ArticleMolecular cytogenetics2014
Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature.
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 15 papers.
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15 citing papers in PubMed, 45 citations in OpenAlex.
- MAD1L1 and MAD2L1 genes variants in spontaneous miscarriage with aneuploidy.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
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- A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.Molecular cytogenetics · 2022Article
- High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population.Archives of gynecology and obstetrics · 2022Article
- Sperm selection with hyaluronic acid improved live birth outcomes among older couples and was connected to sperm DNA quality, potentially affecting all treatment outcomes.Human reproduction (Oxford, England) · 2022Article
- Comparative clinical genetic testing in spontaneous miscarriage: Insights from a study in Southern Chinese women.Journal of cellular and molecular medicine · 2021Article
- Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.Molecular medicine reports · 2018Article
- Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.Journal of assisted reproduction and genetics · 2018Article
- Frequency of Chromosomal Abnormalities in Products of Conception.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2017Observational
- Differences in pregnancy outcomes in donor egg frozen embryo transfer (FET) cycles following preimplantation genetic screening (PGS): a single center retrospective study.Journal of assisted reproduction and genetics · 2017Article
- Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss.Journal of human genetics · 2016Article
- Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.Molecular medicine reports · 2016Article
- Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures.Molecular cytogenetics · 2016Article
- 1(st) trimester miscarriage: four decades of study.Translational pediatrics · 2015Review
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Abstract
backgroundIn a review of the literature in 2000 the different cytogenetic aspects of spontaneous miscarriages were well documented. This review also included the spontaneous miscarriage results of one large German study published in 1990. However, to our knowledge there are no new data on spontaneous miscarriages in the German population. Therefore, the aim of the present retrospective large study was to find out the incidence and types of chromosome aberrations in an unselected series of spontaneous miscarriages in the German population, and whether our more recent results were different to data published previously. In case of culture failure we implemented a quantitative fluorescent polymerase chain reaction (QF-PCR) for chromosomes 13, 18, 21, X and Y.
resultsIn the present German retrospective study cytogenetic analysis (CA) was attempted on 534 spontaneous miscarriages between weeks 7 and 34 of gestation, being successful in 73% (390/534) of them. Two hundred and thirty-seven of the cases (61%, 237/390) were chromosomally abnormal. Trisomy was the most common chromosome aberration and accounted for 53% (125/237) of the aberrant karyotypes. A multiple aneuploidy was observed in 7% (17/237) of the aberrant karyotypes. Chromosomes 16, 22, 15 and 21 were found most frequently involved in aneuploidies. Fifty-four cases (23%, 54/237) with a polyploidy were found in the present study. Single unbalanced structural chromosome aberrations accounted for 4% (10/237) of the aberrant karyotypes. Eleven samples (5%, 11/237) displayed a variety of numerical and/or structural chromosome aberrations. One hundred and forty-four spontaneous miscarriages (27%, 144/534) failed to grow in culture. A total of 27 cases were analysed by QF-PCR for chromosomes 13, 18, 21, X and Y, being informative in all cases.
conclusionIn our German retrospective large study of spontaneous miscarriages, the incidence and types of chromosome aberrations by CA are within the reported range of other studies published previously before and after 2000. Therefore, we can conclude that cytogenetic aspects of spontaneous miscarriages have not changed over the years. Additionally 8 of 27 cases (30%) without cell growth showed a numerical chromosome aberration by QF-PCR. Therefore QF-PCR played an important role as a supplementary test when culture failure occurred.
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