Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 1 , ISSUE 4 ( October-December, 2007 ) > List of Articles

RESEARCH ARTICLE

Sonographic Indications for Molecular Genetic Testing

Kenneth Ward

Keywords : DNA testing,fetal dysmorphology,microarray,molecular diagnostics,polymerase chain reaction

Citation Information : Ward K. Sonographic Indications for Molecular Genetic Testing. Donald School J Ultrasound Obstet Gynecol 2007; 1 (4):7-17.

DOI: 10.5005/jp-journals-10009-1114

License: CC BY-NC 4.0

Published Online: 00-12-2007

Copyright Statement:  Copyright © 2007; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

There are many well-accepted indications for cytogenetic testing indicated by the detection of a fetal abnormality on prenatal ultrasound. Over the last decade, the molecular bases for thousands of single gene disorders have been elucidated, molecular cytogenetic tests have been created, and molecular assays for most infectious agents have been developed—potentially improving our ability to make accurate prenatal diagnoses. This review describes the role of molecular diagnostics in detecting chromosomal microdeletions and microduplications, single gene disorders, and infectious diseases. We show that molecular genetic testing is now frequently indicated in the evaluation of abnormal ultrasound findings. A significant educational effort will be necessary to incorporate new molecular knowledge into obstetric ultrasound practice.


PDF Share
  1. Medical Genetics Informational Resource (database online). Copyright, University of Washington, Seattle, 1995-2006. Available at http://http//:www.genetests.org. Accessed October 18, 2006.
  2. Detection of chromosomal abnormalities by comparative genomic hybridization. Curr Opin Obstet Gynecol 2005;17:171-7.
  3. Molecular methods for rapid detection of aneuploidy. J Appl Genet 2005;46:207-15.
  4. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), October 20, 2006. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
  5. Smith's Recognizable Patterns of Human Malformation. Philadelpia: Saunders, 2005.
  6. Chips with everything: DNA microarrays in infectious diseases. Lancet Infect Dis 2004;4:100-11.
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.