First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?

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Abstract

To evaluate the association of first-trimester absent nasal bone (NB) and genetic abnormalities at G-banding karyotype and chromosomal microarray analysis (CMA) according to the nuchal translucency (NT) thickness.

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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): December 2020

Volume: 40

Issue: 12

Affiliations

[1 ] Unit of Fetal Medicine and Prenatal Diagnosis, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.

[2 ] Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

[3 ] Department of Medical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.

[4 ] Neonatal Intensive Care Unit, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.

Article

DOI: 10.1002/pd.5812

PubMed ID: 32799336

SO-VID: 9ee24302-282c-418b-9b6b-4257b30cfd87

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