Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
Open Access
- 3 September 2015
- journal article
- Published by Wiley in Clinical Case Reports
- Vol. 3 (10) , 849-853
- https://doi.org/10.1002/ccr3.352
Abstract
Key Clinical message Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF‐PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT.Keywords
This publication has 16 references indexed in Scilit:
- Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positiveBMC Urology, 2014
- Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first‐line test: results from over 1000 consecutive casesUltrasound in Obstetrics & Gynecology, 2013
- Prenatal screening methods for aneuploidiesNorth American Journal of Medical Sciences, 2013
- 46,XX Male Disorder of Sexual Development: A Case ReportJournal of Clinical Research in Pediatric Endocrinology, 2013
- The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile MaleJournal of Clinical and Diagnostic Research, 2013
- Two Males with SRY-Positive 46,XX Testicular Disorder of Sex DevelopmentSystems Biology in Reproductive Medicine, 2012
- Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18American Journal of Obstetrics and Gynecology, 2012
- Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluationPrenatal Diagnosis, 2009
- Prenatal diagnosis of 46, XX male fetusJournal of Assisted Reproduction and Genetics, 2006
- Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosisThe Lancet, 2001