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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
Author(s) -
Van den Veyver Ignatia B.,
Patel Ankita,
Shaw Chad A.,
Pursley Amber N.,
Kang SungHae L.,
Simovich Marcia J.,
Ward Patricia A.,
Darilek Sandra,
Johnson Anthony,
Neill Sarah E.,
Bi Weimin,
White Lisa D.,
Eng Christine M.,
Lupski James R.,
Cheung Sau Wai,
Beaudet Arthur L.
Publication year - 2009
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.2127
Subject(s) - comparative genomic hybridization , amniocentesis , prenatal diagnosis , chorionic villus sampling , copy number variation , karyotype , medicine , clinical significance , advanced maternal age , microarray , chorionic villi , biology , genetics , obstetrics , pathology , chromosome , pregnancy , fetus , genome , gene , gene expression
Objective To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa. Methods Women undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo , or inherited prior to issuing a report. Results We analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The most common indications were advanced maternal age ( N = 123) and abnormal ultrasound findings ( N = 84). We detected 58 CNVs (19.3%). Of these, 40 (13.3%) were interpreted as likely benign, 15 (5.0%) were of defined pathological significance, while 3 (1.0%) were of uncertain clinical significance. For seven (∼2.3% or 1/43), aCGH contributed important new information. For two of these (1% or ∼1/150), the abnormality would not have been detected without aCGH analysis. Conclusion Although aCGH‐detected benign inherited variants in 13.3% of cases, these did not present major counseling difficulties, and the procedure is an improved diagnostic tool for prenatal detection of chromosomal abnormalities. Copyright © 2008 John Wiley & Sons, Ltd.