Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
By R. Wapner, C. Martin, B. Levy, B. Ballif, C. Eng, J. Zachary, Melissa Savage, L. Platt, D. Saltzman, W. Grobman and 14 more. New England Journal of Medicine, 2012
1,264 citations recorded by the source corpus.
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.)
Subfields: Genetics, Pediatrics, Perinatology and Child Health
View Paper: https://www.semanticscholar.org/paper/b4ff527a4b599c245374a6f24a7b4be1dd8eb6b4
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In Genetics
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In Pediatrics, Perinatology and Child Health
Citations in the corpus
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2019, methodology): “We first collated coordinates of pathogenic ‘‘genomic disorder’’ (GD) regions as reported by nine previous studies (Sanders et al., 2015; Cooper et al., 2011; Wapner et al., 2012; Schaefer et al., 2013; Dittwald et al., 2013; Coe et al., 2014; Pinto et al., 2010; Wright et al., 2015; Rehm et al., 20”
- Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics (2016, background): “An NIH study of prenatal CMA suggested the background rate of small clinically signiicant CNVs is 1–2%.(34) Fetal diagnostic testing carries a small risk.”