Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing

2015 ◽  
Vol 35 (8) ◽  
pp. 823-825 ◽  
Author(s):  
Kalina Benedict ◽  
Christina S. Han ◽  
Neil S. Silverman ◽  
Deborah Krakow ◽  
Lawrence D. Platt
2016 ◽  
Vol 36 (4) ◽  
pp. 353-361 ◽  
Author(s):  
Giulia Breveglieri ◽  
Elisabetta Bassi ◽  
Silvia Carlassara ◽  
Lucia Carmela Cosenza ◽  
Patrizia Pellegatti ◽  
...  

2018 ◽  
Vol 33 (4) ◽  
pp. 572-578 ◽  
Author(s):  
Timothy J Lee ◽  
Daniel L Rolnik ◽  
Melody A Menezes ◽  
Andrew C McLennan ◽  
Fabricio da Silva Costa

2011 ◽  
Vol 31 (11) ◽  
pp. 1070-1076 ◽  
Author(s):  
Lauren C. Sayres ◽  
Megan Allyse ◽  
Mary E. Norton ◽  
Mildred K. Cho

2019 ◽  
Vol 7 (10) ◽  
pp. 1977-1981
Author(s):  
Luigia De Falco ◽  
Giovanni Savarese ◽  
Teresa Suero ◽  
Sonia Amabile ◽  
Raffaella Ruggiero ◽  
...  

Author(s):  
Sherry Sze Yee Ho ◽  
Angela Barrett ◽  
Henna Thadani ◽  
Cecille Laureano Asibal ◽  
Evelyn Siew-Chuan Koay ◽  
...  

AbstractPrenatal diagnosis of sex-linked disorders requires invasive procedures, carrying a risk of miscarriage of up to 1%. Cell-free fetal DNA (cffDNA) present in cell-free DNA (cfDNA) from maternal plasma offers a non-invasive source of fetal genetic material for analysis. Detection of Y-chromosome sequences in cfDNA indicates presence of a male fetus; in the absence of a Y-chromosome signal a female fetus is inferred. We aimed to validate the clinical utility of insertion-deletion polymorphisms (INDELs) to confirm presence of a female fetus using cffDNA.Quantitative real-time PCR (qPCR) for the Y-chromosome-specific sequence,Fetal sex was correctly determined in 77/82 (93.9%) cfDNA samples.We have validated a non-invasive prenatal test to confirm fetal sex as early as 6 gestational weeks using cffDNA from maternal plasma.


2012 ◽  
Vol 15 (6) ◽  
pp. 433-434 ◽  
Author(s):  
Jessica Mozersky ◽  
Michael T. Mennuti

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