ArticleMolecular cytogenetics2014
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.
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 20 papers.
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20 citing papers in PubMed, 91 citations in OpenAlex.
- Association between preconception serum homocysteine levels and early pregnancy loss in women with recurrent pregnancy loss.Archives of gynecology and obstetrics · 2026Article
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Sequence diversity lost in early pregnancy.Nature · 2025Article
- Chromosomal abnormalities of embryos from sporadic and recurrent miscarriages: a tertiary center experience.Molecular biology reports · 2025Article
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Genetic analysis of chorionic villus tissues in early missed abortions.Scientific reports · 2023Article
- Chromosomal analysis of 262 miscarried conceptuses: a retrospective study.BMC pregnancy and childbirth · 2022Article
- Article
- Factors associated with fetal karyotype in spontaneous abortion: a case-case study.BMC pregnancy and childbirth · 2022Article
- Copy Number Variation Analysis of Euploid Pregnancy Loss.Frontiers in genetics · 2022Article
- Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature.The application of clinical genetics · 2021Review
- Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy.Frontiers in genetics · 2021Article
- Association between fetal chromosomal abnormalities and the frequency of spontaneous abortions.Experimental and therapeutic medicine · 2020Article
- A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss.Frontiers in genetics · 2020Article
- Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification.Molecular cytogenetics · 2015Article
- Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.International journal of genomics · 2015Article
- 5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy.SpringerPlus · 2015Article
- Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping.Reproductive medicine and biologyArticle
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12 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA). We evaluated the benefit of CMA testing in cases of failed culture growth.
methodsConventional cytogenetic results of 5457 consecutive POC specimens were reviewed and categorized as placental villi, fetal parts, and unspecified POC tissue. The CMA was performed on 268 cases. Of those, 32 cases had concurrent G-banding results. The remaining 236 cases included 107 cases with culture failure and 129 cases evaluated by CMA alone.
resultsThe overall POC culture success rate was 75%, with the lowest for fetal parts (37.4%) and the highest for placental villi (81%). The abnormality rate was 58% for placental villi, but only 25% for fetal parts. Of the abnormalities detected, the most common were aneuploidies, including trisomy 16, triploidy, monosomy X, trisomy 22, trisomy 21 and trisomy 15, while the least encountered aneuploidies were trisomy 1, trisomy 19 and monosomies (except monosomy 21). Overall, POC specimens studied by CMA were successful in 89.6% of cases and yielded a 44.6% abnormality rate.
conclusionsPlacental villi yielded higher rates of culture success and a higher percentage of abnormal karyotypes than did other specimen types. The Oligo-SNP CMA method has demonstrated a viable alternative to the G-banding method in view of its advantages in detection of submicroscopic genomic aberrations, shorter turnaround time due to elimination of time required for culture and a higher test success rate.
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