scholarly journals Cell-free DNA

2020 ◽  
Author(s):  
Emily Pickering
Keyword(s):  
Genetic Screening ◽  
Genetic Disorders ◽  
Chorionic Villus ◽  
Prenatal Development ◽  
Chorionic Villus Sampling ◽  
Chromosomal Disorders ◽  
Screening Process ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Chromosomal disorders arise from errors in cell division and many are detected during prenatal development. Prenatal genomic screening techniques involve invasive methods such as chorionic villus sampling and amniocentesis. In this feature, current invasive techniques for genetic screening will be examined in relation to the development of non-invasive prenatal technology. As cell-free fetal DNA methods continue to develop and be integrated into clinical practice, there is an opportunity for improvement in the detection and reliability of the screening process. In clinic, there are disparities between clinicians and patients surrounding both understanding of the processes and the discussion on the technique limitations. Non-invasive methods are continually being improved for detecting genetic disorders through the use of cell-free fetal DNA, and with these advancements, these processes will become safe, cost-effective, and reliable for pregnant mothers when undergoing genetic screening and counselling.

scholarly journals Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 17-26 ◽  
Author(s):  
Neil D. Avent ◽  
A Webb ◽  
TE Madgett ◽  
T Miran ◽  
K Sillence ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Detection Rate ◽  
Improve Patient Safety ◽  
Chorionic Villus ◽  
Diagnostic Procedures ◽  
Chorionic Villus Sampling ◽  
Group Status ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.

scholarly journals Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

2020 ◽  
pp. 1
Author(s):  
Abhijeet Kumar ◽  
Madhusudan Dey ◽  
Devendra Arora
Keyword(s):  
Diagnostic Tests ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Maternal Serum ◽  
Chorionic Villus Sampling ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

<p>Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-invasive methods to determine the chromosome abnormality disorders in the fetus without incurring the risk of miscarriage. Conventional tools for prenatal screening included maternal age, maternal serum markers, ultrasound marker (nuchal thickness), and their combinations. With the increased risk of screening test patients were offered diagnostic tests (chorionic villus sampling, amniocentesis, and cordocentesis). After the availability of noninvasive prenatal tests for commercial use in 2011, a great marketing drive is there to establish it as a master tool for prenatal testing. However various society guidelines i.e. ACOG, RCOG, and ISUOG have clearly stated that cell-free fetal DNA based noninvasive prenatal tests is a screening test, not a diagnostic test. In the succeeding paragraph, we will review current trends in the field of cell-free fetal DNA noninvasive prenatal tests and the relevance of invasive testing in the context of noninvasive prenatal tests. Noninvasive prenatal tests does not entirely replace invasive prenatal testing procedures. Positive noninvasive prenatal tests findings must be confirmed by diagnostic tests based on an invasive sample source, mainly chorionic villus sampling or amniocentesis due to false positive and false negative reports of cell-free fetal DNA based tests. Continuing research and development efforts are focused on overriding noninvasive prenatal tests limitations. Recent studies show that procedure-associated risks in the case of prenatal invasive testing are very low as compared to previous studies. Prenatal invasive testing will remain as the backbone of prenatal diagnostic testing until the limitation of noninvasive prenatal tests is overcome.</p>

scholarly journals Recent advances in prenatal genetic screening and testing

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2591 ◽  
Author(s):  
Ignatia B. Van den Veyver
Keyword(s):  
New Technologies ◽  
Single Gene ◽  
Chorionic Villus ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chorionic Villus Sampling ◽  
Non Invasive ◽  
Single Gene Disorders ◽  
Whole Exome ◽  
Cell Free Fetal Dna

The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

scholarly journals Potential Use of Cell Free Fetal DNA at 13 Short Tandem Repeats Loci for Noninvasive Prenatal Paternity Test

2021 ◽  
Vol 01 (04) ◽  
Author(s):  
Citra Manela ◽  
Keyword(s):  
Tandem Repeats ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Inform Consent ◽  
Biological Father ◽  
Amelogenin Gene ◽  
Paternity Test ◽  
Str Loci ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Background : Prenatal paternity test is mostly performed by using Amniocentesis or Chorionic Villus Sampling (CVS) methods. However, these methods require invasive procedures, which are potentially harmful for both the mother and the fetus. Currently, the invention of of Cell-Free Fetal DNA (cffDNA) has offered the opportunity of performing prenatal paternity test non-invasively. Materials and Methods : This study is a cross sectional descriptive study to detect cell free fetal DNA at 13 STR loci and at amelogenin gene to evaluate fetus gender, which will be compared to the baby gender afterbirth. Healthy third semester pregnant women were included as participants. Inform consent for both the mother and the biological father has been provided. Result : Four participants has been evaluated. In this study, in all participants, we found the presence of cffDNA in almost all of the STR loci. Some loci cannot be detected due to the small amount of cffDNA in the loci. All fetus genders detected by cffDNA in the amelogenin gene macthed the gender of the four babies afterbirth. Conclusion : The use of Cell-Free Fetal DNA (cffDNA) is a potential non-invasive methods in prenatal paternity test. Additionally, the ability of the method to evaluate fetus gender has been suggested.

575: Cell free fetal DNA in maternal circulation after chorionic villus sampling

2007 ◽  
Vol 197 (6) ◽  
pp. S166
Author(s):  
Neeta L. Vora ◽  
Kirby L. Johnson ◽  
Inga Peter ◽  
Steven Ralston ◽  
Sabrina D. Craigo ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Maternal Circulation ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Diagnostic Value of Non-Invasive Prenatal Screening of β-thalassemia by Cell Free Fetal DNA and Fetal NRBC

2019 ◽  
Vol 19 (2) ◽  
pp. 105-111
Author(s):  
Nadia Shafei ◽  
Mohammad Saeed Hakhamaneshi ◽  
Massoud Houshmand ◽  
Siavash Gerayeshnejad ◽  
Fardin Fathi ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Multiple Displacement Amplification ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Beta Thalassemia ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

2021 ◽  
Vol 70 (1) ◽  
pp. 19-50
Author(s):  
Elena A. Kalashnikova ◽  
Andrey S. Glotov ◽  
Elena N. Andreyeva ◽  
Ilya Yu. Barkov ◽  
Galina Yu. Bobrovnik ◽  
...  
Keyword(s):  
Mass Screening ◽  
Russian Federation ◽  
Prenatal Screening ◽  
First Trimester ◽  
Screening Programs ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
The Russian Federation

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

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