O40: Clinical utility of prenatal exome sequencing in a diverse cohort*

O40: Clinical utility of prenatal exome sequencing in a diverse cohort*

Bibliographic Details
Main Authors:	Mary Norton, Billie Lianoglou, Matthew Shear, Sara Ackerman, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Neil Risch, Pui-Yan Kwok, Anne Slavotinek, Teresa Sparks
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423006477

Similar Items

O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort
by: Teresa Sparks, et al.
Published: (2023-01-01)

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
by: Yusuph Mavura, et al.
Published: (2024-01-01)

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
by: Anne Slavotinek, et al.
Published: (2023-05-01)

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
by: Anne Slavotinek, et al.
Published: (2023-10-01)

“Let’s Just Wait Until She’s Born”: Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research
by: Julia E. H. Brown, et al.
Published: (2022-05-01)

Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis
by: Simon M. Outram, et al.
Published: (2022-07-01)

Osur et al.'s Implementation of misoprostol for postabortion care in Kenya and Uganda: a qualitative evaluation
by: Molly Moran, et al.
Published: (2013-07-01)

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges
by: Ewa Janicki, et al.
Published: (2023-02-01)

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
by: Guillaume Cogan, et al.
Published: (2023-09-01)

P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition
by: Amelie Pinard, et al.
Published: (2023-01-01)

Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
by: Antoni Borrell, et al.
Published: (2023-12-01)

Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency
by: Chunge Cao, et al.
Published: (2023-11-01)

Secondary findings in prenatal exome sequencing: Ethical and counseling challenges
by: Yu Yang, et al.
Published: (2022-07-01)

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing
by: Stephanie Rice, et al.
Published: (2023-01-01)

P786: Utility of whole exome sequencing in desperate prenatal patients
by: Zeynep Alpay Savasan, et al.
Published: (2024-01-01)

Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
by: Bian Xinyi, et al.
Published: (2023-05-01)

Opening Pandora's box? Ethical issues in prenatal whole genome and exome sequencing
by: Horn, R, et al.
Published: (2017)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
by: Xiaomei Shi, et al.
Published: (2021-01-01)

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
by: Zhu Xintong, et al.
Published: (2023-08-01)

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
by: Anna Kucińska-Chahwan, et al.
Published: (2022-04-01)

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory
by: Theodora Hei Tung Lai, et al.
Published: (2022-12-01)

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
by: Melissa Hill, et al.
Published: (2022-07-01)

Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives
by: Quinlan-Jones, E, et al.
Published: (2016)

Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing
by: Boardman, F, et al.
Published: (2022)

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China
by: Yanan Wang, et al.
Published: (2024-01-01)

Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review
by: Daniele Guadagnolo, et al.
Published: (2021-02-01)

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis
by: Montse Pauta, et al.
Published: (2021-10-01)

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations
by: You Wang, et al.
Published: (2023-09-01)

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
by: Frédéric Tran Mau-Them, et al.
Published: (2023-03-01)

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
by: Diderich KEM, et al.
Published: (2023-05-01)

The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype
by: Miao He, et al.
Published: (2021-07-01)

Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
by: Amna Iftikhar, et al.
Published: (2024-01-01)

P768: Clinical utility of prenatal exome sequencing: Insights from a 10-year cohort
by: Meghan Towne, et al.
Published: (2024-01-01)

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
by: Yayun Qin, et al.
Published: (2023-10-01)

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
by: Gordon K C Leung, et al.
Published: (2018-10-01)

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
by: Mengmeng Li, et al.
Published: (2024-01-01)

P781: Prenatal whole exome sequencing: Diagnostic yield, syndromic landscape, and incidence and uptake of secondary findings
by: Kayleigh Avello, et al.
Published: (2024-01-01)

Editorial: Fetal phenotypes of rare diseases: application and evaluation of prenatal exome sequencing and pathogenesis research of rare diseases
by: Yan Zhang, et al.
Published: (2023-05-01)

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature
by: Zilong Qiu, et al.
Published: (2022-05-01)

P604: Deciphering the clinical relevance of PIEZO1 variants detected by prenatal exome sequencing in nonimmune hydrops fetalis
by: Casey Brewer, et al.
Published: (2023-01-01)