ArticleObstetrics and gynecology2014
Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis.
Article in Obstetrics and gynecology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 4 of them syntheses that pooled it.
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Who cites it
81 citing papers in PubMed, 4 syntheses or guidelines pooled it, 245 citations in OpenAlex.
- Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.Molecular genetics & genomic medicine · 2023Pooled it
- Is vanishing twin syndrome associated with adverse obstetric outcomes of ART singletons? A systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2020Pooled it
- Advanced paternal age is associated with an increased risk of spontaneous miscarriage: a systematic review and meta-analysis.Human reproduction update · 2020Pooled it
- Genetic abnormalities and pregnancy loss.Seminars in perinatology · 2019Pooled it
- Distribution of diandric and digynic triploidy depending on gestational age.Journal of assisted reproduction and genetics · 2021Trial
- The Asymmetric Threat of Maternal Cell Contamination in Prenatal Single-Gene Testing.Diagnostics (Basel, Switzerland) · 2026Article
- Prenatal genetic diagnosis and pregnancy outcomes of the surviving co-twin after spontaneous single intrauterine fetal demise.Scientific reports · 2026Article
- High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Clinical genetics · 2026Article
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.European journal of medical research · 2025Article
- The hidden causes of pregnancy loss: a closer look.Journal of translational medicine · 2025Article
- Sequence diversity lost in early pregnancy.Nature · 2025Article
- Diencephalic-mesencephalic junction dysplasia: case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Association between spontaneous abortion and chromosomal abnormalities of products of conception from spontaneous and ART-conceived pregnancies.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).Journal of assisted reproduction and genetics · 2025Article
- Impact of euploid blastocyst developmental stage and morphological grading on pregnancy outcomes in young recurrent pregnancy loss patients: association with parental chromosomal status.Frontiers in endocrinology · 2025Article
- Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid.Journal of assisted reproduction and genetics · 2024Article
- Incidence of haploidy and triploidy in trophectoderm biopsies of blastocysts derived from normally and abnormally fertilized oocytes.Journal of assisted reproduction and genetics · 2024Article
- Are there associations between clinical and embryological factors with pregnancy loss following transfer of a single euploid embryo?Reproduction & fertility · 2024Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report the full cohort of identifiable anomalies, regardless of known clinical significance, in a large-scale cohort of postmiscarriage products-of-conception samples analyzed using a high-resolution single-nucleotide polymorphism (SNP)-based microarray platform. High-resolution chromosomal microarray analysis allows for the identification of visible and submicroscopic cytogenomic imbalances; the specific use of SNPs permits detection of maternal cell contamination, triploidy, and uniparental disomy.
methodsMiscarriage specimens were sent to a single laboratory for cytogenomic analysis. Chromosomal microarray analysis was performed using a SNP-based genotyping microarray platform. Results were evaluated at the cytogenetic and microscopic (greater than 10 Mb) and submicroscopic (less than 10 Mb) levels. Maternal cell contamination was assessed using information derived from fetal and maternal SNPs.
resultsResults were obtained on 2,389 of 2,392 specimens (99.9%) that were less than 20 weeks of gestation. Maternal cell contamination was identified in 528 (22.0%) specimens. The remaining 1,861 specimens were considered to be of true fetal origin. Of these, 1,106 (59.4%) showed classical cytogenetic abnormalities: aneuploidy accounted for 945 (85.4%), triploidy for 114 (10.3%), and structural anomalies or tetraploidy for the remaining 47 (4.2%). Of the 755 (40.6%) cases considered normal at the cytogenetic level, SNP chromosomal microarray analysis revealed a clinically significant copy number change or whole-genome uniparental disomy in 12 (1.6%) and three (0.4%) cases, respectively.
conclusionChromosomal microarray analysis of products-of-conception specimens yields a high diagnostic return. Using SNPs extends the scope of detectable genomic abnormalities and facilitates reporting "true" fetal results. This supports the use of SNP chromosomal microarray analysis for cytogenomic evaluation of miscarriage specimens when clinically indicated. LEVEL OF EVIDENCE: III.
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