scholarly journals VP30.05: The utility of maternal plasma cell‐free fetal DNA screening in prenatal diagnosis of 22q11.2 microdeletion syndrome

2020 ◽  
Vol 56 (S1) ◽  
pp. 185-186
Author(s):  
K. Law ◽  
Y. Ting
Keyword(s):  
Prenatal Diagnosis ◽  
Plasma Cell ◽  
Maternal Plasma ◽  
Microdeletion Syndrome ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
22Q11.2 Microdeletion

scholarly journals Microsystem for Isolation of Fetal DNA from Maternal Plasma by Preparative Size Separation

2009 ◽  
Vol 55 (12) ◽  
pp. 2144-2152 ◽  
Author(s):  
Thomas Hahn ◽  
Klaus S Drese ◽  
Ciara K O'Sullivan
Keyword(s):  
Prenatal Diagnosis ◽  
High Volume ◽  
Maternal Plasma ◽  
Chromosomal Anomalies ◽  
Size Separation ◽  
Large Samples ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Abstract Background: Routine prenatal diagnosis of chromosomal anomalies is based on invasive procedures, which carry a risk of approximately 1%–2% for loss of pregnancy. An alternative to these inherently invasive techniques is to isolate fetal DNA circulating in the pregnant mother’s plasma. Free fetal DNA circulates in maternal plasma primarily as fragments of lengths <500 bp, with a majority being <300 bp. Separating these fragments by size facilitates an increase in the ratio of fetal to maternal DNA. Methods: We describe our development of a microsystem for the enrichment and isolation of cell-free fetal DNA from maternal plasma. The first step involves a high-volume extraction from large samples of maternal plasma. The resulting 80-μL eluate is introduced into a polymeric microsystem within which DNA is trapped and preconcentrated. This step is followed by a transient isotachophoresis step in which the sample stacks within a neighboring channel for subsequent size separation and is recovered via an outlet at the end of the channel. Results: Recovered fractions of fetal DNA were concentrated 4–8 times over those in preconcentration samples. With plasma samples from pregnant women, we detected the fetal SRY gene (sex determining region Y) exclusively in the fragment fraction of <500 bp, whereas a LEP gene (leptin) fragment was detected in both the shorter and longer recovery fractions. Conclusions: The microdevice we have described has the potential to open new perspectives in noninvasive prenatal diagnosis by facilitating the isolation of fetal DNA from maternal plasma in an integrated, inexpensive, and easy-to-use microsystem.

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 Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations

2006 ◽  
Vol 52 (12) ◽  
pp. 2194-2202 ◽  
Author(s):  
Yu K Tong ◽  
Chunming Ding ◽  
Rossa WK Chiu ◽  
Ageliki Gerovassili ◽  
Stephen SC Chim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Trisomy 18 ◽  
Ratio Analysis ◽  
Dna Mixtures ◽  
Allelic Ratio ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Chromosomal Aneuploidies

Abstract Background: The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma. Methods: Placental-derived fetal-specific unmethylated maspin (SERPINB5) promoter sequences on human chromosome 18 were detectable in placental–maternal DNA mixtures and in maternal plasma by bisulfite modification followed by methylation-specific PCR (MSP) and primer extension. The ratios between the extension products of the 2 alleles were calculated for heterozygous placentas, placental–maternal blood cell DNA mixtures, and maternal plasma samples. The allelic ratios were compared between pregnancies carrying trisomy 18 and euploid fetuses. Results: The epigenetic allelic ratios of all tested trisomy 18 samples deviated from the reference range obtained from euploid samples (placental DNA, 1.135 to 2.052; placental–maternal DNA mixtures, 1.170 to 1.985; maternal plasma, 0.330 to 3.044; without skew correction on the raw mass spectrometric data). A theoretical model was established and validated that predicted that a minimum of 200 copies of genomic DNA after bisulfite conversion were required for distinguishing euploid and aneuploid fetuses with confidence. Conclusion: Epigenetic allelic ratio analysis of maternal plasma DNA represents a promising approach for noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.

