scholarly journals Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy

2016 ◽  
Vol 47 (6) ◽  
pp. 705-711 ◽  
Author(s):  
L. Sarno ◽  
R. Revello ◽  
E. Hanson ◽  
R. Akolekar ◽  
K. H. Nicolaides
Keyword(s):  
Twin Pregnancy ◽  
First Trimester ◽  
Maternal Blood ◽  
First Trimester Screening ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Trimester Screening

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

First-Trimester Contingent Screening for Trisomies 21, 18, and 13 by Biomarkers and Maternal Blood Cell-Free DNA Testing

2014 ◽  
Vol 69 (9) ◽  
pp. 529-531
Author(s):  
K.H. Nicolaides ◽  
A. Syngelaki ◽  
L.C. Poon ◽  
M.M. Gil ◽  
D. Wright
Keyword(s):  
Blood Cell ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals 610: Actual rates of recommended diagnostic testing after first trimester screening vs. same-day screening by cell free DNA

2016 ◽  
Vol 214 (1) ◽  
pp. S326 ◽  
Author(s):  
Arin Buresch ◽  
Mara Rosner ◽  
Barrie Suskin ◽  
Francine Einstein ◽  
Emnonila Bircaj ◽  
...  
Keyword(s):  
Diagnostic Testing ◽  
First Trimester ◽  
First Trimester Screening ◽  
Cell Free Dna ◽  
Free Dna ◽  
Trimester Screening

scholarly journals Cell-free DNA testing in the maternal blood in high-risk pregnancies after first-trimester combined screening

2016 ◽  
Vol 36 (3) ◽  
pp. 232-236 ◽  
Author(s):  
Nicola Persico ◽  
Simona Boito ◽  
Benedetta Ischia ◽  
Adalgisa Cordisco ◽  
Valentina De Robertis ◽  
...  
Keyword(s):  
High Risk ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

First-Trimester Contingent Screening for Trisomies 21, 18 and 13 by Biomarkers and Maternal Blood Cell-Free DNA Testing

2013 ◽  
Vol 35 (3) ◽  
pp. 185-192 ◽  
Author(s):  
K.H. Nicolaides ◽  
A. Syngelaki ◽  
L.C. Poon ◽  
M.M. Gil ◽  
D. Wright
Keyword(s):  
Blood Cell ◽  
First Trimester ◽  
Maternal Blood ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

scholarly journals SIGNIFICANCE OF LOW MATERNAL SERUM Β-HCG LEVELS IN THE ASSESSMENT OF THE RISK OF ATYPICAL CHROMOSOMAL ABNORMALITIES

2021 ◽  
Author(s):  
Robin Wijngaard ◽  
Elena Casals ◽  
Imma Mercadé ◽  
Javier Laguna ◽  
Irene Madrigal ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Serum ◽  
First Trimester Screening ◽  
Cell Free Dna ◽  
Substantial Impact ◽  
Free Dna ◽  
Trimester Screening ◽  
Β Hcg ◽  
The Impact

Introduction: The introduction of prenatal cell-free DNA as a screening test has surpassed traditional combined first-trimester screening (cFTS) in the detection of common trisomies. However, its current limitation in detecting only common trisomies is affecting the diagnostic yield for other clinically significant chromosomal abnormalities. Methods: In efforts to optimize the detection of fetuses with genetic abnormalities, we have analyzed the relationship between the cFTS risk score and biomarkers with atypical chromosomal abnormalities. Furthermore, we have evaluated the impact of prenatal cell-free DNA screening on the detection of chromosomal abnormalities in our population. For these purposes, we performed a retrospective study of 877 singleton pregnancies who underwent chromosomal microarray analysis (CMA) between 2013 to 2020 and for whom first-trimester screening data were available. Results: The results demonstrated that low levels of free beta human chorionic gonadotropin (β-hCG) (≤ 0.37 MoM) and increased fetal nuchal translucency (NT) (≥ 3.5mm) were statistically associated with the presence of atypical chromosomal abnormalities. In fact, the risk of pathogenic CMA results increased from 6% to 10% when fetal NT was increased and from 6% to 20% when a low serum β-hCG level was detected in the high-risk cFTS group. Moreover, our results showed that altered serum levels of β-hCG can have a substantial impact on the early detection of clinically relevant copy number variants. Discussion/Conclusion: Traditional cFTS can potentially identify a substantial proportion of atypical chromosomal aberrations, and women with increased NT or low maternal serum β-hCG levels are at increased risk of having pathogenic CMA results. Our results may help clinicians and women decide whether invasive testing or prenatal cell-free DNA screening testing are more appropriate for each situation.

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