View : 77 Download: 0

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

Title
Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results
Authors
Bunnell, M.Zhang, C.Lee, C.Bianchi, D. W.Wilkins-Haug, L.
Ewha Authors
Charles Lee
SCOPUS Author ID
Charles Leescopus
Issue Date
2017
Journal Title
PRENATAL DIAGNOSIS
ISSN
0197-3851JCR Link1097-0223JCR Link
Citation
vol. 37, no. 4, pp. 416 - 419
Publisher
WILEY
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental mosaicism. (c) 2017 John Wiley & Sons, Ltd.
DOI
10.1002/pd.5022
Appears in Collections:
자연과학대학 > 생명과학전공 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE