scholarly journals Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies

2020 ◽  
Vol 40 (11) ◽  
pp. 1474-1481
Author(s):  
Nicola Persico ◽  
Simona Boito ◽  
Paolo Volpe ◽  
Benedetta Ischia ◽  
Mattia Gentile ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Low Risk ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
First Trimester Ultrasound

Cell-Free DNA Screening for Fetal Aneuploidy

2021 ◽  
pp. 115-120
Author(s):  
Ashley N. Battarbee ◽  
Neeta L. Vora
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
First Trimester ◽  
Outcome Data ◽  
Cell Free Dna ◽  
High Risk Women ◽  
Free Dna ◽  
Trimester Screening

In a prospective, multicenter blinded study at 35 international centers, the Noninvasive Examination of Trisomy (NEXT) study evaluated the performance of cell-free DNA screening for fetal trisomy compared to standard first trimester screening with nuchal translucency and serum analytes in a routine prenatal population. Among the 15,841 women who had standard screening and cell-free DNA analysis with neonatal outcome data, there were 68 chromosomal abnormalities (1 in 236). Of these, 38 were Trisomy 21 (1 in 417). Cell-free DNA analysis had a higher area under the curve (AUC) for trisomy 21, compared to standard screening (0.999 vs. 0.958, p = 0.001). Cell-free DNA analysis also had greater sensitivity, specificity, and positive predictive value compared to standard screening for trisomy 21, 18, and 13. While cell-free DNA analysis cannot detect all chromosome abnormalities, it performed better than standard screening for detection of trisomies 21, 18, and 13 in a routine population including low- and high-risk women.

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.

Impact of introducing cell‐free DNA screening into clinical care on first trimester ultrasound

2022 ◽  
Author(s):  
Georgios Doulaveris ◽  
Catherine M. Igel ◽  
Fatima Estrada Trejo ◽  
Desiree Fiorentino ◽  
Sara Rabin‐Havt ◽  
...  
Keyword(s):  
Clinical Care ◽  
First Trimester ◽  
Cell Free Dna ◽  
Free Dna ◽  
First Trimester Ultrasound

First‐trimester accuracy of cell‐free DNA test for trisomy 21 screening in twin pregnancies

2020 ◽  
Author(s):  
E. Gottardi ◽  
J.‐M. Costa ◽  
P. Kleinfinger ◽  
L. Lohmann ◽  
J. Carrara ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Twin Pregnancies

Factors associated with test failure in pregnant women undergoing cell-free DNA-based testing for fetal trisomy

2021 ◽  
pp. 096914132110099
Author(s):  
Jiazhen Chang ◽  
Qingwei Qi ◽  
Xiya Zhou ◽  
Yulin Jiang ◽  
Na Hao ◽  
...  
Keyword(s):  
High Risk ◽  
Risk Group ◽  
Maternal Serum ◽  
High Risk Group ◽  
Low Risk ◽  
Maternal Serum Screening ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Test Failure

Objective To investigate the factors associated with cell-free DNA test failure, and the optimal subsequent management of these pregnancies. Methods This was a retrospective study of 27,363 singleton pregnancies undergoing cell-free DNA testing. Women with cell-free DNA test failure were divided into a high-risk group and a low-risk group according to their indications. The subsequent management and pregnancy outcomes of these women were followed up. Results The rate of cell-free DNA test failure at the first sampling was 1.49%, and 78.4% of failures were due to a low fetal fraction. Of the 66 women who refused any subsequent management, an adverse pregnancy outcome was seen in 5 cases, all belonging to the high-risk group. Of the 13 low-risk women who chose second-trimester maternal serum screening, all obtained a low-risk maternal serum screening result and an unaffected pregnancy outcome. A redraw was chosen by 171 women, which yielded a result in 75.4% and their pregnancy outcomes were unaffected; 42 women had an uninformative result again and received an amniocentesis. As 158 women had an amniocentesis after the first sampling, this procedure was offered in 200 cases altogether. Abnormal genetic testing results were shown in six (3%, 6/200) cases, all in the high-risk group. Conclusions High-risk pregnant women with cell-free DNA test failure are at increased risk of adverse pregnancy outcomes. A second sampling for cell-free DNA test or maternal serum screening might be suggested to low-risk women. Invasive prenatal diagnosis should be offered to the high-risk patients, especially those with a second cell-free DNA test failure.

The value of the first trimester ultrasound in the era of cell free DNA screening

2016 ◽  
Vol 36 (13) ◽  
pp. 1192-1198 ◽  
Author(s):  
Rashmi R. Rao ◽  
Stephanie G. Valderramos ◽  
Neil S. Silverman ◽  
Christina S. Han ◽  
Lawrence D. Platt
Keyword(s):  
First Trimester ◽  
Cell Free Dna ◽  
Free Dna ◽  
First Trimester Ultrasound

scholarly journals Cell-Free DNA in the Investigation of Miscarriage

2020 ◽  
Vol 9 (11) ◽  
pp. 3428
Author(s):  
Emily Colley ◽  
Adam J. Devall ◽  
Helen Williams ◽  
Susan Hamilton ◽  
Paul Smith ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Blood ◽  
Tissue Cell ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Genome Wide ◽  
Prenatal Test ◽  
Fetal Fraction

Approximately one in four pregnancies result in pregnancy loss, and ~50% of these miscarriages are caused by chromosomal abnormalities. Genetic investigations are recommended after three consecutive miscarriages on products of conception (POC) tissue. Cell-free DNA (cfDNA) has been utilised for prenatal screening, but very little work has been carried out in nonviable pregnancies. We investigated the use of cfDNA from maternal blood to identify chromosomal abnormalities in miscarriage. One hundred and two blood samples from women experiencing a first trimester miscarriage were collected and stored. The mean gestational age was 7.1 weeks (range: 5–11 weeks). In this research, samples without a genetic test result from POC were not analysed. CfDNA was extracted and analysed using a modified commercial genome-wide non-invasive prenatal test. No results were provided to the patient. In 57 samples, cytogenetic results from POC analysis were available. Chromosomal abnormalities were identified in 47% (27/57) of POC analyses, and cfDNA analysis correctly identified 59% (16/27) of these. In total, 75% (43/57) of results were correctly identified. The average cfDNA fetal fraction was 6% (2–19%). In conclusion, cfDNA can be used to detect chromosomal abnormalities in miscarriages where the ‘fetal fraction’ is high enough; however, more studies are required to identify variables that can affect the overall results.

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