Literature DB >> 26187875

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

Lyn S Chitty1, Y M Dennis Lo2.   

Abstract

The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders.
Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2015        PMID： 26187875      PMCID： PMC4561399          DOI： 10.1101/cshperspect.a023085

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN： 2157-1422            Impact factor:   6.915


  123 in total

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Authors:  L S Chitty; D R Griffin; C Meaney; A Barrett; A Khalil; E Pajkrt; T J Cole
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2.  Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies.

Authors:  Maria del Mar Gil; Maria Soledad Quezada; Barbara Bregant; Argyro Syngelaki; Kypros H Nicolaides
Journal:  Fetal Diagn Ther       Date:  2013-11-15       Impact factor: 2.587

3.  Detection of fetal RHD-specific sequences in maternal plasma.

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4.  Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Authors:  Diana W Bianchi; Lawrence D Platt; James D Goldberg; Alfred Z Abuhamad; Amy J Sehnert; Richard P Rava
Journal:  Obstet Gynecol       Date:  2012-05       Impact factor: 7.661

5.  Noninvasive prenatal testing: the paradigm is shifting rapidly.

Authors:  Lyn S Chitty; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

6.  Noninvasive prenatal testing goes global.

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7.  Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.

Authors:  Min Pan; Fa Tao Li; Yan Li; Fu Man Jiang; Dong Zhi Li; Tze Kin Lau; Can Liao
Journal:  Prenat Diagn       Date:  2013-03-27       Impact factor: 3.050

8.  Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia.

Authors:  Angela N Barrett; Thomas C R McDonnell; K C Allen Chan; Lyn S Chitty
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9.  Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

Authors:  Melissa Hill; David Wright; Rebecca Daley; Celine Lewis; Fiona McKay; Sarah Mason; Nicholas Lench; Abigail Howarth; Christopher Boustred; Kitty Lo; Vincent Plagnol; Kevin Spencer; Jane Fisher; Mark Kroese; Stephen Morris; Lyn S Chitty
Journal:  BMC Pregnancy Childbirth       Date:  2014-07-16       Impact factor: 3.007

10.  Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Authors:  Melissa Hill; Philip Twiss; Talitha I Verhoef; Suzanne Drury; Fiona McKay; Sarah Mason; Lucy Jenkins; Stephen Morris; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2015-04-05       Impact factor: 3.050
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  15 in total

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2.  CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

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Journal:  Eur J Hum Genet       Date:  2020-01-02       Impact factor: 4.246

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Review 5.  The potential of liquid biopsies for the early detection of cancer.

Authors:  Ellen Heitzer; Samantha Perakis; Jochen B Geigl; Michael R Speicher
Journal:  NPJ Precis Oncol       Date:  2017-10-17

Review 6.  Recent trends in prenatal genetic screening and testing.

Authors:  Ondrej Pös; Jaroslav Budiš; Tomáš Szemes
Journal:  F1000Res       Date:  2019-05-31

7.  Anophthalmia including next-generation sequencing-based approaches.

Authors:  Philippa Harding; Brian P Brooks; David FitzPatrick; Mariya Moosajee
Journal:  Eur J Hum Genet       Date:  2019-07-29       Impact factor: 4.246

8.  Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencing.

Authors:  Anders Ståhlberg; Paul M Krzyzanowski; Jennifer B Jackson; Matthew Egyud; Lincoln Stein; Tony E Godfrey
Journal:  Nucleic Acids Res       Date:  2016-04-07       Impact factor: 16.971

9.  Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics.

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10.  Unravelling the biological secrets of microchimerism by single-cell analysis.

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