scholarly journals PCR vs karyotype for CVS and amniocentesis—the experience at one tertiary fetal medicine unit

2021 ◽  
Author(s):  
Catherine Finnegan ◽  
Suzanne Smyth ◽  
Orla Smith ◽  
Karen Flood ◽  
Jane Dalrymple ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Pregnancy Termination ◽  
Normal Pregnancy ◽  
Screening Tests ◽  
Fetal Medicine ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Polymerase Chain ◽  
Normal Ultrasound ◽  
Fetal Karyotype

Abstract Purpose Despite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic tool for fetal genetic anomalies. Results are rapidly available with polymerase chain reaction (PCR) tests, but cases have been reported whereby initial results were not confirmed after pregnancy termination and the fetal karyotype was ultimately normal. We sought to examine the potential discordance between PCR and karyotype for fetal aneuploidy. Methods The results from all amniocentesis and CVS tests performed over a 6-year period in a large tertiary level fetal medicine unit were reviewed. The results of PCR and karyotype were recorded and discrepancies examined. Pregnancy outcomes were also recorded. Results A total of 1222 invasive tests were performed (716 amniocentesis and 506 CVS). Within the cohort having amniocentesis, 11 had discrepant results (normal QF-PCR result but with a subsequent abnormal karyotype). There was 1 case among this group which QF-PCR should have identified. Within the CVS group, 7 patients had discrepant results. All had a diploid QF-PCR and would not have been identified as abnormal by it. Conclusion PCR can be reliably used to determine aneuploidy of chromosomes 13, 18, and 21. However, in cases of sex chromosome aneuploidy, its performance is less reliable and warrants waiting for a complete karyotype. Given such discordance, we advise waiting for karyotype for all invasive tests performed in the presence of a normal ultrasound before advising a patient of a diploid QF-PCR result or potentially terminating a normal pregnancy.

Three plasma-based microRNAs as potent diagnostic biomarkers for endometrial cancer

2021 ◽  
pp. 1-12
Author(s):  
Xingchen Fan ◽  
Minmin Cao ◽  
Cheng Liu ◽  
Cheng Zhang ◽  
Chunyu Li ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Operating Characteristic ◽  
Characteristic Curve ◽  
External Validation ◽  
Diagnostic Value ◽  
Diagnostic Biomarkers ◽  
Non Invasive ◽  
Polymerase Chain ◽  
Public Datasets ◽  
Plasma Mirnas

BACKGROUND: MicroRNAs (miRNAs), with noticeable stability and unique expression pattern in plasma of patients with various diseases, are powerful non-invasive biomarkers for cancer detection including endometrial cancer (EC). OBJECTIVE: The objective of this study was to identify promising miRNA biomarkers in plasma to assist the clinical screening of EC. METHODS: A total of 93 EC and 79 normal control (NC) plasma samples were analyzed using Quantitative Real-time Polymerase Chain Reaction (qRT-PCR) in this four-stage experiment. The receiver operating characteristic curve (ROC) analysis was conducted to evaluate the diagnostic value. Additionally, the expression features of the identified miRNAs were further explored in tissues and plasma exosomes samples. RESULTS: The expression of miR-142-3p, miR-146a-5p, and miR-151a-5p was significantly overexpressed in the plasma of EC patients compared with NCs. Areas under the ROC curve of the 3-miRNA signature were 0.729, 0.751, and 0.789 for the training, testing, and external validation phases, respectively. The diagnostic performance of the identified signature proved to be stable in the three public datasets and superior to the other miRNA biomarkers in EC diagnosis. Moreover, the expression of miR-151a-5p was significantly elevated in EC plasma exosomes. CONCLUSIONS: A signature consisting of 3 plasma miRNAs was identified and showed potential for the non-invasive diagnosis of EC.

scholarly journals Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

2021 ◽  
Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Program ◽  
Informed Choice ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Societal Pressure ◽  
Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

scholarly journals CT findings of 795 COVID-19 positive cases: a multicenter study in Egypt

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Youssriah Yahia Sabri ◽  
Mohamed Mohsen Tolba Fawzi ◽  
Eman Zaki Nossair ◽  
Safaa Mohamed El-Mandooh ◽  
Amira Aly Hegazy ◽  
...  
Keyword(s):  
Virus Disease ◽  
Chest Ct ◽  
Imaging Features ◽  
Rt Pcr ◽  
Relevant Research ◽  
Non Invasive ◽  
Ct Findings ◽  
Global Pandemic ◽  
Polymerase Chain ◽  
Ct Studies

