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Proteomics: A novel methodology to complement prenatal diagnosis of chromosomal abnormalities and inherited human diseases

被引：11
作者：
Bahtiyar, Mert Ozan
Copel, Joshua A.
Mahoney, Maurice J.
Buhimschi, Irina A.
Buhimschi, Catalin S.
机构：
[1] Yale Univ, Sch Med, Dept Obstet Gynecol & Reprod Sci, New Haven, CT 06520 USA
[2] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA
来源：
AMERICAN JOURNAL OF PERINATOLOGY | 2007年 / 24卷 / 03期
关键词：
prenatal; diagnosis; proteomics; amniotic fluid;
D O I：
10.1055/s-2007-972927
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
The current revolution in biomedical sciences has raised new hope for early diagnosis, prevention, and treatment of human diseases. Recent advancements in genomics, proteomics, and other basic sciences are currently transforming the medical science, and offer the promise of answering many of the questions related to human diseases, including their early and accurate diagnosis. Profiling of biological fluids (Le., serum, urine, amniotic fluid, and cerebrospinal fluid) has successfully identified relevant protein biomarkers that potentially can change early diagnosis and treatment of several medical conditions related to human pregnancy. Similarly, proteomics holds the promise to complement genomics to revolutionize screening and prenatal diagnosis of genetic conditions during early pregnancy. This article summarizes current technology and reviews the application of proteomics in diagnosis of genetic disorders during human pregnancy.
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收藏
页码：167 / 181
页数：15
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