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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Journal article   Open access   Peer reviewed

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Christa Lese Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia M. Zachary, Melissa Savage, Lawrence D. Platt, Daniel Saltzman, William A. Grobman, …
The New England journal of medicine, v 367(23), pp 2175-2184
06 Dec 2012
DOI: https://doi.org/10.1056/NEJMoa1203382
PMID: 23215555
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://doi.org/10.1056/nejmoa1203382View
Published, Version of Record (VoR)Maybe Open Access (Publisher Bronze),  Open
url
https://doi.org/10.1056/NEJMoa1203382View
Published, Version of Record (VoR) Open

Abstract

General & Internal Medicine Life Sciences & Biomedicine Medicine, General & Internal Science & Technology
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.)

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Collaboration types
Industry collaboration
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Web of Science research areas
Genetics & Heredity
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