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Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
Author(s) -
Crolla John A.,
Wapner Ronald,
Van Lith Jan M. M.
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4287
Subject(s) - prenatal diagnosis , microarray , dna microarray , genetic diagnosis , clinical significance , copy number variation , medicine , biology , bioinformatics , genetics , pathology , pregnancy , fetus , gene , gene expression , genome
What's already known about this topic? Chromosomal microarrays (CMA) are routinely used in postnatal genetic diagnosis. CMA is technically applicable in prenatal diagnosis. Pros and cons of routine use are discussed as follows: technical aspects and design of array, yield, interpretation of copy number variants and variances of unknown significance (VOUS), quality control regimens.What does this study add? Pros and cons of routine use are discussed as follows: technical aspects and design of array, yield, interpretation of copy number variants and variances of unknown significance (VOUS), quality control regimens.