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

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

Onderzoeksoutput: Poster

Samenvatting

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.

Originele taal-2	English
Aantal pagina's	1
Status	Published - 17 mrt. 2023
Evenement	23th Annual BeSHG meeting: To DNA and beyond - Dôme, Charleroi, Belgium Duur: 17 mrt. 2023 → 17 mrt. 2023 https://beshg.be/annual_meeting

Conference

Conference	23th Annual BeSHG meeting
Land/Regio	Belgium
Stad	Charleroi
Periode	17/03/23 → 17/03/23
Internet adres	https://beshg.be/annual_meeting

Citeer dit

Parijs, I., Brison, N., Vancoillie, L., Baetens, M., Blaumeiser, B., Boulanger, S., Desir, J., Dimitrov, B., Fieremans, N., Janssens, K., Janssens, S., Marichal, A., Menten, B., Meunier, C., Van Berkel, K., Van Den Bogaert, A., Devriendt, K., Van den Bogaert, K., & Vermeesch, J. (2023). P18. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles. Postersessie gepresenteerd op 23th Annual BeSHG meeting, Charleroi, Belgium.

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

abstract = "Maternally inherited 15q11-q13 duplications are generally found to cause more severeneurodevelopmental anomalies compared to paternally inherited duplications. However, thisassessment 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 frompregnant women during non-invasive prenatal screening (NIPS). We detect 23 15q11-q13duplications in 333,187 pregnant women (0.0069%), with an approximately equal distributionbetween maternal and paternal duplications. Maternally inherited duplications are always associatedwith a clinical phenotype (ranging from mild learning difficulties to intellectual impairment, epilepsyand 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.",

author = "Ilse Parijs and Nathalie Brison and Leen Vancoillie and Machteld Baetens and Bettina Blaumeiser and S{\'e}bastien Boulanger and Julie Desir and Boyan Dimitrov and Nathalie Fieremans and Katrien Janssens and Sandra Janssens and Axel Marichal and Bj{\"o}rn Menten and Colombine Meunier and {Van Berkel}, Kim and {Van Den Bogaert}, Ann and Koenraad Devriendt and {Van den Bogaert}, Kris and Joris Vermeesch",

year = "2023",

month = mar,

day = "17",

language = "English",

note = "23th Annual BeSHG meeting ; Conference date: 17-03-2023 Through 17-03-2023",

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Parijs, I, Brison, N, Vancoillie, L, Baetens, M, Blaumeiser, B, Boulanger, S, Desir, J, Dimitrov, B , Fieremans, N, Janssens, K, Janssens, S, Marichal, A, Menten, B, Meunier, C, Van Berkel, K , Van Den Bogaert, A, Devriendt, K, Van den Bogaert, K & Vermeesch, J 2023, 'P18. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles', 23th Annual BeSHG meeting, Charleroi, Belgium, 17/03/23 - 17/03/23.

TY - CONF

T1 - P18. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

AU - Parijs, Ilse

AU - Brison, Nathalie

AU - Vancoillie, Leen

AU - Baetens, Machteld

AU - Blaumeiser, Bettina

AU - Boulanger, Sébastien

AU - Desir, Julie

AU - Dimitrov, Boyan

AU - Fieremans, Nathalie

AU - Janssens, Katrien

AU - Janssens, Sandra

AU - Marichal, Axel

AU - Menten, Björn

AU - Meunier, Colombine

AU - Van Berkel, Kim

AU - Van Den Bogaert, Ann

AU - Devriendt, Koenraad

AU - Van den Bogaert, Kris

AU - Vermeesch, Joris

PY - 2023/3/17

Y1 - 2023/3/17

N2 - Maternally inherited 15q11-q13 duplications are generally found to cause more severeneurodevelopmental anomalies compared to paternally inherited duplications. However, thisassessment 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 frompregnant women during non-invasive prenatal screening (NIPS). We detect 23 15q11-q13duplications in 333,187 pregnant women (0.0069%), with an approximately equal distributionbetween maternal and paternal duplications. Maternally inherited duplications are always associatedwith a clinical phenotype (ranging from mild learning difficulties to intellectual impairment, epilepsyand 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.

AB - Maternally inherited 15q11-q13 duplications are generally found to cause more severeneurodevelopmental anomalies compared to paternally inherited duplications. However, thisassessment 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 frompregnant women during non-invasive prenatal screening (NIPS). We detect 23 15q11-q13duplications in 333,187 pregnant women (0.0069%), with an approximately equal distributionbetween maternal and paternal duplications. Maternally inherited duplications are always associatedwith a clinical phenotype (ranging from mild learning difficulties to intellectual impairment, epilepsyand 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.

M3 - Poster

T2 - 23th Annual BeSHG meeting

Y2 - 17 March 2023 through 17 March 2023

ER -