P202: Understanding parental experiences from prenatal cfDNA results to XYY diagnosis: Implications for genetic counseling from the eXtraordinarY Babies Study

Genetics in Medicine Open 2026 Open access

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Authors: Brittany McVicar, Kayla Molison, Madeline Halseth, Susan Howell, Shanlee Davis, Nicole R. Tartaglia, Talia Thompson
DOI: 10.1016/j.gimo.2026.103696
Cited by: 0

Abstract

47,XYY is an understudied sex chromosome trisomy (SCT) occurring in 1 in 1,000 males. Prenatally identified 47,XYY has increased with expanded use of prenatal cell-free DNA (cfDNA) screening. However, current literature offers limited guidance on genetic counseling in prenatally identified 47,XYY. This study aims to investigate key factors influencing 1) parental emotional experiences, 2) perceived quality of genetic counseling, 3) timing of diagnostic confirmation, and 4) facilitators and barriers to parental adjustment.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Sexual Differentiation and Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103696–103696
Publication date
1 January 2026
Language
EN