ArticleAmerican journal of human genetics2019
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.Genes · 2020Pooled it
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.Prenatal diagnosis · 2026Article
- Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.Science China. Life sciences · 2026Article
- Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes.Diagnostics (Basel, Switzerland) · 2026Article
- Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study.BMC pregnancy and childbirth · 2026Article
- Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements.BMC genomics · 2026Article
- Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR.BMC genomics · 2026Article
- Progesterone in recurrent pregnancy loss: from controversial efficacy to mechanism-based patient stratification.Frontiers in pharmacology · 2026Review
- Recent advances in the detection technologies for balanced chromosomal rearrangements.Frontiers in genetics · 2026Review
- Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study.BMC pregnancy and childbirth · 2025Observational
- Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.Journal of assisted reproduction and genetics · 2025Article
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.Italian journal of pediatrics · 2025Article
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- Analysis of pregnancy outcomes in patients with unexplained recurrent miscarriage assisted by IVF/ICSI with or without PGT-A.Journal of assisted reproduction and genetics · 2025Article
- Comparison of hysteroscopic adhesiolysis with electrosurgery instrument or hysteroscopic scissors in the treatment of intrauterine adhesions of infertile or recurrent pregnancy loss women.Archives of gynecology and obstetrics · 2025Article
- Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.NPJ genomic medicine · 2025Article
- Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study.EBioMedicine · 2025Article
- Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing.Methods in molecular biology (Clifton, N.J.) · 2025Article
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Authors and funding
39 authors at 8 institutions in 5 countries.
Funding
Abstract
Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic tool to define the contribution of chromosomal abnormalities in human diseases. In this study we evaluated its utility in RM-affected couples. We performed low-pass GS retrospectively for 1,090 RM-affected couples, all of whom had routine chromosome analysis. A customized sequencing and interpretation pipeline was developed to identify chromosomal rearrangements and deletions/duplications with confirmation by fluorescence in situ hybridization, chromosomal microarray analysis, and PCR studies. Low-pass GS yielded results in 1,077 of 1,090 couples (98.8%) and detected 127 chromosomal abnormalities in 11.7% (126/1,077) of couples; both members of one couple were identified with inversions. Of the 126 couples, 39.7% (50/126) had received former diagnostic results by karyotyping characteristic of normal human male or female karyotypes. Low-pass GS revealed additional chromosomal abnormalities in 50 (4.0%) couples, including eight with balanced translocations and 42 inversions. Follow-up studies of these couples showed a higher miscarriage/fetal-anomaly rate of 5/10 (50%) compared to 21/93 (22.6%) in couples with normal GS, resulting in a relative risk of 2.2 (95% confidence interval, 1.1 to 4.6). In these couples, this protocol significantly increased the diagnostic yield of chromosomal abnormalities per couple (11.7%) in comparison to chromosome analysis (8.0%, chi-square test p = 0.000751). In summary, low-pass GS identified underlying chromosomal aberrations in 1 in 9 RM-affected couples, enabling identification of a subgroup of couples with increased risk of subsequent miscarriage who would benefit from a personalized intervention.
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