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

Trilochan Sahoo; Sau Wai Cheung; Patricia Ward; Sandra Darilek; Ankita Patel; Daniela del Gaudio; Sung Hae L Kang; Seema R Lalani; Jiangzhen Li; Sallie McAdoo; Audrey Burke; Chad A Shaw; Pawel Stankiewicz; A Craig Chinault; Ignatia B Van den Veyver; Benjamin B Roa; Arthur L Beaudet; Christine M Eng

doi:10.1097/01.gim.0000245576.47154.63

PubMed · 17108764

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

Trilochan Sahoo·Sau Wai Cheung·Patricia Ward·Sandra Darilek·Ankita Patel·Daniela del Gaudio·Sung Hae L Kang·Seema R Lalani·Jiangzhen Li·Sallie McAdoo·Audrey Burke·Chad A Shaw·Pawel Stankiewicz·A Craig Chinault·Ignatia B Van den Veyver·Benjamin B Roa·Arthur L Beaudet·Christine M Eng

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Abstract

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.

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Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 3 Decision Making Female Gene Dosage Genetic Counseling Humans Male Microarray Analysis Nucleic Acid Hybridization Pregnancy Prenatal Diagnosis Journal Article Validation Study

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Trilochan Sahoo, Sau Wai Cheung, Patricia Ward, Sandra Darilek, Ankita Patel, Daniela del Gaudio, Sung Hae L Kang, Seema R Lalani, Jiangzhen Li, Sallie McAdoo, Audrey Burke, Chad A Shaw, Pawel Stankiewicz, A Craig Chinault, Ignatia B Van den Veyver, Benjamin B Roa, Arthur L Beaudet, Christine M Eng. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.. https://doi.org/10.1097/01.gim.0000245576.47154.63

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