Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark-Reference-Cited by-同舟云学术

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Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Published:2020-05-26 Issue:6 Volume:99 Page:783-790
ISSN:0001-6349
Container-title:Acta Obstetricia et Gynecologica Scandinavica
language:en
Short-container-title:Acta Obstet Gynecol Scand

Author:

Becher Naja¹²³^ORCID,Andreasen Lotte²,Sandager Puk¹⁴,Lou Stina¹⁵^ORCID,Petersen Olav Bjørn¹⁴,Christensen Rikke²,Vogel Ida¹²⁶^ORCID

Affiliation:

1. Center for Fetal Diagnostics Aarhus University Hospital Aarhus Denmark

2. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

3. Department of Biomedicine Health, Aarhus University Aarhus Denmark

4. Department of Obstetrics and Gynecology Aarhus University Hospital Aarhus Denmark

5. DEFACTUM—Public Health & Health Services Research Central Denmark Region Aarhus Denmark

6. Department of Clinical Medicine Aarhus University Aarhus Denmark

Funder

Novo Nordisk Fonden

Publisher

Wiley

Subject

Obstetrics and Gynecology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aogs.13871

Reference31 articles.

1. Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings

2. Chromosomal microarray in fetuses with increased nuchal translucency

3. Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program

4. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

5. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

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1. 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

2. Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses;Prenatal Diagnosis;2024-05-12

3. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service;Prenatal Diagnosis;2024-03-05

4. Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?;Prenatal Diagnosis;2024-02-13

5. Letter to the Editor: Comment to Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844);European Journal of Medical Genetics;2024-02

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