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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Purpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to r... Full description

Journal Title: Genetics in medicine 2006, Vol.8 (11), p.719-727
Main Author: Sahoo, Trilochan
Other Authors: Cheung, Sau Wai , Ward, Patricia , Darilek, Sandra , Patel, Ankita , del Gaudio, Daniela , Kang, Sung Hae L. , Lalani, Seema R. , Li, Jiangzhen , McAdoo, Sallie , Burke, Audrey , Shaw, Chad A. , Stankiewicz, Pawel , Chinault, A. Craig , Van den Veyver, Ignatia B. , Roa, Benjamin B. , Beaudet, Arthur L. , Eng, Christine M.
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: United States: Elsevier Inc
ID: ISSN: 1098-3600
Link: https://www.ncbi.nlm.nih.gov/pubmed/17108764
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title: Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
format: Article
creator:
  • Sahoo, Trilochan
  • Cheung, Sau Wai
  • Ward, Patricia
  • Darilek, Sandra
  • Patel, Ankita
  • del Gaudio, Daniela
  • Kang, Sung Hae L.
  • Lalani, Seema R.
  • Li, Jiangzhen
  • McAdoo, Sallie
  • Burke, Audrey
  • Shaw, Chad A.
  • Stankiewicz, Pawel
  • Chinault, A. Craig
  • Van den Veyver, Ignatia B.
  • Roa, Benjamin B.
  • Beaudet, Arthur L.
  • Eng, Christine M.
subjects:
  • Chromosome Aberrations
  • Chromosome Banding - methods
  • Chromosomes, Human, Pair 3
  • comparative genomic hybridization
  • Decision Making
  • Female
  • Gene Dosage
  • Genetic Counseling
  • Humans
  • Male
  • Microarray Analysis - methods
  • microdeletion syndromes
  • Nucleic Acid Hybridization - methods
  • Pregnancy
  • prenatal diagnosis
  • Prenatal Diagnosis - methods
ispartof: Genetics in medicine, 2006, Vol.8 (11), p.719-727
description: Purpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification. Results: Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%. Conclusion: This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies.
language: eng
source:
identifier: ISSN: 1098-3600
fulltext: no_fulltext
issn:
  • 1098-3600
  • 1530-0366
url: Link


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titlePrenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
creatorSahoo, Trilochan ; Cheung, Sau Wai ; Ward, Patricia ; Darilek, Sandra ; Patel, Ankita ; del Gaudio, Daniela ; Kang, Sung Hae L. ; Lalani, Seema R. ; Li, Jiangzhen ; McAdoo, Sallie ; Burke, Audrey ; Shaw, Chad A. ; Stankiewicz, Pawel ; Chinault, A. Craig ; Van den Veyver, Ignatia B. ; Roa, Benjamin B. ; Beaudet, Arthur L. ; Eng, Christine M.
creatorcontribSahoo, Trilochan ; Cheung, Sau Wai ; Ward, Patricia ; Darilek, Sandra ; Patel, Ankita ; del Gaudio, Daniela ; Kang, Sung Hae L. ; Lalani, Seema R. ; Li, Jiangzhen ; McAdoo, Sallie ; Burke, Audrey ; Shaw, Chad A. ; Stankiewicz, Pawel ; Chinault, A. Craig ; Van den Veyver, Ignatia B. ; Roa, Benjamin B. ; Beaudet, Arthur L. ; Eng, Christine M.
descriptionPurpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification. Results: Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%. Conclusion: This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies.
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subjectChromosome Aberrations ; Chromosome Banding - methods ; Chromosomes, Human, Pair 3 ; comparative genomic hybridization ; Decision Making ; Female ; Gene Dosage ; Genetic Counseling ; Humans ; Male ; Microarray Analysis - methods ; microdeletion syndromes ; Nucleic Acid Hybridization - methods ; Pregnancy ; prenatal diagnosis ; Prenatal Diagnosis - methods
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descriptionPurpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification. Results: Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%. Conclusion: This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies.
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8Li, Jiangzhen
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11Shaw, Chad A.
12Stankiewicz, Pawel
13Chinault, A. Craig
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15Roa, Benjamin B.
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titlePrenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
authorSahoo, Trilochan ; Cheung, Sau Wai ; Ward, Patricia ; Darilek, Sandra ; Patel, Ankita ; del Gaudio, Daniela ; Kang, Sung Hae L. ; Lalani, Seema R. ; Li, Jiangzhen ; McAdoo, Sallie ; Burke, Audrey ; Shaw, Chad A. ; Stankiewicz, Pawel ; Chinault, A. Craig ; Van den Veyver, Ignatia B. ; Roa, Benjamin B. ; Beaudet, Arthur L. ; Eng, Christine M.
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1Chromosome Banding - methods
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4Decision Making
5Female
6Gene Dosage
7Genetic Counseling
8Humans
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10Microarray Analysis - methods
11microdeletion syndromes
12Nucleic Acid Hybridization - methods
13Pregnancy
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15Prenatal Diagnosis - methods
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8Li, Jiangzhen
9McAdoo, Sallie
10Burke, Audrey
11Shaw, Chad A.
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13Chinault, A. Craig
14Van den Veyver, Ignatia B.
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abstractPurpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis. Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification. Results: Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%. Conclusion: This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies.
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