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Abstract

July-September 2016 | Vol. 9 | Issue 3 | Page No 19-20
Tradition with a Twist: New Avenues for Genetic Tests
Moirangthem Amita
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: amis.72000@gmail.com
 
Abstract
Fetuses with ultrasonographically detected abnormalities are known to carry a high percentage of submicroscopic aberrations in addition to microscopically visible chromosome abnormalities. These could only be detected by targeted testing in case of specific ultrasound anomalies, for example, 22q11 deletion in fetuses with cardiac defects. However, prenatal phenotyping based on ultrasonographic evaluation is difficult. The whole genome cytogenetic microarray is a solution to this problem. Srebniak et al. studied the microarray findings in 1033 fetuses. In 7.4% fetuses a pathogenic array finding was detected of which 75% were submicroscopic aberrations. More importantly, in 0.5% an unexpected diagnosis of a known syndrome (often severe, early onset, untreatable) was made that did not explain the abnormal ultrasound findings. So, karyotyping as a stand-alone test is no longer adequate and genomic SNP array should be the preferred first-tier technique to detect causative chromosome aberrations in fetuses with ultrasonographic anomalies.
 
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