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aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
Author(s) -
Filges Isabel,
Kang Anjeung,
Klug Vanessa,
Wenzel Friedel,
Heinimann Karl,
Tercanli Sevgi,
Miny Peter
Publication year - 2011
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.2721
Subject(s) - chorionic villi , comparative genomic hybridization , cytotrophoblast , biology , amniocentesis , chorionic villus sampling , prenatal diagnosis , genetics , uniparental disomy , trisomy , fluorescence in situ hybridization , aneuploidy , isochromosome , karyotype , placenta , chromosome , fetus , pregnancy , gene
Abstract Objective To describe the diagnostic performance of array comparative genomic hybridization (aCGH) in the presence of mosaicism in the fetoplacental unit using direct chorionic villi. Method In an ongoing study on the diagnostic performance of aCGH in 80 high‐risk pregnancies, we studied three cases of placental mosaicism by carrying out aCGH on DNA of direct chorionic villi and chorionic villi cultures. Results Case 1: A three‐ to fourfold dosage gain of the region 18p in aCGH on direct villi was due to two additional isochromosomes 18p confined to the cytotrophoblast. Case 2: aCGH on direct villi revealed a normal result, whereas trisomy 18 mosaicism was present in cultured cells. Case 3: aCGH identifies monosomy X and mosaic disomy of the region Xp11.21‐Xq12, whereas this mosaic cell line is not present in the conventional chromosome preparation on the cytotrophoblast. Conclusion Although interpretation of aCGH results may be straightforward in the majority of cases, placental mosaicism may cause misinterpretations of rapid aCGH results on direct chorionic villi due to discrepant chromosomal constitutions of cytotrophoblast and mesenchymal villus core. Further investigations including cultures, fluorescence in situ hybridization and possible amniocentesis will still be required for interpretation of results. Copyright © 2011 John Wiley & Sons, Ltd.