Trial reportThe New England journal of medicine2012
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Trial report in The New England journal of medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 4 registered trials, which are not on this map. Cited by 518 papers, 8 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis
Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
SNP-based Microdeletion and Aneuploidy RegisTry
Evaluation of the Contribution of Comparative Genomic Hybridization Compared to Karyotype for the Detection of Genetic Abnormalities According to Ultrasound Call Signs in Prenatal Screening: the Cohort of the Nancy Multidisciplinary Center for Prenatal Diagnosis From 2012 to 2018
Who cites it
518 citing papers in PubMed, 8 syntheses or guidelines pooled it, 1,410 citations in OpenAlex.
- Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing.Indian journal of pediatrics · 2026Guideline
- The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).Journal of assisted reproduction and genetics · 2025Guideline
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis.Archives of gynecology and obstetrics · 2023Pooled it
- Pooled it
- Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.Annals of medicine · 2026Article
- Prenatal Test Selection After First-Trimester Ultrasound Abnormalities Within a Centralized Genetic Counseling System in Japan.Journal of genetic counseling · 2026Article
- Article
- Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort.Prenatal diagnosis · 2026Article
- Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?Prenatal diagnosis · 2026Article
- Systematic evaluation of whole exome sequencing for copy number variation detection in prenatal diagnosis.Clinical and translational medicine · 2026Article
- Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.Molecular psychiatry · 2026Article
- A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics.Journal of advanced research · 2026Article
- Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Uncultured Amniocytes Enable Rapid and Clinically Informative Prenatal RNA Sequencing for Genetic Diagnosis.International journal of molecular sciences · 2026Article
- Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.Journal of translational medicine · 2026Article
- Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies.Journal of medicine and life · 2026Article
458 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 12 institutions in 1 country.
Funding
Abstract
backgroundChromosomal 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.
methodsSamples 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.
resultsWe 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.
conclusionsIn 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.