scholarly journals Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies

2012 ◽  
Vol 153 (43) ◽  
pp. 1687-1691
Author(s):  
Levente Lázár ◽  
Gyula Richárd Nagy ◽  
János Rigó jr. ◽  
Bálint Nagy
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Loss ◽  
Screening Methods ◽  
Clinical Implementation ◽  
Ribonucleic Acids ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Fetal Aneuploidies ◽  
Digital Polymerase Chain Reaction ◽  
Real Chance

Prenatal detection of fetal aneuploidies is one of the main goals of the prenatal diagnostic approach. As a benefit of the development of advanced ultrasound equipment and advances in molecular biology in the last decade, there is a significant progress in screening methods for fetal aneuploidies, although invasive methods remain the gold standard for aneuploidy detection. Non-invasive prenatal diagnosis has substantial medical impact as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Identification of fetal-specific messenger ribonucleic acids, digital polymerase chain reaction and next-generation sequencing give the real chance for non-invasive prenatal diagnosis of fetal aneuploidies. Although all these methods have both advantages and limitations, some of them are moving closer to clinical implementation. In this review the authors highlight the most recent advances in methods for non-invasive prenatal diagnosis of aneuploidies. Orv. Hetil., 2012, 153, 1687–1691.

scholarly journals Biomarker development for non-invasive prenatal diagnosis of fetal aneuploidies: predictive reliability and potential clinical application

2011 ◽  
Vol 2 (2) ◽  
pp. 157-161
Author(s):  
Aggeliki Kolialexi ◽  
Athanasios K. Anagnostopoulos ◽  
Georgia Tounta ◽  
Aris Antsaklis ◽  
Ariadni Mavrou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Application ◽  
Non Invasive ◽  
Potential Clinical Application ◽  
Fetal Aneuploidies

Non-invasive prenatal diagnosis of fetal aneuploidies

The Lancet ◽  
2007 ◽  
Vol 369 (9560) ◽  
pp. 440-442 ◽  
Author(s):  
Alexandra Benachi ◽  
Jean-Marc Costa
Keyword(s):  
Prenatal Diagnosis ◽  
Non Invasive ◽  
Fetal Aneuploidies

scholarly journals Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2239
Author(s):  
Giulia Sabbatinelli ◽  
Donatella Fantasia ◽  
Chiara Palka ◽  
Elisena Morizio ◽  
Melissa Alfonsi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Efficiency ◽  
Diagnostic Testing ◽  
Genetic Research ◽  
Clinical Genetics ◽  
Maternal Circulation ◽  
Fetal Cells ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Maternal Peripheral Blood

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.

scholarly journals The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

2013 ◽  
Vol 33 (6) ◽  
pp. 555-562 ◽  
Author(s):  
Nicholas Lench ◽  
Angela Barrett ◽  
Sarah Fielding ◽  
Fiona McKay ◽  
Melissa Hill ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Clinical Implementation ◽  
Non Invasive ◽  
Single Gene Disorders

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

scholarly journals Fetal microchimerism and prenatal diagnostic of genetic disorders

2016 ◽  
Vol 4 (1) ◽  
pp. 124-131
Author(s):  
T. Lutsenko
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disorders ◽  
Genetic Material ◽  
Early Embryogenesis ◽  
Chorionic Villi ◽  
Fetal Cells ◽  
Non Invasive ◽  
Potential Source ◽  
Prenatal Diagnostic ◽  
Fetal Microchimerism

It is often require an invasive diagnosis based on karyotyping of cells from amniotic fluid, chorionic villi and cord blood in case of the fetus pathologies during pregnancy. The performance of these procedures has a risk of pregnancy complications or procedure-induced miscarriage. Therefore the investigators have nowadays been developing several approaches which would be capable to replace invasive diagnosis by alternative and safe non-invasive methods for detection of possible pregnancy pathology. Fetal microchimerism phenomenon and reliable strategies of fetal cells enrichment during early embryogenesis are reviewed. Fetal cells circulating in the peripheral blood of pregnant women has been described as a potential source of fetus genetic material in non-invasive prenatal diagnosis for chromosomal aberrations.

