Literature DB >> 26088741

Cell-free DNA screening and sex chromosome aneuploidies.

Michael T Mennuti1, Suchitra Chandrasekaran2, Nahla Khalek3, Lorraine Dugoff1.   

Abstract

Cell-free DNA (cfDNA) testing is increasingly being used to screen pregnant women for fetal aneuploidies. This technology may also identify fetal sex and can be used to screen for sex chromosome aneuploidies (SCAs). Physicians offering this screening will need to be prepared to offer comprehensive prenatal counseling about these disorders to an increasing number of patients. The purpose of this article is to consider the source of information to use for counseling, factors in parental decision-making, and the performance characteristics of cfDNA testing in screening for SCAs. Discordance between ultrasound examination and cfDNA results regarding fetal sex is also discussed.
© 2015 John Wiley & Sons, Ltd.

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Year:  2015        PMID: 26088741     DOI: 10.1002/pd.4639

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


  14 in total

1.  Genetic Counselors' Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.

Authors:  Patricia K Agatisa; Mary Beth Mercer; Marissa Coleridge; Ruth M Farrell
Journal:  J Genet Couns       Date:  2018-06-27       Impact factor: 2.537

Review 2.  Non-invasive Prenatal Testing Using Fetal DNA.

Authors:  Giulia Breveglieri; Elisabetta D'Aversa; Alessia Finotti; Monica Borgatti
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

Review 3.  Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Authors:  Mylène Badeau; Carmen Lindsay; Jonatan Blais; Leon Nshimyumukiza; Yemisi Takwoingi; Sylvie Langlois; France Légaré; Yves Giguère; Alexis F Turgeon; William Witteman; François Rousseau
Journal:  Cochrane Database Syst Rev       Date:  2017-11-10

Review 4.  Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.

Authors:  Matthew R Grace; Emily Hardisty; Sarah K Dotters-Katz; Neeta L Vora; Jeffrey A Kuller
Journal:  Obstet Gynecol Surv       Date:  2016-08       Impact factor: 2.347

5.  Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.

Authors:  Kirsten A Riggan; Sharron Close; Megan A Allyse
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-03-17       Impact factor: 3.908

6.  Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.

Authors:  Elisabetta D'Aversa; Giulia Breveglieri; Effrossyni Boutou; Angeliki Balassopoulou; Ersi Voskaridou; Patrizia Pellegatti; Giovanni Guerra; Chiara Scapoli; Roberto Gambari; Monica Borgatti
Journal:  Int J Mol Sci       Date:  2022-03-04       Impact factor: 5.923

Review 7.  Origins, structures, and functions of circulating DNA in oncology.

Authors:  A R Thierry; S El Messaoudi; P B Gahan; P Anker; M Stroun
Journal:  Cancer Metastasis Rev       Date:  2016-09       Impact factor: 9.264

8.  Testosterone Treatment in Infants With 47,XXY: Effects on Body Composition.

Authors:  Shanlee M Davis; Regina M Reynolds; Dana M Dabelea; Philip S Zeitler; Nicole R Tartaglia
Journal:  J Endocr Soc       Date:  2019-09-26

Review 9.  Non-Invasive Prenatal Testing beyond Trisomies.

Authors:  Ioan Dumitru Suciu; Oana Daniela Toader; Slavyana Galeva; Lucian Pop
Journal:  J Med Life       Date:  2019 Jul-Sep

10.  Patient-Centered Obstetric Care in the Age of Cell-Free Fetal DNA Prenatal Screening.

Authors:  Patricia K Agatisa; Mary Beth Mercer; Ariane Mitchum; Marissa B Coleridge; Ruth M Farrell
Journal:  J Patient Exp       Date:  2017-08-30
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