P724: A deep intronic pentanucleotide AAAAT repeat expansion in KATNA1 as a novel cause of recurrent triploidy of maternal origin

Genetics in Medicine Open 2026 Open access

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Authors: Christina G. Tise, Allison R. Cheney, Sophia M. Adelson, Max Ezzati, Jonathan Adam Bernstein, Stephen B. Montgomery, Matthew Thomas Wheeler
DOI: 10.1016/j.gimo.2026.104216
Cited by: 0

Abstract

Triploidy (3 full sets of chromosomes instead of 2) is observed in 2-3% of recognized conceptions and accounts for approximately 20% of first-trimester pregnancy losses. Recurrent triploidy, particularly due to a single parent of origin, is extremely rare, and while likely genetic in etiology, no locus has been definitely linked to the condition. An otherwise healthy 39-year-old female with a normal karyotype and history of 14 pregnancy losses was evaluated by Medical Genetics. Her most recent loss and first pregnancy to be conceived via in vitro fertilization was identified to have triploidy of maternal origin.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Reproductive System and Pregnancy Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104216–104216
Publication date
1 January 2026
Language
EN