scholarly journals Is cervical swab an efficient method for developing a new non-invasive prenatal diagnostic test for numerical and structural chromosome anomalies?

2021 ◽  
Keyword(s):  
Diagnostic Test ◽  
Efficient Method ◽  
Chromosome Anomalies ◽  
Non Invasive ◽  
Cervical Swab ◽  
Prenatal Diagnostic ◽  
Structural Chromosome

scholarly journals Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

2021 ◽  
Author(s):  
Thierry Nouspikel ◽  
Jean‐Louis Blouin ◽  
Jardena Puder ◽  
Bettina Köhler Ballan ◽  
Valerie M. Schwitzgebel
Keyword(s):  
Precision Medicine ◽  
Diagnostic Test ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Glucokinase Mutations

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.

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.

BIOBOARD

2015 ◽  
Vol 19 (07) ◽  
pp. 28-37
Keyword(s):  
United States ◽  
Progressive Multiple Sclerosis ◽  
Phase Iii ◽  
Pivotal Phase ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Test Version ◽  
Diagnostic Technology ◽  
Phase Iii Study ◽  
Technology Upgrade

AUSTRALASIA – Mighty River Honey: Saving the Bee Through Social Enterprise SINGAPORE – A*STAR’S IME AND INEX Innovations Exchange to Develop Non-invasive Prenatal Diagnostic Technology SINGAPORE – CellResearch Corporation receives new US patent approval for exclusive stem cell technology amidst new partnerships SINGAPORE – A Gel That Can Make Drugs Last Longer JAPAN – Japanese Biotech JCR Pharmaceuticals Selects Medidata’s Cloud-Based Platform to Power Rare Disease Clinical Research in Japan PARIS – MedDay Reports Additional Positive Data of its Pivotal Phase III Study With MD1003 in Patients with Progressive Multiple Sclerosis GERMANY – Merck Serono Introduces New Eeva Test Version Aiming for Optimized Assisted Reproductive Outcomes AFRICA – Ebola Genome Insights Indicate that Containment Worked UNITED STATES – TissueGene, Inc. Announces FDA Acceptance Of Invossa™ As Proprietary Name For TissueGene-C UNITED STATES – FDA Approves Technology Upgrade for Recipients of First Commercially Available Cochlear Implant

Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report

2020 ◽  
Author(s):  
Evren GUMUS
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Turner Syndrome ◽  
Rare Variants ◽  
Chromosomal Anomalies ◽  
Phenotypic Characteristics ◽  
Phenotypic Effect ◽  
Chromosome Anomalies ◽  
Structural Chromosome

In the present paper, we report two rare cases of Down syndrome (DS); mosaic Down-Turner syndrome and DS with rob (13;14). Patient 1 karyotype is mos 45,X[41] / 47, XX,+21[59] and patient 2 karyotype is 46, XY, rob (13;14)(q10;q10),+21. With these two unusual cases, we aimed to look at the most common numerical and structural chromosome anomalies from a different window and evaluate the phenotypic effect in the presence of different chromosomal anomalies. Our main goal is to evaluate the phenotypic characteristics of these two rare variants in the light of literature.

Sign in / Sign up

Export Citation Format

Share Document