Literature DB >> 25343090

The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.

Dong Wu1, Qiaofang Hou1, Tao Li1, Yan Chu1, Qiannan Guo1, Bing Kang1, Shixiu Liao1.   

Abstract

Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.

Entities:  

Keywords:  Cell-free fetal DNA (cffDNA); Duchenne muscular dystrophy (DMD); fetal sex determination; non-invasive prenatal diagnostic (NIPD)

Year:  2012        PMID： 25343090      PMCID： PMC4204568          DOI： 10.5582/irdr.2012.v1.4.157

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN： 2186-3644


  18 in total

1.  Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR.

Authors:  Aggeliki Kolialexi; Georgia Tounta; Paraskevi Apostolou; Christina Vrettou; Nikos Papantoniou; Emmanuel Kanavakis; Aris Antsaklis; Ariadni Mavrou
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2012-01-17       Impact factor: 2.435

2.  Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18.

Authors:  Ghalia Ashoor; Argyro Syngelaki; Marion Wagner; Cahit Birdir; Kypros H Nicolaides
Journal:  Am J Obstet Gynecol       Date:  2012-01-24       Impact factor: 8.661

3.  Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

Authors:  Kiyonori Miura; Ai Higashijima; Takako Shimada; Shoko Miura; Kentaro Yamasaki; Shuhei Abe; Ozora Jo; Akira Kinoshita; Atsushi Yoshida; Shuichiro Yoshimura; Norio Niikawa; Koh-ichiro Yoshiura; Hideaki Masuzaki
Journal:  J Hum Genet       Date:  2011-02-10       Impact factor: 3.172

Review 4.  Cell-free nucleic acids as potential markers for preeclampsia.

Authors:  S Hahn; C Rusterholz; I Hösli; O Lapaire
Journal:  Placenta       Date:  2011-02       Impact factor: 3.481

5.  Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

Authors:  Y M Lo; M S Tein; T K Lau; C J Haines; T N Leung; P M Poon; J S Wainscoat; P J Johnson; A M Chang; N M Hjelm
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  Non-invasive prenatal determination of fetal gender using QF-PCR analysis of cell-free fetal DNA in maternal plasma.

Authors:  Shin Young Kim; Ji Hyae Lim; So Yeon Park; Moon Young Kim; June Seek Choi; Hyun Mee Ryu
Journal:  Clin Chim Acta       Date:  2011-12-13       Impact factor: 3.786

Review 7.  The muscular dystrophies.

Authors:  Alan E H Emery
Journal:  Lancet       Date:  2002-02-23       Impact factor: 79.321

8.  Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.

Authors:  Prashant K Verma; Ashwin Dalal; Balraj Mittal; Shubha R Phadke
Journal:  Indian J Hum Genet       Date:  2012-01

9.  DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Authors:  Glenn E Palomaki; Cosmin Deciu; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Louis M Neveux; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Wayne W Grody; Stanley F Nelson; Jacob A Canick
Journal:  Genet Med       Date:  2012-02-02       Impact factor: 8.822

10.  Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2012-05-10       Impact factor: 3.050
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  2 in total

1.  Successful early fetal sex determination using cell-free fetal DNA isolated from maternal capillary blood: A pilot study.

Authors:  Nadiya Kazachkova; Julia Gontar; Oleg Verlinsky; Igor Ilyin
Journal:  Eur J Obstet Gynecol Reprod Biol X       Date:  2019-05-07

2.  Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.

Authors:  Adalgisa Pietropolli; Maria Vittoria Capogna; Raffaella Cascella; Chiara Germani; Valentina Bruno; Claudia Strafella; Simona Sarta; Carlo Ticconi; Giusy Marmo; Sara Gallaro; Giuliana Longo; Luigi Tonino Marsella; Antonio Novelli; Giuseppe Novelli; Emilio Piccione; Emiliano Giardina
Journal:  Hum Genomics       Date:  2016-04-04       Impact factor: 4.639
  2 in total

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