Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray.

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Abstract

To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone.

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Journal

Journal ID (iso-abbrev): Prenat Diagn

Title: Prenatal diagnosis

Publisher: Wiley

ISSN (Electronic): 1097-0223

ISSN (Print): 0197-3851

Publication date (Electronic): January 2019

Volume: 39

Issue: 2

Affiliations

[1 ] Pauline Gandel Imaging Centre, The Royal Women's Hospital, Parkville, Australia.

[2 ] Department of Medicine and Radiology, University of Melbourne, Parkville, Australia.

[3 ] Pregnancy Research Centre, Department of Maternal Fetal Medicine, The Royal Women's Hospital, Parkville, Australia.

[4 ] Department of Obstetrics and Gynaecology, University of Melbourne, The Royal Women's Hospital, Parkville, Australia.

Article

DOI: 10.1002/pd.5410

PubMed ID: 30578730

SO-VID: 6b5a26aa-d2f7-41d8-bf95-34158b6cc41f

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