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Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization
Author(s) -
Ozcan Tulin,
Burki Nicole,
Parkash Vinita,
Huang Xiaohua,
Pejovic Tanja,
Mahoney Maurice J.,
Ward David C.
Publication year - 2000
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/(sici)1097-0223(200001)20:1<41::aid-pd742>3.0.co;2-0
Subject(s) - comparative genomic hybridization , pathology , medicine , in situ hybridization , biology , genetics , genome , gene , gene expression
Comparative genomic hybridization (CGH) is a FISH‐related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin‐embedded placental samples. Ten samples from paraffin‐embedded blocks of 6 control placentas and fetoplacental tissue from 10 aneuploidies, and 2 unbalanced aberrations were evaluated. Balanced karyotype profiles were obtained from samples of healthy placentas and all samples from the same placenta appeared to have similar confidence intervals. CGH analysis of four cases of trisomy 21, three cases of trisomy 18, one case of trisomy 13, one case of trisomy 15 and one case of trisomy 7 all showed overrepresentation of the respective trisomic chromosome. The CGH profile was also in accordance with the karyotyping of a case with isochromosome 21. The CGH profile of a case with der (2)t(2;6)(q37.3;q22.2) revealed partial trisomy for chromosome 6 between q21 and q27. CGH may be a useful adjunct in prenatal genetic diagnosis when retrospective diagnosis is needed from archival samples. Copyright © 2000 John Wiley & Sons, Ltd.