P18. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Sébastien Boulanger, Julie Desir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, Sandra Janssens, Axel Marichal, Björn Menten, Colombine Meunier, Kim Van Berkel, Ann Van Den Bogaert, Koenraad Devriendt, Kris Van den Bogaert, Joris Vermeesch

Research output: Unpublished contribution to conferencePoster

Abstract

Maternally inherited 15q11-q13 duplications are generally found to cause more severe
neurodevelopmental anomalies compared to paternally inherited duplications. However, this
assessment is mainly inferred from the study of patient populations, causing an ascertainment bias.
Here, we analyze the low coverage genome-wide cell-free DNA sequencing data obtained from
pregnant women during non-invasive prenatal screening (NIPS). We detect 23 15q11-q13
duplications in 333,187 pregnant women (0.0069%), with an approximately equal distribution
between maternal and paternal duplications. Maternally inherited duplications are always associated
with a clinical phenotype (ranging from mild learning difficulties to intellectual impairment, epilepsy
and psychiatric disorders), while paternal duplications are associated with milder phenotypes (from normal to learning difficulties and dyslexia). This data corroborates the difference in impact betweenpaternally and maternally inherited 15q11-q13 duplications, contributing to the improvement of genetic counselling. We recommend reporting 15q11-q13 duplications identified during genomewide NIPS with appropriate genetic counselling for these pregnant women in the interest of both mothers and future children.
Original languageEnglish
Number of pages1
Publication statusPublished - 17 Mar 2023
Event23th Annual BeSHG meeting: To DNA and beyond - Dôme, Charleroi, Belgium
Duration: 17 Mar 202317 Mar 2023
https://beshg.be/annual_meeting

Conference

Conference23th Annual BeSHG meeting
Country/TerritoryBelgium
CityCharleroi
Period17/03/2317/03/23
Internet address

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