scholarly journals New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

2011 ◽  
Vol 37 (3) ◽  
pp. 283-289 ◽  
Author(s):  
L. S. Chitty ◽  
D. R. Griffin ◽  
C. Meaney ◽  
A. Barrett ◽  
A. Khalil ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Non Invasive ◽  
Dysmorphic Features ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Fetal Size

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

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.

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 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.

scholarly journals Non-Invasive Prenatal RHD Genotyping Using Cell-Free Fetal DNA from Maternal Plasma: An Italian Experience

2014 ◽  
Vol 42 (1) ◽  
pp. 22-28 ◽  
Author(s):  
Elena Picchiassi ◽  
Gian Carlo Di Renzo ◽  
Federica Tarquini ◽  
Vittorio Bini ◽  
Michela Centra ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Non Invasive ◽  
Fetal Dna ◽  
Italian Experience ◽  
Cell Free Fetal Dna

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
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