Down syndrome and cell-free fetal DNA in archived maternal serum

2002 ◽  
Vol 187 (5) ◽  
pp. 1217-1221 ◽  
Author(s):  
Thomas Lee ◽  
Erik S. LeShane ◽  
Geralyn M. Messerlian ◽  
Jacob A. Canick ◽  
Antonio Farina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

22 Fetal down syndrome is associated with increased cell-free fetal DNA levels in archived maternal serum samples

2001 ◽  
Vol 185 (6) ◽  
pp. S79 ◽  
Author(s):  
Thomas Lee ◽  
Erik Leshane ◽  
Geralyn Messerlian ◽  
Jacob Canick ◽  
Marshall Carpenter ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Serum Samples ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

2003 ◽  
Vol 49 (2) ◽  
pp. 239-242 ◽  
Author(s):  
Antonio Farina ◽  
Erik S LeShane ◽  
Geralyn M Lambert-Messerlian ◽  
Jacob A Canick ◽  
Thomas Lee ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Detection Rate ◽  
False Positive Rate ◽  
Maternal Serum ◽  
Second Trimester ◽  
Fetal Dna ◽  
Screening Performance ◽  
Cell Free Fetal Dna ◽  
Positive Rate ◽  
Screening Marker

Abstract Background: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome. Methods: Data on maternal serum fetal DNA concentrations and the corresponding concentrations of the quadruple serum markers were available from 15 Down syndrome cases, each matched for gestational age and length of freezer storage, with 5 control samples. Analyte values were expressed as multiple(s) of the control or population median. Screening performance of fetal DNA, both alone and when added to estimates of quadruple marker performance, was determined after modeling using univariate and multivariate gaussian distribution analysis. Results: The median fetal DNA concentration in Down syndrome cases was 1.7 times higher than in controls. In univariate analysis, fetal DNA gave a 21% detection rate at a 5% false-positive rate. When added to quadruple marker screening, fetal DNA increased the estimated detection rate from 81% to 86% at a 5% false-positive rate. Conclusions: Cell-free fetal DNA, measured in maternal serum, can modestly increase screening performance above what is currently available in the second trimester. If and when maternal serum fetal DNA can be measured in pregnancies with both male and female fetuses, the utility and cost-effectiveness of adding it as a Down syndrome screening marker should be assessed.

scholarly journals Applications of Cell-Free Fetal DNA in Maternal Serum

2012 ◽  
Vol 3 (2) ◽  
pp. 33-39 ◽  
Author(s):  
Saeid Ghorbian
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Late Pregnancy ◽  
Maternal Serum ◽  
Maternal Circulation ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Paternity Determination ◽  
Free Circulating Dna

ABSTRACT Cell-free fetal DNA (cffDNA) is available in the maternal circulation throughout pregnancy and can be used for noninvasive prenatal diagnosis including, determination of fetal sex, identification of specific single gene disorders, typing of fetal blood groups (RhD), paternity determination and potentially routine use for Down's syndrome (DS) testing of all pregnancies. I searched published literature on the PubMed and databases on Scopus interface systematically using keyword's cffDNA, noninvasive diagnosis, fetal DNA in the maternal serum. Reference lists from the papers were also searched. cffDNA representing only 3% of the total cell-free circulating DNA in early and rising to 12% in late pregnancy, clinical investigations has already demonstrated the potential advantage, such as improving safety, earlier diagnosis and comparative ease of testing using cffDNA technology. The discovery of cffDNA circulating in the maternal serum has opened the door to noninvasive prenatal diagnosis testing with novel clinical implications. How to cite this article Ghorbian S. Applications of Cell-Free Fetal DNA in Maternal Serum. Int J Infertility Fetal Med 2012;3(2):33-39.

Fraction of cell-free fetal DNA in the maternal serum as a predictor of abnormal placental invasion-a pilot study

2013 ◽  
Vol 33 (11) ◽  
pp. 1050-1053 ◽  
Author(s):  
Amber Samuel ◽  
Clarissa Bonanno ◽  
Arnold Oliphant ◽  
Annette Batey ◽  
Jason D. Wright
Keyword(s):  
Pilot Study ◽  
Maternal Serum ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Placental Invasion

Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses

2008 ◽  
Vol 28 (5) ◽  
pp. 425-433 ◽  
Author(s):  
Radek Vodicka ◽  
Radek Vrtel ◽  
Ladislav Dusek ◽  
Martin Prochazka ◽  
Eva Schneiderova ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

2020 ◽  
Vol 9 (12) ◽  
pp. 3995
Author(s):  
Angelika Buczyńska ◽  
Iwona Sidorkiewicz ◽  
Sławomir Ławicki ◽  
Adam Krętowski ◽  
Monika Zbucka-Krętowska
Keyword(s):  
Down Syndrome ◽  
Apolipoprotein E ◽  
High Sensitivity ◽  
Control Group ◽  
Study Group ◽  
Diagnostic Efficiency ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Noninvasive Biomarker ◽  
Medical University

Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

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