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Current approaches to prenatal screening and diagnosis

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Specialist Review

  1. Paula C. Cosper

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g106206

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Cosper, P. C. 2005. Current approaches to prenatal screening and diagnosis. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:69.

Author Information

  1. University of Alabama at Birmingham, Birmingham, AL, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

Prenatal screening and diagnosis has advanced tremendously since its inception in 1966. We now have various means for screening in the first and second trimesters of pregnancy using noninvasive techniques such as ultrasound and maternal serum screening. For diagnostic testing, invasive procedures are required. The most frequently used procedures are chorionic villus sampling and amniocentesis. The types of testing on these fetal cells and number of abnormalities detectable are changing rapidly. Techniques allowing defects to be detected before pregnancy are also becoming more readily available. The current methods and technologies for prenatal screening and diagnosis are discussed.

Keywords:

  • prenatal diagnosis;
  • maternal serum screen;
  • amniocentesis;
  • preimplantation genetics;
  • chorionic villus