Literature DB >> 17152117

Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?

Ageliki Gerovassili1, Chad Garner, Kypros H Nicolaides, Swee Lay Thein, David C Rees.   

Abstract

OBJECTIVES: Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other variables and to clarify their diagnostic value.
METHODS: DNA from pre-CVS maternal plasma was extracted from 264 controls, 72 trisomy 21, 24 trisomy 18, 12 trisomy 13, 16 Turner's syndrome and 8 triploidy first-trimester pregnancies and quantified using real-time PCR. beta-globin was used to determine total cfDNA levels and DYS14 and SRY assays to determine fetal cfDNA levels.
RESULTS: Fetal cfDNA levels (DYS14) showed correlation with crown rump length (CRL) (p = 0.004), BMI (p = 0.01) and storage time (p = 0.007) while there was an inverse correlation of total cfDNA levels with nuchal translucency (NT) (p = 0.001). No significant difference was observed between the levels of fetal cfDNA in controls and aneuploidy cases.
CONCLUSION: Quantification of fetal and total cfDNA in maternal circulation showed inverse correlation between NT and total cfDNA levels. Our results also suggest that fetal cfDNA is not an ideal prognostic marker for chromosomal abnormalities in first-trimester pregnancies. (c) 2006 John Wiley & Sons, Ltd.

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Year:  2007        PMID: 17152117     DOI: 10.1002/pd.1607

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  8 in total

Review 1.  First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

Review 2.  First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

3.  Cell-free DNA fragmentation patterns in amniotic fluid identify genetic abnormalities and changes due to storage.

Authors:  Inga Peter; Hocine Tighiouart; Olav Lapaire; Kirby L Johnson; Diana W Bianchi; Norma Terrin
Journal:  Diagn Mol Pathol       Date:  2008-09

4.  Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Authors:  R Hochstenbach; G C M L Page-Christiaens; A C C van Oppen; K D Lichtenbelt; J J T van Harssel; T Brouwer; G T R Manten; P van Zon; M Elferink; K Kusters; O Akkermans; J K Ploos van Amstel; G H Schuring-Blom
Journal:  Case Rep Genet       Date:  2015-06-07

Review 5.  First trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2015-11-30

6.  Plasma cell-free DNA in paediatric lymphomas.

Authors:  Lara Mussolin; Roberta Burnelli; Marta Pillon; Elisa Carraro; Piero Farruggia; Alessandra Todesco; Maurizio Mascarin; Angelo Rosolen
Journal:  J Cancer       Date:  2013-04-16       Impact factor: 4.207

7.  Evaluation of sample stability and automated DNA extraction for fetal sex determination using cell-free fetal DNA in maternal plasma.

Authors:  Elena Ordoñez; Laura Rueda; M Paz Cañadas; Carme Fuster; Vincenzo Cirigliano
Journal:  Biomed Res Int       Date:  2013-10-07       Impact factor: 3.411

Review 8.  False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.

Authors:  Diane Van Opstal; Malgorzata I Srebniak; Joke Polak; Femke de Vries; Lutgarde C P Govaerts; Marieke Joosten; Attie T J I Go; Maarten F C M Knapen; Cardi van den Berg; Karin E M Diderich; Robert-Jan H Galjaard
Journal:  PLoS One       Date:  2016-01-15       Impact factor: 3.240

  8 in total

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