Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Pallvi K. Singh

Women’s Health Service Line, Division of Maternal-Fetal Medicine, Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA

  • Research Article   
    A Retrospective Review of Copy Number Variants and Ultrasound-Detected Soft Markers
    Author(s): Kajal Angras*, Lindsay A. Bailey, Pallvi K. Singh, Amanda J. Young and John Ross

    Objective: To examine the association of copy number variants (CNV) among fetuses with ultrasound-detected soft markers (USM).  Methods: This IRB-approved retrospective cohort study of fetuses with prenatal or children with postnatal chromosomal microarray analysis (CMA) sought to examine an association between clinically relevant CNV (classified as pathogenic CNV or variants of uncertain significance (VUS)) and USM in women who delivered at Geisinger between January 2010 and July 2018. The following USM were evaluated: choroid plexus cyst, thickened nuchal fold, absent or hypoplastic nasal bone, echogenic intracardiac focus, echogenic bowel, short long bones, and urinary tract dilation. Fetuses or children with known aneuploidy or a single gene disorder were excluded. Odds ratios (OR) of the association between CNV and USM were reported a.. Read More»
    DOI: 10.37421/jmgm.2020.14.448

    Abstract HTML PDF

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