Abstract Background Corona Virus Disease 2019 (COVID-19) outbreak was officially announced as a global pandemic by the WHO on March 11th 2020. Thorough understanding of CT imaging features of COVID-19 is essential for effective patient management; rationalizing the need for relevant research. The aim of this study was to analyze the chest CT findings of patients with real-time polymerase chain reaction (RT-PCR) proved COVID-19 admitted to four Egyptian hospitals. The recently published RSNA expert consensus statement on reporting COVID-19 chest CT findings was taken into consideration. Results Normal CT “negative for COVID-19” was reported in 26.1% of our RT-PCR proved COVID-19 cases. In descending order of prevalence, imaging findings of the positive CT studies (73.9%) included GGO (69%), consolidation (49.7%), crazy paving (15.4%), and peri-lobular fibrosis (40.6%). These showed a dominantly bilateral (68.2%), peripheral (72.4%), and patchy (64.7%) distribution. Remarkably, thymic hyperplasia was identified in 14.3% of studies. According to the RSNA consensus, CT findings were classified as typical in 68.9%, indeterminate in 3.6%, and atypical in 1.4% of the evaluated CT studies. Conclusion Although COVID-19 cannot be entirely excluded by chest CT, it can be distinguished in more than two-thirds of cases; making CT a widely available, non-invasive, and rapid diagnostic tool.

Is there still a rationale for non-invasive PGT-A by analysis of cell-free DNA released by human embryos into culture medium?

2021 ◽  
Vol 36 (5) ◽  
pp. 1186-1190
Author(s):  
Raoul Orvieto ◽  
Adva Aizer ◽  
Norbert Gleicher
Keyword(s):  
Culture Media ◽  
Chromosomal Rearrangements ◽  
Primary Source ◽  
Normal Pregnancy ◽  
Early Embryo ◽  
Human Embryos ◽  
Cell Debris ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna

Abstract Human embryos utilise an array of processes to eliminate the very high prevalence of aneuploid cells in early embryo stages. Human embryo self-correction was recently demonstrated by their ability to eliminate/expel abnormal blastomeres as cell debris/fragments. A whole genome amplification study has demonstrated that 63.6% of blastocysts expelled cell debris with abnormal chromosomal rearrangements. Moreover, 55.5% of euploid blastocysts expel aneuploid debris, strongly suggesting that the primary source of cell free DNA in culture media is expelled aneuploid blastomeres and/or their fragments. Such a substantial ability to self-correct downstream from the blastocyststage, therefore, renders any chromosomal diagnosis at the blastocyststage potentially useless, and this, unfortunately, also must particularly include non-invasive PGT-A based on cell-free DNA in spent medium. High rates of false-positive diagnoses of human embryos often lead to non-use and/or disposal of embryos with entirely normal pregnancy potential. Before adopting yet another round of unvalidated PGT-A as a routine adjunct to IVF, we here present facts that deserve to be considered.

scholarly journals Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

2020 ◽  
Vol 1 (2) ◽  
Author(s):  
Rocío Cabra-Rodríguez ◽  
Guadalupe Bueno Rodríguez ◽  
Cristina Santos Rosa ◽  
Miguel Ángel Castaño López ◽  
Sonia Delgado Muñoz ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Screening Program ◽  
High Sensitivity ◽  
Maternal Blood ◽  
Screening Tests ◽  
Loss To Follow Up ◽  
Non Invasive ◽  
Second Trimester Screening ◽  
Trimester Screening

AbstractObjectivesNon-invasive prenatal screening (NIPS) is a test for the detection of major fetal chromosomal abnormalities in maternal blood during pregnancy. The purpose of this study was to assess the performance of NIPS implemented within the framework of the Screening Program for Congenital Abnormalities of the Andalusian Health System.MethodsA retrospective observational study was undertaken to determine the number of NIPS tests performed since its introduction. The number of invasive diagnostic tests done after the implementation of NIPS in the patients included in the program between March 2016 and August 2017 was also quantified.ResultsA total of 6,258 combined first- and second trimester screening tests were performed, covering 95% of the population. In total, 250 subjects were identified as high risk, of whom 200 underwent NIPS after loss to follow-up. NIPS showed a sensitivity of 100% (95% CI: 76.84–100%) and a specificity of 99.46% (95% CI: 97.04–99.99%).ConclusionsThis test has proven to have a very high sensitivity and specificity. The results obtained demonstrate that the incorporation of NIPS in clinical practice minimizes the rate of miscarriages and reduces the frequency of invasive procedures by 70%.

Non-invasive Prenatal Screening for Fetal Aneuploidy: Comparison with Cytogenetic Results

2015 ◽  
Vol 3 (3) ◽  
pp. 127-136
Author(s):  
Jeanne M. Meck ◽  
Girish V. Putcha ◽  
Athena M. Cherry
Keyword(s):  
Prenatal Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy
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