ArticleThe New England journal of medicine2012
Karyotype versus microarray testing for genetic abnormalities after stillbirth.
Article 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. Cited by 98 papers, 5 of them syntheses that pooled it.
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98 citing papers in PubMed, 5 syntheses or guidelines pooled it, 298 citations in OpenAlex.
- Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities.Journal of Korean medical science · 2021Guideline
- Pooled it
- Genetic abnormalities and pregnancy loss.Seminars in perinatology · 2019Pooled it
- Interventions for investigating and identifying the causes of stillbirth.The Cochrane database of systematic reviews · 2018Pooled it
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Chromosomal microarray versus karyotyping for prenatal diagnosis.The New England journal of medicine · 2012Trial
- Are we Prepared? Genetic Counseling for Stillbirth in the Sequencing Era.Journal of genetic counseling · 2026Article
- Review
- [Establish Standardized Pathological and Genetic Examinations to Reduce the Incidence of Stillbirth].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Review
- Genetics and Stillbirth.Clinics in perinatology · 2026Review
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.Human genetics · 2025Review
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
- Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.Journal of human genetics · 2025Article
- Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.Prenatal diagnosis · 2025Article
- Comparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results.Turkish journal of obstetrics and gynecology · 2025Article
- Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.BMC medical genomics · 2025Article
- Understanding the clinical utility of stillbirth investigations: a scoping review.BMC pregnancy and childbirth · 2025Article
- Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.PloS one · 2025Article
- Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.PloS one · 2025Article
38 more citing papers are in PubMed but not listed here.
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19 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundGenetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants.
methodsThe Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery.
resultsIn our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P=0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies.
conclusionsMicroarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.).
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