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Title: Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Journal Article · · Clinical Case Reports
DOI: https://doi.org/10.1002/ccr3.2389 · OSTI ID:1560738
ORCiD logo [1];  [1];  [1];  [2];  [1];  [1];  [1]
  1. AMES, Centro Polidiagnostico Strumentale Srl Naples Italy
  2. Department of Molecular Medicine and Medical Biotechnology University of Naples "Federico II" Naples Italy
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Abstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.

Sponsoring Organization:
USDOE
OSTI ID:
1560738
Journal Information:
Clinical Case Reports, Journal Name: Clinical Case Reports Journal Issue: 10 Vol. 7; ISSN 2050-0904
Publisher:
Wiley Blackwell (John Wiley & Sons)Copyright Statement
Country of Publication:
Country unknown/Code not available
Language:
English

References (17)

Prenatal supernumeray r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome journal July 1998
Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing journal September 2015
Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation journal October 2009
Sex discordance identification following non-invasive prenatal testing journal December 2017
Two SRY -negative XX male brothers without genital ambiguity journal September 1997
Prenatal diagnosis of 46, XX male fetus journal May 2006
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis journal September 2001
46,XX Sex Reversal journal November 2001
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder journal January 2011
Sequencing of Circulating Cell-free DNA during Pregnancy journal August 2018
Fetal Sex Chromosome Testing by Maternal Plasma DNA Sequencing: Clinical Laboratory Experience and Biology journal January 2015
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing journal January 2012
XX Sex Chromosomes in a Human Male: First Case journal January 1964
Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood journal March 2017
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive journal August 2014
Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples journal October 2014
46,XX Male Disorder of Sexual Development: A Case Report journal January 2013

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