scholarly journals First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study

2012 ◽  
Vol 39 (5) ◽  
pp. 528-534 ◽  
Author(s):  
S. R. Ghaffari ◽  
A. R. Tahmasebpour ◽  
A. Jamal ◽  
S. Hantoushzadeh ◽  
L. Eslamian ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
First Trimester Screening ◽  
Serum Free ◽  
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.

scholarly journals Amniocentesis Following Positive First Trimester Combined Screening: A Comparative Study

2019 ◽  
Author(s):  
Fakhrolmolouk Yassaee ◽  
Reza Shekarriz-Foumani ◽  
Shima Sadeghi
Keyword(s):  
Chromosomal Abnormalities ◽  
Protein A ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Screening ◽  
Number Of Factors ◽  
Beta Human Chorionic Gonadotropin ◽  
Genetic Abnormalities ◽  
Trimester Screening

Abstract- The birth of a neonate with chromosomal abnormalities, e.g. Down syndrome has very serious problems for family, society, and for the neonate itself, and therefore prenatal evaluation is imperative in determining the fate of the fetus. This research aimed to assess the association and accuracy of amniocentesis with first-trimester combined screening. In this study, specimens from 1066 cases were analyzed for free Beta human chorionic gonadotropin, pregnancy-associated plasma protein A, along with nuchal translucency and nasal bone ultrasonography from October 2013 till November 2014. Upon observing positive screening, mothers underwent amniocentesis. Finally the amniocentesis results were compared with that of first-trimester screening. Our results determined a direct relation between the high age of the mother and gravidity with P of 0.001 and 0.020 with positive first-trimester screening. Our study attained a 92% accuracy rate of amniocentesis due to one case of mosaicism of trisomy 21, that was not diagnosed, because it was not requested by physician. Only 12 (17.1%) cases out of 70 (mothers with positive first-trimester screening) showed positive amniocentesis, which had a significant relationship with chromosomal abnormality. First trimester combined screening has very high accuracy (94.6%) in prediction of genetic abnormalities. The probability of positive first-trimester screening is directly influenced by number of factors, including the mother age and gravidity. Amniocentesis is necessary for all of mothers with positive first-trimester screening and will almost always detect chromosomal abnormalities.

First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers

2005 ◽  
Vol 25 (10) ◽  
pp. 901-905 ◽  
Author(s):  
Antoni Borrell ◽  
Anna Gonce ◽  
Josep M. Martinez ◽  
Virginia Borobio ◽  
Albert Fortuny ◽  
...  
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Serum Markers ◽  
Ductus Venosus ◽  
Doppler Studies ◽  
First Trimester Screening ◽  
Trimester Screening

scholarly journals P10.10: First trimester screening for chromosomal anomalies II-nasal bone and ductus venosus (pilot study)

2004 ◽  
Vol 24 (3) ◽  
pp. 323-323
Author(s):  
L. Lopes ◽  
R. A. M. Sá ◽  
M. B. Silva ◽  
P. Nassar ◽  
P. C. Gomes ◽  
...  
Keyword(s):  
Pilot Study ◽  
Nasal Bone ◽  
First Trimester ◽  
Ductus Venosus ◽  
Chromosomal Anomalies ◽  
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.

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