Donald School Journal of Ultrasound in Obstetrics and Gynecology

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


Sonographic Indications for Molecular Genetic Testing

Kenneth Ward

Keywords : DNA testing,molecular diagnostics,fetal dysmorphology,microarray,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: 01-12-2008

Copyright Statement:  Copyright © 2007; The Author(s).


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.

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