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Clinical Application of aCGH for Prenatal Diagnosis: Experience with >350 Cases
Author(s) -
Cheung Sau Wai
Publication year - 2009
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.23.1_supplement.179.3
Subject(s) - amniocentesis , prenatal diagnosis , comparative genomic hybridization , copy number variation , clinical significance , medicine , chorionic villus sampling , advanced maternal age , karyotype , biology , chromosome , genetics , fetus , pathology , genome , pregnancy , gene
We report our experience in using a targeted clinical aCGH for prenatal diagnosis including assessment of variants of uncertain significance and the ability to detect abnormalities not detected by karyotype. Women who underwent amniocentesis or chorionic villus sampling (CVS) were offered aCGH as an adjunct test. Fetal DNA was analyzed on targeted BAC or oligonucleotide arrays, optimized for detection of genomic disorders with reduced detection of polymorphic copy number variants (CNV). We analyzed 350 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, fifteen (5.0%) were of defined pathological significance while three (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. We conclude that aCGH is an important new diagnostic tool for prenatal diagnosis of submicroscopic and larger unbalanced genomic rearrangements and for identification of the genomic content of marker chromosomes. Although aCGH detected benign inherited variants in 13% of cases, these did not present major counseling difficulties.