P741: Uncovering incidental parental chromosomal abnormalities through preimplantation genetic testing for aneuploidy

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Authors: Roni Zemet Lazar, Ashley Spector, Hailie N. Ciomperlik, Laurie Jane McKenzie, Laura Detti, Ignatia B. Van den Veyver, Sandra A. Darilek, Ignatia Van den Veyver
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Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) is increasingly utilized to detect embryo aneuploidy, but may also identify some copy number variants (CNVs) with clinical implications. Current practice lacks standard guidelines for parental testing when embryo results suggest inherited chromosomal abnormalities. This study explored the incidence, inheritance, and clinical impact of incidental parental chromosomal abnormalities detected through PGT-A.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104233–104233
Publication date
1 January 2026
Language
EN