scholarly journals Prenatal Invasive Testing: A 4-Years Single Institution Experience in Turkey

2016 ◽  
Vol 21 (3) ◽  
Author(s):  
Emre Ekmekçi ◽  
Kutlu Kurt ◽  
Servet Gençdal ◽  
Emine Demirel ◽  
Sefa Kelekçi
Keyword(s):  
Prenatal Diagnosis ◽  
Invasive Procedures ◽  
Single Institution ◽  
Abnormal Karyotype ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Ultrasound Findings ◽  
Demographic Distribution ◽  
Fetal Karyotype

<p><strong>OBJECTIVE:</strong> Evaluation of indications, methods and results of prenatal diagnostic invasive procedures performed in our clinic in a four-year process and interpretation of relations between them.</p><p><strong>STUDY DESIGN:</strong> In this study 553 patients were examined retrospectively, who were undergone prenatal invasive procedures in our clinic for determination of fetal karyotype. Demographic distribution of the patients, indications for tests and results were examined, complications were evaluated depending on the procedure.</p><p><strong>RESULTS:</strong> A total of 41 abnormal karyotype pregnancies detected, the most common abnormal karyotype was trisomy 21 and most of abnormal karyotypes were detected in patients who undergone invasive diagnostic tests due to abnormal ultrasound findings. Abortion is resulted at two patients.</p><p><strong>CONCLUSION:</strong> Although non-invasive prenatal diagnosis is more accessible today and has become more preferable, prenatal invasive diagnosing still remains its importance in prenatal diagnosis. Especially in the cases with presence of abnormal ultrasound findings, invasive prenatal diagnosis should be the primary diagnostic method.</p>

Non-Invasive Distinction of Non-Alcoholic Fatty Liver Disease using Urinary Volatile Organic Compound Analysis: Early Results

2015 ◽  
Vol 24 (2) ◽  
pp. 197-201 ◽  
Author(s):  
Ramesh P. Arasaradnam ◽  
Michael McFarlane ◽  
Emma Daulton ◽  
Erik Westenbrink ◽  
Nicola O’Connell ◽  
...  
Keyword(s):  
Liver Disease ◽  
Pilot Study ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Diagnostic Methods ◽  
Screening Methods ◽  
Alcoholic Fatty Liver ◽  
Non Invasive ◽  
Volatile Organic ◽  
Alcoholic Fatty Liver Disease

Background & Aims: Non-Alcoholic Fatty Liver Disease (NAFLD) is the commonest cause of chronic liver disease in the western world. Current diagnostic methods including Fibroscan have limitations, thus there is a need for more robust non-invasive screening methods. The gut microbiome is altered in several gastrointestinal and hepatic disorders resulting in altered, unique gut fermentation patterns, detectable by analysis of volatile organic compounds (VOCs) in urine, breath and faeces. We performed a proof of principle pilot study to determine if progressive fatty liver disease produced an altered urinary VOC pattern; specifically NAFLD and Non-Alcoholic Steatohepatitis (NASH).Methods: 34 patients were recruited: 8 NASH cirrhotics (NASH-C); 7 non-cirrhotic NASH; 4 NAFLD and 15 controls. Urine was collected and stored frozen. For assay, the samples were defrosted and aliquoted into vials, which were heated to 40±0.1°C and the headspace analyzed by FAIMS (Field Asymmetric Ion Mobility Spectroscopy). A previously used data processing pipeline employing a Random Forrest classification algorithm and using a 10 fold cross validation method was applied.Results: Urinary VOC results demonstrated sensitivity of 0.58 (0.33 - 0.88), but specificity of 0.93 (0.68 - 1.00) and an Area Under Curve (AUC) 0.73 (0.55 -0.90) to distinguish between liver disease and controls. However, NASH/NASH-C was separated from the NAFLD/controls with a sensitivity of 0.73 (0.45 - 0.92), specificity of 0.79 (0.54 - 0.94) and AUC of 0.79 (0.64 - 0.95), respectively.Conclusions: This pilot study suggests that urinary VOCs detection may offer the potential for early non-invasive characterisation of liver disease using 'smell prints' to distinguish between NASH and NAFLD.

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