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.

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 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 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>

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

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 Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research

2013 ◽  
Vol 7 (4) ◽  
pp. 440-442
Author(s):  
Wolfgang Holzgreve
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Chorionic Villus ◽  
Maternal Blood ◽  
Chorionic Villus Sampling ◽  
Clinical Use ◽  
Maternal Circulation ◽  
Isolated Cells ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna

ABSTRACT Since all prenatal invasive procedures, such as amniocentesis and chorionic villus sampling carry a small risk for the pregnant woman and a risk to induce the loss of a pregnancy of up to 1%, there have been efforts now for at least a quarter of a century to develop a noninvasive method from the blood of pregnant women. First there was a considerable effort to isolate fetal cells from maternal circulation, and these techniques were carefully evaluated in a NIH-sponsored study of a few US American centers and ours in Basel/Switzerland. It turned out; however, that interphase fluorescence to identify fetal aneuploidies from these isolated cells was not reliable enough for clinical use. The breakthrough came with the recognition of the group by D Lo et al; who showed for the first time that cell-free fetal DNA in maternal plasma and serum can be used reliably for prenatal diagnosis. One of the first successful applications was the detection of the fetal Rhesus factor around 11 weeks of gestation in pregnancies of Rhesus-negative mothers. The Sequenom Company in San Diego, USA, which acquired the patent of D Lo et al on the use of cell free DNA and ours on size separation of fetal vs maternal DNA subsequently showed in large series that the noninvasive prenatal diagnosis of fetal trisomy 21 from maternal blood by massive parallel sequencing has an accuracy around 99%, and currently up to 100,000 cases have been investigated already in different laboratories. Also the noninvasive prenatal diagnosis of trisomies 18 and 13 is possible, and an increasing amount of single gene anomalies will be diagnosable in the future noninvasively. The whole development of noninvasive prenatal diagnosis is appositive example that long-term research pays-off to bring a concept from the first steps finally into clinical use. How to cite this article Holzgreve W. Noninvasive Prenatal Diagnosis from Maternal Blood: Finally Available after 20 Years of Research. Donald School J Ultrasound Obstet Gynecol 2013;7(4):440-442.

The Impact of cfDNA Screening on the Frequency of Invasive Procedures in a Geographically Diverse Private Network

2017 ◽  
Vol 34 (14) ◽  
pp. 1430-1435 ◽  
Author(s):  
C. Combs ◽  
Kimberly Maurel ◽  
Diana Abril ◽  
Anita Das ◽  
Thomas Garite ◽  
...  
Keyword(s):  
Control Period ◽  
Chorionic Villus ◽  
Geographic Area ◽  
Chorionic Villus Sampling ◽  
Test Results ◽  
Design Data ◽  
Cell Free Fetal Dna ◽  
Private Network ◽  
The Impact ◽  
Cfdna Screening

Objective Cell-free fetal DNA (cfDNA) screening has had a dramatic impact in obstetrics. We examined the impact of cfDNA screening in a network of geographically diverse referral maternal–fetal medicine (MFM) private practices. Study Design Data were derived from the genetic clinics of 16 testing centers from a wide geographic area and included all women undergoing either amniocentesis or chorionic villus sampling (CVS) during a 6-month control period versus a 30-month study period. Results During the control period, there were 193 amniocenteses and 47 CVS/month. During the last 6 months of the study, amniocenteses dropped to 52/month and CVS to 18/month. Positive aneuploid test results per procedure increased from 6.9% during the control period to 15.0% during the last 6 months of the study period. However, the overall number of aneuploidy results decreased from 16.7/month to of 10.5/month. Conclusion Our study demonstrates the dramatic changes in the era of cfDNA screening on reducing the frequency of amniocentesis and CVS associated with a higher percentage of positive results per procedure. There was an unexpected decrease in aneuploid fetuses diagnosed over the study period, which could reflect decisions regarding genetically abnormal fetuses being made without a definitive diagnostic procedure.

scholarly journals THE APPLICATION OF CELL-FREE FETAL DNA (cff-DNA) AND SIBLINGS DNA METHODS IN THE PROCESS OF PATERNITY TEST THROUGH CODIS STR LOCI (CSF1PO, THO1, TPOX, AND vWA)

2021 ◽  
Vol 16 (1) ◽  
pp. 6-12
Author(s):  
Ahmad Yudianto ◽  
Arofi Kurniawan ◽  
Toetik Koesbardiati ◽  
Achmad Faisol ◽  
Fery Setiawan ◽  
...  
Keyword(s):  
Forensic Identification ◽  
Allele Sharing ◽  
Kinship Analysis ◽  
Identification Process ◽  
Paternity Test ◽  
Non Invasive ◽  
Str Loci ◽  
Cell Free Fetal Dna ◽  
Alternative Material ◽  
Invasive Techniques

Background: The non-invasive cff-DNA and siblings DNA methods are the latest breakthroughs in the forensic identification process. The use of cff-DNA and siblings DNA as non-invasive techniques in the forensic identification process has, hitherto, not been widely proven. Methods and Materials: This was an analytic observational study. The sample of this study consisted of peripheral blood of women in the second trimester of pregnancy and their two biological children. The kinship analysis was carried out through siblings' DNA and cff-DNA from the mothers through CODIS STR loci (CSF1PO, THO1, TPOX, and vWA). Results: The means of allele sharing between full siblings in loci CSF1PO, THO1, TPOX, and vWA were 0 (13.75%), 1 (44.75%), and 2 (41.50%). The allele sharing found in the study is in line with the one in previous research conducted by Wenk (1998) and the theory proposed by O'Connor (2011), indicating that one allele sharing dominates, contrasting with the finding of previous research conducted by Sosiawan (2020) revealing that 2-allele sharing was more superior. The variation is caused by the ethnicity having a different genetic contribution among the population. The variation can be attributed to historical and demographical processes leading to genetic drift. Conclusion: The mean of SI in 1 allele sharing in CODIS STR loci (CSF1PO, THO1, TPOX, and vWA) has the highest value of 44.5%. The use of cff-DNA of pregnant women as one of the non-invasive techniques can serve as an alternative material in a paternity test.

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