ArticleMolecular cytogenetics2014
Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.Reproduction & fertility · 2026Article
- Post-implantation analysis of genomic variations in the progeny from developing fetus to birth.Human genomics · 2024Article
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.Nature medicine · 2023Article
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests.Journal of clinical medicine · 2023Article
- Article
- Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2022Article
- Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.Genes · 2021Article
- Association between fetal chromosomal abnormalities and the frequency of spontaneous abortions.Experimental and therapeutic medicine · 2020Article
- Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles.Scientific reports · 2019Article
- Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.Molecular cytogenetics · 2017Article
- Whole exome sequencing in recurrent early pregnancy loss.Molecular human reproduction · 2016Article
- Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization.SpringerPlus · 2016Article
- Genomic characteristics of miscarriage copy number variants.Molecular human reproduction · 2015Article
- 1(st) trimester miscarriage: four decades of study.Translational pediatrics · 2015Review
- Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.Journal of translational medicine · 2015Article
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8 authors.
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Abstract
backgroundThis proof-of-principle study demonstrates the usefulness and robustness of a novel array based method for the elucidation of genetic causes underlying early pregnancy loss. A combined microarray utilizing comparative genomic hybridization and single nucleotide polymorphism detection (CGH + SNP) was used for parallel genome-wide identification of copy number and heterozygosity status of 70 products of conception. Results of samples with previously determined aneuploidies were juxtaposed to those of a second cohort appearing normal after routine genetic diagnostics.
resultsAll chromosomal imbalances were confirmed, in one sample of the aneuploid panel additional monosomy X was discovered. Genome-wide uniparental disomy causing a complete hydatidiform mole was identified in another sample. No specimen featured microaberrations of obvious clinical relevance. Among cases with presumable euploidy, one microdeletion and a single region of homozygosity were assigned unclear clinical significance.
conclusionsThe results prove the utility of combined imbalance and homozygosity mapping for routine workup of these challenging specimens. Moreover parallel screening at submicroscopic resolution facilitates the detection of novel genetic alterations underlying spontaneous abortion.
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