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Am J Perinatol 2007; 24(3): 167-181
DOI: 10.1055/s-2007-972927
Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Proteomics: A Novel Methodology to Complement Prenatal Diagnosis of Chromosomal Abnormalities and Inherited Human Diseases

Mert Ozan Bahtiyar1 , Joshua A. Copel1 , Maurice J. Mahoney1 , 2 , Irina A. Buhimschi1 , Catalin S. Buhimschi1
  • 1Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut
  • 2Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
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Publikationsverlauf

Publikationsdatum:
19. März 2007 (online)

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ABSTRACT

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 (i.e., 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.

KEYWORDS

Prenatal - diagnosis - proteomics - amniotic fluid

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Mert Ozan BahtiyarM.D. 

Department of Obstetrics and Gynecology, Yale University School of Medicine

333 Cedar Street, P.O. Box 208063, New Haven, CT 06520-8063

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