scholarly journals Recent Advances in Fetal Nucleic Acids in Maternal Plasma

2005 ◽  
Vol 53 (3) ◽  
pp. 293-296 ◽  
Author(s):  
Y.M. Dennis Lo
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Thalassemia Major ◽  
Maternal Plasma ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Circulating Fetal Dna ◽  
Circulating Rna ◽  
Near Future

The discovery of cell-free fetal DNA in maternal plasma in 1997 has opened up new possibilities for noninvasive prenatal diagnosis. Circulating fetal DNA molecules have been detected in maternal plasma from the first trimester onwards and can be robustly detected using a variety of molecular methods. This approach has been used for the prenatal investigation of sex-linked diseases, fetal RhD status, and prenatal exclusion of β-thalassemia major. Recently, fetal RNA has also been found in maternal plasma. Such fetal RNA has been shown to originate from the placenta and to be remarkably stable. The use of microarray-based approaches has made it feasible to rapidly generate new circulating RNA markers. It is hoped that further developments in this field will make the routine and widespread practice of noninvasive nucleic acid-based prenatal diagnosis for common pregnancy-associated disorders feasible in the near future.

First-trimester maternal plasma cell-free fetal DNA and preeclampsia

2009 ◽  
Vol 201 (5) ◽  
pp. 472.e1-472.e7 ◽  
Author(s):  
Stavros Sifakis ◽  
Apostolos Zaravinos ◽  
Nerea Maiz ◽  
Demetrios A. Spandidos ◽  
Kypros H. Nicolaides
Keyword(s):  
Plasma Cell ◽  
First Trimester ◽  
Maternal Plasma ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Placental volume, as measured by 3-dimensional sonography and levels of maternal plasma cell-free fetal DNA

2005 ◽  
Vol 193 (2) ◽  
pp. 496-500 ◽  
Author(s):  
Tuangsit Wataganara ◽  
Martin Metzenbauer ◽  
Inga Peter ◽  
Kirby L. Johnson ◽  
Diana W. Bianchi
Keyword(s):  
Plasma Cell ◽  
Maternal Plasma ◽  
3 Dimensional ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Placental Volume

scholarly journals Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

2014 ◽  
Vol 99 (6) ◽  
pp. E1022-E1030 ◽  
Author(s):  
Maria I. New ◽  
Yu K. Tong ◽  
Tony Yuen ◽  
Peiyong Jiang ◽  
Christian Pina ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Maternal Plasma ◽  
Adrenal Hyperplasia ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna

scholarly journals Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis

ISRN Genetics ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-10
Author(s):  
Monisha Banerjee ◽  
Deepika Misra
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Quantitative Polymerase Chain Reaction ◽  
Maternal Blood ◽  
Maternal Plasma ◽  
Current Status ◽  
Screening Methods ◽  
Maternal Circulation ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Invasive prenatal diagnosis (PND) holds a multitude of psychological considerations for women, their partners, family and community as a whole. Earlier, the non-invasive screening methods for certain disorders were serum analytes or ultrasound with low sensitivity and high false positivity. The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive PND (NIPD). Presence of fetal cells and cell-free fetal DNA (cffDNA) in the blood of pregnant women has been accepted universally and constant efforts are being made to enrich fetal DNA from maternal blood/plasma. Real-time quantitative polymerase chain reaction (qrt-PCR) has enabled fetal DNA to serve as a marker for chromosomal abnormalities, for example, trisomy 21, preterm labor, and preeclampsia. In India, PND is provided in few centers since invasive methods require trained gynecologists, this limits investigation and therefore NIPD with cffDNA from mother's blood will revolutionize fetal medicine. The present paper deals with the latest developments in procurement of cffDNA, the probable source and enrichment of fetal DNA in maternal plasma, and the current status of its detection methodologies, applications, and its potential to be used as a powerful diagnostic tool.

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