Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort-Reference-Cited by-同舟云学术

Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

Published:2021-10 Issue:4 Volume:58 Page:597-602
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Bevilacqua E.¹,Jani J. C.¹,Chaoui R.²^ORCID,Suk E.‐K. A.²,Palma‐Dias R.³^ORCID,Ko T.‐M.⁴,Warsof S.⁵,Stokowski R.⁶,Jones K. J.⁶^ORCID,Grati F. R.⁷,Schmid M.⁶^ORCID

Affiliation:

1. Department of Obstetrics and Gynecology, University Hospital Brugmann Université Libre de Bruxelles Brussels Belgium

2. Prenatal Diagnosis and Human Genetics Berlin Germany

3. The Royal Women's Hospital University of Melbourne Parkville VIC Australia

4. Genephile Bioscience Laboratory, Ko's Obstetrics & Gynecology Clinic Taipei City Taiwan

5. Eastern Virginia Medical School Norfolk VA USA

6. Roche Sequencing Solutions, Inc. San Jose CA USA

7. TOMA Advanced Biomedical Assays S.p.A, Impact Lab. Busto Arsizio Italy

Funder

F. Hoffmann-La Roche

Publisher

Wiley

Subject

Obstetrics and Gynecology,Radiology, Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.23699

Reference33 articles.

1. DM McDonald‐McGinn HS Hain BS Emanuel EH Zackai MP Adam HH Ardinger RA Pagon SE Wallace LJH Bean G Mirzaa A Amemiya 22q11.2 Deletion Syndrome

2. 22q11.2 deletion syndrome

3. Molecular genetics of 22q11.2 deletion syndrome

4. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

5. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

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