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.

scholarly journals Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis

2006 ◽  
Vol 14 (6) ◽  
pp. 964-967 ◽  
Author(s):  
Ester Silveira Ramos
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Sex Selection ◽  
Maternal Circulation ◽  
Fetal Sex ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
New Methodologies ◽  
Selection For ◽  
Early Abortion

The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.

Gender Determination by Isolation of Cell-free Fetal DNA from the Maternal Circulation

2016 ◽  
Vol 8 (1) ◽  
pp. 29-32
Author(s):  
Nuruddin Mohammed ◽  
Rozina Nuruddin ◽  
Zahra Hoodbhoy
Keyword(s):  
Real Time ◽  
Deoxyribonucleic Acid ◽  
Quantitative Polymerase Chain Reaction ◽  
Maternal Plasma ◽  
Maternal Circulation ◽  
Gender Determination ◽  
Fetal Dna ◽  
Fetal Gender ◽  
Negative Case ◽  
Cell Free Fetal Dna

ABSTRACT Objectives Early identification of fetal gender is important in management of X-linked and other metabolic disorders. Since ultrasound may not predict gender accurately during the first trimester, noninvasive fetal gender determination using deoxyribonucleic acid (DNA) amplification has been proposed. The aim of this study is to evaluate the feasibility of noninvasive prenatal gender determination by examining cell-free fetal DNA (cffDNA) from maternal plasma. Materials and methods Blood samples were collected from 49 pregnant women of gestational ages ranging from 12 to 41 weeks. Deoxyribonucleic acid was extracted from maternal plasma using a QIAamp DNA Blood Mini Kit. Real-time quantitative polymerase chain reaction (PCR) was performed to amplify the male specific DNA marker sex-determining region Y (SRY). Results From a total of 49 subjects, fetal gender was correctly determined in 13 out of 14 male fetuses and 32 out of 35 female fetuses, giving an overall accuracy of 92%. The sensitivity and specificity of the test to detect male fetuses was 93 and 91% respectively. There were three false-positive cases and one false-negative case. Conclusion Identification of fetal gender from maternal plasma using real-time PCR technique is feasible in a developing country, like Pakistan, and appears to be a promising tool for noninvasive prenatal diagnosis. How to cite this article Mohammed N, Nuruddin R, Hoodbhoy Z. Gender Determination by Isolation of Cell-free Fetal DNA from the Maternal Circulation. J South Asian Feder Obst Gynae 2016;8(1):29-32.

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 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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