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Diagnostic utility of array‐based comparative genomic hybridization (aCGH) in a prenatal setting
Author(s) -
Maya Idit,
Davidov Bella,
Gershovitz Liron,
Zalzstein Yael,
Taub Ellen,
Coppinger Justine,
Shaffer Lisa G.,
Shohat Mordechai
Publication year - 2010
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.2626
Subject(s) - comparative genomic hybridization , karyotype , prenatal diagnosis , chromosomal abnormality , genetic counseling , abnormality , etiology , copy number variation , medicine , advanced maternal age , fetus , genetics , biology , obstetrics , chromosome , pregnancy , pathology , genome , gene , psychiatry
Objective Array‐based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009. Method The indications for testing were fetal anomalies on ultrasound (U/S), advanced maternal age (AMA), family history of a disorder of unknown etiology, parental concern, abnormal routine karyotype and abnormal serum biochemical screening for common fetal aneuploidies. Results Of 15 cases with a known abnormal karyotype, 11 had a normal aCGH. This enabled us to reassure the families and the pregnancies were continued. The remaining four showed an abnormal aCGH, confirming the chromosomes were unbalanced, and were terminated. Of 254 cases with a normal karyotype, 3 had an abnormal aCGH and were terminated. Overall, new clinically relevant results were detected by aCGH in 18 cases, providing additional information for prenatal genetic counseling and risk assessment. Conclusion Our results suggest that prenatal aCGH should be offered particularly in cases with abnormal U/S. We found the rate of detecting an abnormality by aCGH in low‐risk pregnancies was 1:84, but larger studies will be needed to expand our knowledge and validate our conclusions. Copyright © 2010 John Wiley & Sons, Ltd.