Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

This study illustrates detection of peculiar abnormalities of chromosome 13 and supports potential to screen copy number variations with genome-wide NIPT.

Authors

Christos Aravidis (ORCID: https://orcid.org/0000-0002-4602-0088)
Izabella Baranowska Körberg (ORCID: https://orcid.org/0000-0001-6050-9296)
Maria Sobol (ORCID: https://orcid.org/0000-0002-5105-0687)
Anna Lindqvist
Hugo Hessel

Institutions

Uppsala University (SE)
Uppsala University Hospital (SE)
Science for Life Laboratory (SE)
Karlstad Central Hospital (SE)

Publication Details

Journal: European Journal of Obstetrics & Gynecology and Reproductive Biology
Published: 2024-10-06
DOI: https://doi.org/10.1016/j.ejogrb.2024.10.007
Primary Topic: Prenatal Screening and Diagnostics
Type: article
Field-Weighted Citation Impact: 0.00

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article

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Christos Aravidis, Izabella Baranowska Körberg, Maria Sobol, Anna Lindqvist et al.

Oct 6, 2024

European Journal of Obstetrics & Gynecology and Reproductive Biology

Prenatal Screening and Diagnostics

article

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Christos Aravidis, Izabella Baranowska Körberg, Maria Sobol, Anna Lindqvist, Hugo Hessel

October 6, 2024article en

Abstract

This study illustrates detection of peculiar abnormalities of chromosome 13 and supports potential to screen copy number variations with genome-wide NIPT.

European Journal of Obstetrics & Gynecology and Reproductive BiologyVol. 302

Uppsala University (SE), Uppsala University Hospital (SE), Science for Life Laboratory (SE), Karlstad Central Hospital (SE)

Zero hunger

Openalex Percentile: Top 73%

Prenatal Screening and Diagnostics

DOI Open Access PDF OpenAlex

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Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13 — Christos Aravidis, Izabella Baranowska Körberg, et al. · European Journal of Obstetrics & Gynecology and Reproductive Biology (2024) | TGRS Research Map | TGRS