Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis
| Autor: | Brynn Levy, Christine M. Eng, Daniel H. Saltzman, Melissa Savage, Lisa G. Shaffer, Odelia Nahum, William A. Grobman, Vimla Aggarwal, Kimberly McCall, Lawrence D. Platt, Ronald J. Wapner, Elizabeth Thom, David H. Ledbetter, Blake C. Ballif, Ankita Patel, Christa Lese Martin, Susan Klugman, Joe Leigh Simpson, Allen N. Lamb, Arthur L. Beaudet, Thomas Scholl, Brian Bunke, Julia Zachary, Laird S. Jackson |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Down syndrome Pathology medicine.medical_specialty Microarray Karyotype Chromosome Disorders Context (language use) Chromosomal translocation Prenatal diagnosis Ultrasonography Prenatal Article Pregnancy Prenatal Diagnosis medicine Chromosomes Human Humans Genetic Testing Advanced maternal age Oligonucleotide Array Sequence Analysis Genetic testing Chromosome Aberrations Fetus medicine.diagnostic_test Obstetrics Microarray analysis techniques business.industry Obstetrics and Gynecology General Medicine medicine.disease Human genetics Fetal Diseases Karyotyping Female Down Syndrome business Maternal Age |
| Zdroj: | Obstetrical & Gynecological Survey. 68:276-278 |
| ISSN: | 0029-7828 |
| DOI: | 10.1097/01.ogx.0000429294.57890.b8 |
| Popis: | Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Methods Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. Results We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. Conclusions In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) |
| Databáze: | OpenAIRE |
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