Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art

2010 ◽  
Vol 10 (2) ◽  
pp. 197-205 ◽  
Author(s):  
Ana Bustamante-Aragones ◽  
Cristina Gonzalez-Gonzalez ◽  
Marta Rodriguez de Alba ◽  
Eva Ainse ◽  
Carmen Ramos
Keyword(s):  
Prenatal Diagnosis ◽  
State Of The Art ◽  
Maternal Blood ◽  
Noninvasive Prenatal Diagnosis

Enrichment of NRBC in maternal blood: a more feasible method for noninvasive prenatal diagnosis

2006 ◽  
Vol 26 (6) ◽  
pp. 545-547 ◽  
Author(s):  
Yuditiya Purwosunu ◽  
Akihiko Sekizawa ◽  
Antonio Farina ◽  
Takashi Okai ◽  
Haruo Takabayashi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Feasible Method ◽  
Noninvasive Prenatal Diagnosis

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 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.

618: Accuracy of noninvasive prenatal diagnosis of fetal single gene disorders from maternal blood

2008 ◽  
Vol 199 (6) ◽  
pp. S178
Author(s):  
Janet Ober-Berman ◽  
Yali Xiong ◽  
Carla Wagner ◽  
Stacey Jeronis ◽  
Ossie Geifman-Holtzman
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Maternal Blood ◽  
Noninvasive Prenatal Diagnosis ◽  
Single Gene Disorders

Noninvasive prenatal diagnosis of β-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

2007 ◽  
Vol 27 (13) ◽  
pp. 1228-1232 ◽  
Author(s):  
A. Kolialexi ◽  
C. Vrettou ◽  
J. Traeger-Synodinos ◽  
R. Burgemeister ◽  
N. Papantoniou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Clinical Potential for Noninvasive Prenatal Diagnosis Through Detection of Fetal Cells in Maternal Blood

2006 ◽  
Vol 45 (1) ◽  
pp. 10-20 ◽  
Author(s):  
Yuditiya Purwosunu ◽  
Akihiko Sekizawa ◽  
Keiko Koide ◽  
Shiho Okazaki ◽  
Antonio Farina ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Fetal Cells ◽  
Noninvasive Prenatal Diagnosis ◽  
Clinical Potential
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