scholarly journals Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum – preliminary results

2014 ◽  
Vol 85 (3) ◽  
Author(s):  
Grzegorz Jakiel ◽  
Anna Kucińska-Chahwan ◽  
Barbara Pawłowska ◽  
Janusz Zimowski ◽  
Diana Massalska ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Serum ◽  
Preliminary Results ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

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 Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes

2016 ◽  
Vol 34 (4) ◽  
pp. 582-585 ◽  
Author(s):  
E. De Franco ◽  
R. Caswell ◽  
J. A. L. Houghton ◽  
V. Iotova ◽  
A. T. Hattersley ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neonatal Diabetes ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Cell-free fetal DNA and non-invasive prenatal diagnosis

2009 ◽  
Vol 59 (562) ◽  
pp. e146-e148 ◽  
Author(s):  
Imran Rafi ◽  
Lyn Chitty
Keyword(s):  
Prenatal Diagnosis ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies

2009 ◽  
Vol 19 (5) ◽  
pp. 714-720 ◽  
Author(s):  
Ying Li ◽  
Gheona Altarescu ◽  
Paul Renbaum ◽  
Talia Eldar-Geva ◽  
Ephrat Levy-Lahad ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Non-invasive Prenatal Diagnosis of β-Thalassemia by Detection of the Cell-Free Fetal DNA in Maternal Circulation

2019 ◽  
Vol 23 (3) ◽  
pp. 156-167
Author(s):  
sara mahmoud ◽  
hasnaa aboalwafa ◽  
Eman Ali ◽  
Nesma Ahmed ◽  
mohamed mahmoud ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Circulation ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Applications of Cell-Free Fetal DNA in Maternal Serum

2012 ◽  
Vol 3 (2) ◽  
pp. 33-39 ◽  
Author(s):  
Saeid Ghorbian
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Late Pregnancy ◽  
Maternal Serum ◽  
Maternal Circulation ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Paternity Determination ◽  
Free Circulating Dna

ABSTRACT Cell-free fetal DNA (cffDNA) is available in the maternal circulation throughout pregnancy and can be used for noninvasive prenatal diagnosis including, determination of fetal sex, identification of specific single gene disorders, typing of fetal blood groups (RhD), paternity determination and potentially routine use for Down's syndrome (DS) testing of all pregnancies. I searched published literature on the PubMed and databases on Scopus interface systematically using keyword's cffDNA, noninvasive diagnosis, fetal DNA in the maternal serum. Reference lists from the papers were also searched. cffDNA representing only 3% of the total cell-free circulating DNA in early and rising to 12% in late pregnancy, clinical investigations has already demonstrated the potential advantage, such as improving safety, earlier diagnosis and comparative ease of testing using cffDNA technology. The discovery of cffDNA circulating in the maternal serum has opened the door to noninvasive prenatal diagnosis testing with novel clinical implications. How to cite this article Ghorbian S. Applications of Cell-Free Fetal DNA in Maternal Serum. Int J Infertility Fetal Med 2012;3(2):33-39.

An Effective Method for Detecting Y-chromosome Specific Sequences of Circulating Fetal DNA in Maternal Plasma During the First-trimester

2019 ◽  
Author(s):  
Najmeh Davoodian ◽  
Ali Kadivar ◽  
Heidar Heidari Khoie ◽  
Sima Hematian Khayat ◽  
Mahboobeh Heidari Nasirabadi
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Real Time ◽  
Y Chromosome ◽  
Maternal Plasma ◽  
Fetal Sex ◽  
Non Invasive ◽  
Fetal Dna ◽  
Fetal Gender ◽  
Cell Free Fetal Dna

Background and Aims: New advances in the use of cell-free fetal DNA (cffDNA) in maternal plasma of pregnant women has provided the possibility of applying cffDNA in prenatal diagnosis as a non-invasive method. One of the applications of prenatal diagnosis is fetal gender determination. Early prenatal determination of fetal sex is required for pregnant women at risk of X-linked and some endocrine diseases. The present study was carried out to perform an efficient polymerase chain reaction (PCR) method in order to improve sensitivity, specificity and accuracy of non-invasive fetal gender detection using fetal DNA in maternal plasma during 8th -12th weeks of pregnancy. Materials and Methods: Thirty-five pregnant women with 8 to 12 weeks of pregnancy were selected for prenatal fetal sex determination. Maternal peripheral blood was collected and cffDNA was extracted from 3-ml of maternal plasma. Two multi copy Y-chromosome-specific region (DYS and DAZ) and a single copy gene (SRY) were amplified by real-time quantitative PCR. Amplification was labeled as positive, negative, or inconclusive according to a stringent algorithm. Results: Using this method, the sensitivity and specificity of the real-time PCR assay was 100% and 93.8% for prenatal fetal sex detection, respectively. Conclusions: It is concluded that fetal sex can be determined with a high level of accuracy by our algorithm, after 8 weeks of gestation with cffDNA analysis.

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