Literature DB >> 22772565

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges.

Diana W Bianchi1.   

Abstract

Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment.

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Year:  2012        PMID: 22772565      PMCID: PMC4433004          DOI: 10.1038/nm.2829

Source DB:  PubMed          Journal:  Nat Med        ISSN: 1078-8956            Impact factor:   53.440


  116 in total

1.  Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism.

Authors:  H Masuzaki; K Miura; K-i Yoshiura; S Yoshimura; N Niikawa; T Ishimaru
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

2.  Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

Authors:  Idit Maya; Bella Davidov; Liron Gershovitz; Yael Zalzstein; Ellen Taub; Justine Coppinger; Lisa G Shaffer; Mordechai Shohat
Journal:  Prenat Diagn       Date:  2010-12       Impact factor: 3.050

3.  Genes on the Web--direct-to-consumer marketing of genetic testing.

Authors:  Adam J Wolfberg
Journal:  N Engl J Med       Date:  2006-08-10       Impact factor: 91.245

4.  ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.

Authors: 
Journal:  Obstet Gynecol       Date:  2007-01       Impact factor: 7.661

5.  At-home fetal DNA gender testing: caveat emptor.

Authors:  Diana W Bianchi
Journal:  Obstet Gynecol       Date:  2006-02       Impact factor: 7.661

6.  Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.

Authors:  M Alberry; D Maddocks; M Jones; M Abdel Hadi; S Abdel-Fattah; N Avent; P W Soothill
Journal:  Prenat Diagn       Date:  2007-05       Impact factor: 3.050

7.  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

Review 8.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

9.  A transcriptional profile of the decidua in preeclampsia.

Authors:  Mari Løset; Siv B Mundal; Matthew P Johnson; Mona H Fenstad; Katherine A Freed; Ingrid A Lian; Irina P Eide; Line Bjørge; John Blangero; Eric K Moses; Rigmor Austgulen
Journal:  Am J Obstet Gynecol       Date:  2011-01       Impact factor: 8.661

10.  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
Journal:  Clin Chem       Date:  2012-03-26       Impact factor: 8.327

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  36 in total

1.  The maternal plasma proteome changes as a function of gestational age in normal pregnancy: a longitudinal study.

Authors:  Roberto Romero; Offer Erez; Eli Maymon; Piya Chaemsaithong; Zhonghui Xu; Percy Pacora; Tinnakorn Chaiworapongsa; Bogdan Done; Sonia S Hassan; Adi L Tarca
Journal:  Am J Obstet Gynecol       Date:  2017-03-03       Impact factor: 8.661

2.  Treating trisomies: Prenatal Down's syndrome therapies explored in mice.

Authors:  Bridget M Kuehn
Journal:  Nat Med       Date:  2016-01       Impact factor: 53.440

3.  OLIG2 Drives Abnormal Neurodevelopmental Phenotypes in Human iPSC-Based Organoid and Chimeric Mouse Models of Down Syndrome.

Authors:  Ranjie Xu; Andrew T Brawner; Shenglan Li; Jing-Jing Liu; Hyosung Kim; Haipeng Xue; Zhiping P Pang; Woo-Yang Kim; Ronald P Hart; Ying Liu; Peng Jiang
Journal:  Cell Stem Cell       Date:  2019-05-23       Impact factor: 24.633

4.  Molecular Diagnostics and In Utero Therapeutics for Orofacial Clefts.

Authors:  J D Oliver; E C Turner; L R Halpern; S Jia; P Schneider; R N D'Souza
Journal:  J Dent Res       Date:  2020-07-01       Impact factor: 6.116

5.  To know or not to know the genomic sequence of a fetus.

Authors:  Christian Netzer; Dagmar Schmitz; Wolfram Henn
Journal:  Nat Rev Genet       Date:  2012-09-04       Impact factor: 53.242

6.  Prenatal diagnostics: Fetal genes in mother's blood.

Authors:  Diana W Bianchi
Journal:  Nature       Date:  2012-07-18       Impact factor: 49.962

Review 7.  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 8.  Preterm labor: one syndrome, many causes.

Authors:  Roberto Romero; Sudhansu K Dey; Susan J Fisher
Journal:  Science       Date:  2014-08-14       Impact factor: 47.728

Review 9.  Noninvasive prenatal testing: the future is now.

Authors:  Errol R Norwitz; Brynn Levy
Journal:  Rev Obstet Gynecol       Date:  2013

10.  Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.

Authors:  Anupama Srinivasan; Diana W Bianchi; Hui Huang; Amy J Sehnert; Richard P Rava
Journal:  Am J Hum Genet       Date:  2013-01-10       Impact factor: 11.025

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