Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?-Reference-Cited by-同舟云学术

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Published:2022-05-16 Issue:8 Volume:30 Page:967-975
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bourgon Nicolas,Garde Aurore,Bruel Ange-Line^ORCID,Lefebvre Mathilde,Mau-Them Frederic Tran^ORCID,Moutton Sebastien^ORCID,Sorlin Arthur,Nambot Sophie^ORCID,Delanne Julian,Chevarin Martin^ORCID,Pöe Charlotte,Thevenon Julien^ORCID,Lehalle Daphné,Jean-Marçais Nolween,Kuentz Paul^ORCID,Lambert Laetitia,El Chehadeh Salima,Schaefer Elise,Willems Marjolaine,Laffargue Fanny,Francannet Christine,Fradin Mélanie,Gaillard Dominique,Blesson Sophie,Goldenberg Alice,Capri Yline,Sagot Paul,Rousseau Thierry,Simon Emmanuel,Binquet Christine,Ascencio Marie-Laure,Duffourd Yannis,Philippe Christophe^ORCID,Faivre Laurence,Vitobello Antonio^ORCID,Thauvin-Robinet Christel^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01117-7.pdf

Reference18 articles.

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2. Best KE, Rankin J, Dolk H, Loane M, Haeusler M, Nelen V, et al. Multilevel analyses of related public health indicators: the European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators. Paediatr Perinat Epidemiol. 2020;34:122–9.

3. Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–20.

4. Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018;10:74.

5. Harris S, Gilmore K, Hardisty E, Lyerly AD, Vora NL. Ethical and counseling challenges in prenatal exome sequencing. Prenat Diagn. 2018;38:897–903.

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1. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders;Prenatal Diagnosis;2024-08-13

2. A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death;Genetics in Medicine;2024-07

3. Exome sequencing—one test to rule them all?;European Journal of Human Genetics;2022-07-22