scholarly journals Elevated levels of total (maternal and fetal) β-globin DNA in maternal blood from first trimester pregnancies with trisomy 21

2007 ◽  
Vol 22 (8) ◽  
pp. 2267-2272 ◽  
Author(s):  
Carolina J. Jorgez ◽  
Dianne D. Dang ◽  
Ronald Wapner ◽  
Antonio Farina ◽  
Joe Leigh Simpson ◽  
...  
2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  

The Lancet ◽  
1992 ◽  
Vol 340 (8826) ◽  
pp. 1033 ◽  
Author(s):  
Sherman Elias ◽  
James Price ◽  
Michael Dockter ◽  
Stephen Wachtel ◽  
Avirachan Tharapel ◽  
...  

2013 ◽  
Vol 42 (1) ◽  
pp. 41-50 ◽  
Author(s):  
K. H. Nicolaides ◽  
D. Wright ◽  
L. C. Poon ◽  
A. Syngelaki ◽  
M. M. Gil

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Malgorzata Ilona Srebniak ◽  
Maarten F. C. M. Knapen ◽  
Marieke Joosten ◽  
Karin E. M. Diderich ◽  
Sander Galjaard ◽  
...  

AbstractMany major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not only the earliest diagnosis of trisomy 21 (the most prevalent chromosome aberration), but also completion of the screening at 12–14 weeks. To ensure proper management and avoid unnecessary anxiety abnormal NIPT different from trisomy 21, 18 and 13 should be referred for genetic counseling.


2012 ◽  
Vol 1822 (11) ◽  
pp. 1660-1670 ◽  
Author(s):  
Stefania Gessi ◽  
Stefania Merighi ◽  
Angela Stefanelli ◽  
Prisco Mirandola ◽  
Alessandra Bonfatti ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Jeroen L. A. Pennings ◽  
Jacqueline E. Siljee ◽  
Sandra Imholz ◽  
Sylwia Kuc ◽  
Annemieke de Vries ◽  
...  

We compared how measurements of pregnancy-associated plasma protein A (PAPP-A) and the free beta subunit of human chorionic gonadotropin (fβ-hCG) in maternal blood are influenced by different methods for blood collection, sample matrix, and immunoassay platform. Serum and dried blood spots (DBS) were obtained by venipuncture and by finger prick of 19 pregnant women. PAPP-A and fβ-hCG from serum and from DBS were measured by conventional indirect immunoassay on an AutoDELFIA platform and by antibody microarray. We compared methods based on the recoveries for both markers as well as marker levels correlations across samples. All method comparisons showed high correlations for both marker concentrations. Recovery levels of PAPP-A from DBS were 30% lower, while those of fβ-hCG from DBS were 50% higher compared to conventional venipuncture serum. The recoveries were not affected by blood collection or immunoassay method. The high correlation coefficients for both markers indicate that DBS from finger prick can be used reliably in a prenatal screening setting, as a less costly and minimally invasive alternative for venipuncture serum, with great logistical advantages. Additionally, the use of antibody arrays will allow for extending the number of first trimester screening markers on maternal and fetal health.


2010 ◽  
Vol 36 (5) ◽  
pp. 542-547 ◽  
Author(s):  
K. O. Kagan ◽  
I. Staboulidou ◽  
J. Cruz ◽  
D. Wright ◽  
K. H. Nicolaides

2004 ◽  
Vol 104 (4) ◽  
pp. 661-666 ◽  
Author(s):  
Lawrence D. Platt ◽  
Naomi Greene ◽  
Anthony Johnson ◽  
Julia Zachary ◽  
Elizabeth Thom ◽  
...  

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