scholarly journals X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies

2002 ◽  
Vol 8 (11) ◽  
pp. 1042-1045 ◽  
Author(s):  
V. Cirigliano
2015 ◽  
Vol 445 ◽  
pp. 2-6 ◽  
Author(s):  
Balint Nagy ◽  
Richard Gyula Nagy ◽  
Levente Lazar ◽  
Julianna Schonleber ◽  
Csaba Papp ◽  
...  

2008 ◽  
Vol 12 (4) ◽  
pp. 595-605 ◽  
Author(s):  
Toso Plaseski ◽  
Predrag Noveski ◽  
Svetlana Trivodalieva ◽  
Georgi D. Efremov ◽  
Dijana Plaseska-Karanfilska

2002 ◽  
Vol 22 (5) ◽  
pp. 360-365 ◽  
Author(s):  
Chrysanthy Bili ◽  
Aspasia Divane ◽  
Angela Apessos ◽  
Tassis Konstantinos ◽  
Athanasiadis Apostolos ◽  
...  

2004 ◽  
Vol 19 (3) ◽  
pp. 341 ◽  
Author(s):  
Moon-Hee Lee ◽  
Hyun-Mee Ryu ◽  
Do-Jin Kim ◽  
Bom-Yi Lee ◽  
Eun-Hee Cho ◽  
...  

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
J. J. P. M. Pieters ◽  
A. J. A. Kooper ◽  
A. Geurts van Kessel ◽  
D. D. M. Braat ◽  
A. P. T. Smits

Objective. To assess the diagnostic relevance of incidental prenatal findings of sex chromosome aneuploidies. Methods. We searched with medical subject headings (MeSHs) and keywords in Medline and the Cochrane Library and systematically screened publications on postnatally diagnosed sex chromosomal aneuploidies from 2006 to 2011 as well as publications on incidentally prenatally diagnosed sex chromosomal aneuploidies from 1980 to 2011. Results. Postnatally diagnosed sex chromosomal aneuploidies demonstrated three clinical relevant domains of abnormality: physical (22–100%), behavior (0–56%), and reproductive health (47–100%), while incidentally prenatally diagnosed sex chromosomal aneuploidies demonstrated, respectively, 0–33%, 0–40%, and 0–36%. Conclusion. In the literature incidental prenatal diagnosis of sex chromosomal aneuploidies is associated with normal to mildly affected phenotypes. This contrasts sharply with those of postnatally diagnosed sex chromosomal aneuploidies and highlights the importance of this ascertainment bias towards the prognostic value of diagnosis of fetal sex chromosomal aneuploidies. This observation should be taken into account, especially when considering excluding the sex chromosomes in invasive prenatal testing using Rapid Aneuploidy Detection.


2021 ◽  
Vol 116 (3) ◽  
pp. e149-e150
Author(s):  
Ann Korkidakis ◽  
Abigail Groff ◽  
Jaimin S. Shah ◽  
Angela Q. Leung ◽  
Alan S. Penzias ◽  
...  

2013 ◽  
Vol 2013 (sep17 1) ◽  
pp. bcr2013009041-bcr2013009041
Author(s):  
I. Castro-Volio ◽  
F. Ortiz-Morales ◽  
L. Valle-Bourrouet ◽  
W. Malespin-Bendana

2007 ◽  
Vol 11 (2) ◽  
pp. 117-121 ◽  
Author(s):  
Cecilia Bussani ◽  
Riccardo Cioni ◽  
Alberto Mattei ◽  
Massimiliano Fambrini ◽  
Mauro Marchionni ◽  
...  

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