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

被引:97
作者
Bianchi, Diana W. [1 ,2 ]
机构
[1] Tufts Med Ctr, Mother Infant Res Inst, Boston, MA USA
[2] Floating Hosp Children, Dept Pediat, Div Genet, Boston, MA USA
基金
美国国家卫生研究院;
关键词
GENE-EXPRESSION ANALYSIS; PLACENTAL MESSENGER-RNA; CELL-FREE DNA; PREGNANCY-ASSOCIATED MICRORNAS; AMNIOTIC-FLUID CELL; MATERNAL PLASMA; DOWN-SYNDROME; HYBRIDIZATION ACGH; OXIDATIVE STRESS; CHROMOSOMAL MICROARRAY;
D O I
10.1038/nm.2829
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:1041 / 1051
页数:11
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