratka¹, Jia Xu¹, Jennifer Eccles¹, Diego Marin², Nathan Treff³

¹Genomic Prediction Inc., North Brunswick Township, New Jersey, USA.

²Genomic Prediction Inc., North Brunswick Township, New Jersey, USA.. Electronic address: diego@genomicprediction.com.

³Genomic Prediction Inc., North Brunswick Township, New Jersey, USA.; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University, New Brunswick, New Jersey, USA.

PubMed DOI

Abstract

RESEARCH QUESTION: Can a single-nucleotide polymorphism array-based preimplantation genetic testing (PGT) platform routinely detect consanguinity in preimplantation embryos? DESIGN: A validation set consisting of 29 clinical PGT cases (five cases with confirmed consanguinity [positive control cases] and 24 randomly selected non-consanguineous cases [negative control cases]) was used to define a g…

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