scholarly journals Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

2013 ◽  
Vol 56 (2) ◽  
pp. 58 ◽  
Author(s):  
Ji Hyae Lim ◽  
So Yeon Park ◽  
Hyun Mee Ryu
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Maternal Blood ◽  
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 Noninvasive Prenatal Detection of Trisomy 21 by an Epigenetic–Genetic Chromosome-Dosage Approach

2010 ◽  
Vol 56 (1) ◽  
pp. 90-98 ◽  
Author(s):  
Yu K Tong ◽  
Shengnan Jin ◽  
Rossa WK Chiu ◽  
Chunming Ding ◽  
KC Allen Chan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Markers ◽  
Blood Cells ◽  
Trisomy 21 ◽  
Maternal Blood ◽  
Maternal Plasma ◽  
Plasma Samples ◽  
Prenatal Detection ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis

Abstract Background: The use of fetal DNA in maternal plasma for noninvasive prenatal diagnosis of trisomy 21 (T21) is an actively researched area. We propose a novel method of T21 detection that combines fetal-specific epigenetic and genetic markers. Methods: We used combined bisulfite restriction analysis to search for fetal DNA markers on chromosome 21 that were differentially methylated in the placenta and maternal blood cells and confirmed any target locus with bisulfite sequencing. We then used methylation-sensitive restriction endonuclease digestion followed by microfluidics digital PCR analysis to investigate the identified marker. Chromosome-dosage analysis was performed by comparing the dosage of this epigenetic marker with that of the ZFY (zinc finger protein, Y-linked) gene on chromosome Y. Results: The putative promoter of the HLCS (holocarboxylase synthetase) gene was hypermethylated in the placenta and hypomethylated in maternal blood cells. A chromosome-dosage comparison of the hypermethylated HLCS and ZFY loci could distinguish samples of T21 and euploid placental DNA. Twenty-four maternal plasma samples from euploid pregnancies and 5 maternal plasma samples from T21 pregnancies were analyzed. All but 1 of the euploid samples were correctly classified. Conclusions: The epigenetic–genetic chromosome-dosage approach is a new method for noninvasive prenatal detection of T21. The epigenetic part of the analysis can be applied to all pregnancies. Because the genetic part of the analysis uses paternally inherited, fetal-specific genetic markers that are abundant in the genome, broad population coverage should be readily achievable. This approach has the potential to become a generally usable technique for noninvasive prenatal diagnosis.

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
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