scholarly journals OP17.05: Outcomes in case of low PAPP-A and free β-HCG in maternal serum at first trimester screening

2013 ◽  
Vol 42 (s1) ◽  
pp. 96-96
Author(s):  
B. Deloison ◽  
F. Muller ◽  
S. Dreux ◽  
I. Czerkiewicz ◽  
D. Sokolov ◽  
...  
Keyword(s):  
First Trimester ◽  
Maternal Serum ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Β Hcg

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.

Maternal serum placental growth factor and α -fetoprotein testing in first trimester screening for Down syndrome

2013 ◽  
Vol 33 (5) ◽  
pp. 457-461 ◽  
Author(s):  
Kim Donalson ◽  
Steve Turner ◽  
Lesley Morrison ◽  
Päivi Liitti ◽  
Christel Nilsson ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Growth Factor ◽  
First Trimester ◽  
Maternal Serum ◽  
Placental Growth Factor ◽  
First Trimester Screening ◽  
Trimester Screening

scholarly journals The effect of maternal alcohol and drug abuse on first trimester screening analytes: a retrospective cohort study

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Anni Lehikoinen ◽  
Raimo Voutilainen ◽  
Jarkko Romppanen ◽  
Seppo Heinonen
Keyword(s):  
Protein A ◽  
Serum Levels ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Drug Abusers ◽  
Alcohol Abusers ◽  
Trimester Screening ◽  
Alcohol And Drug Abuse ◽  
Β Hcg

Abstract Background The purpose of this study was to determine whether first trimester trisomy screening (FTS) parameters are affected by alcohol and drug use. Methods A routine combined FTS including measurements of maternal serum levels of free β-human chorionic gonadotropin subunit (free β-hCG) and pregnancy-associated plasma protein A (PAPP-A) were measured at 9–11 weeks of gestation, and fetal nuchal translucency thickness (NTT) at 11–13 weeks of gestation. In total 544 women with singleton pregnancies [71 alcohol and drug abusers, 88 smokers, 168 non-smokers delivering a small for gestational age (SGA) child, and 217 unexposed control women] were assessed. Results Free β-hCG levels were higher in alcohol and drug abusing than in unexposed pregnant women [mean 1.5 vs. 1.2 multiples of medians (MoM); P = 0.013]. However, stepwise multiple linear regression analyses suggested that smoking could explain increased free β-hCG. Additionally, we observed lower PAPP-A levels in the smoking mothers (0.9 vs. 1.2 MoM; P = 0.045) and in those giving birth to an SGA child compared to the controls (1.1 vs.. 1.2 MoM; P < 0.001). Fetal NTT did not differ significantly between any of the groups. Conclusions The present study shows increased free β-hCG levels in alcohol and drug abusers, but maternal smoking may explain the result. Maternal serum PAPP-A levels were lower in smoking than non-smoking mothers, and in mothers delivering an SGA child. However, FTS parameters (PAPP-A, free β-hCG and NTT) seem not to be applicable for the use as alcohol biomarkers because of their clear overlap between alcohol abusers and healthy controls.

Maternal serum free ß-hCG and PAPP-A in patients with habitual abortion-influence on first-trimester screening for chromosomal abnormalities

2007 ◽  
Vol 27 (9) ◽  
pp. 814-816 ◽  
Author(s):  
J. Heinig ◽  
J. Steinhard ◽  
R. Schmitz ◽  
J.-R. Nofer ◽  
L. Kiesel ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Serum ◽  
First Trimester Screening ◽  
Serum Free ◽  
Habitual Abortion ◽  
Trimester Screening
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