Analysis of the impact of PAPP-A, free β-hCG and nuchal translucency thickness on the advanced first trimester screening

2012 ◽  
Vol 287 (3) ◽  
pp. 413-420 ◽  
Author(s):  
L. Berktold ◽  
C. v. Kaisenberg ◽  
P. Hillemanns ◽  
B. Vaske ◽  
P. Schmidt
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Β Hcg ◽  
The Impact

scholarly journals Erratum to: Analysis of the impact of PAPP-A, free β-hCG and nuchal translucency thickness on the advanced first trimester screening

2013 ◽  
Vol 288 (2) ◽  
pp. 467-467
Author(s):  
L. Berktold ◽  
C. S. von Kaisenberg ◽  
P. Hillemanns ◽  
B. Vaske ◽  
P. Schmidt
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Β Hcg ◽  
The Impact

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.

First-trimester screening with free β-hCG, PAPP-A, and nuchal translucency in pregnancies conceived by in vitro fertilization

2004 ◽  
Vol 191 (6) ◽  
pp. S44
Author(s):  
Sriram C. Perni ◽  
Mladen Predanic ◽  
Alexander Friedman ◽  
Claudel Jean-Pierre ◽  
Robin B. Kalish ◽  
...  
Keyword(s):  
In Vitro Fertilization ◽  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Vitro Fertilization ◽  
Trimester Screening ◽  
Β Hcg

The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening

2017 ◽  
Vol 37 (10) ◽  
pp. 975-982 ◽  
Author(s):  
Zara Richmond ◽  
Ron Fleischer ◽  
Maya Chopra ◽  
Jason Pinner ◽  
Mario D'Souza ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
First Trimester ◽  
Low Risk ◽  
First Trimester Screening ◽  
Non Invasive ◽  
Trimester Screening ◽  
The Impact
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