Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization

Tulin Ozcan; Nicole Burki; Vinita Parkash; Xiaohua Huang; Tanja Pejovic; Maurice J. Mahoney; David C. Ward

doi:10.1002/(SICI)1097-0223(200001)20:1<41::AID-PD742>3.0.CO;2-0

Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization

Tulin Ozcan, Nicole Burki, Vinita Parkash, Xiaohua Huang, Tanja Pejovic, Maurice J. Mahoney, David C. Ward

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

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 (C) 2000 John Wiley and Sons, Ltd.

Original language	English (US)
Pages (from-to)	41-44
Number of pages	4
Journal	Prenatal Diagnosis
Volume	20
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1097-0223(200001)20:1<41::AID-PD742>3.0.CO;2-0
State	Published - 2000
Externally published	Yes

Keywords

Aneuploidy
Comparative genomic hybridization
Fetal karyotype

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

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10.1002/(SICI)1097-0223(200001)20:1<41::AID-PD742>3.0.CO;2-0

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title = "Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization",

abstract = "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 (C) 2000 John Wiley and Sons, Ltd.",

keywords = "Aneuploidy, Comparative genomic hybridization, Fetal karyotype",

author = "Tulin Ozcan and Nicole Burki and Vinita Parkash and Xiaohua Huang and Tanja Pejovic and Mahoney, {Maurice J.} and Ward, {David C.}",

year = "2000",

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AU - Ozcan, Tulin

AU - Burki, Nicole

AU - Parkash, Vinita

AU - Huang, Xiaohua

AU - Pejovic, Tanja

AU - Mahoney, Maurice J.

AU - Ward, David C.

PY - 2000

Y1 - 2000

N2 - 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 (C) 2000 John Wiley and Sons, Ltd.

AB - 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 (C) 2000 John Wiley and Sons, Ltd.

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Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization

Abstract

Keywords

ASJC Scopus subject areas

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