Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study
Abstract
BACKGROUND: Reproductive loss carries immeasurable human costs as well as being costly to the health care system. The objectives of this study were to determine the frequency and distribution of cytogenetically abnormal miscarriages from couples with recurrent miscarriage and to compare the results with the general population. METHODS: A total of 420 specimens, including 29 pre-clinical, 237 embryonic and 154 fetal, were successfully karyotyped from 285 couples with recurrent miscarriage. The results were stratified according to maternal age and compared with controls. RESULTS: In all, 225 specimens (54%) were euploid. A total of 195 specimens (46%) were cytogenetically abnormal, of which 131 (66.5%) were trisomic, 37 (19%) were polyploid, 18 (9%) were monosomy X, eight (4%) were unbalanced translocations and one was a combination of trisomy 21 and monosomy X. The frequency of euploid miscarriages was significantly higher in women <36 years of age with recurrent miscarriage compared with controls. The distribution of cytogenetic abnormalities in the recurrent miscarriage group was not significantly different from controls, when stratified by maternal age. CONCLUSIONS: Women <36 years of age with recurrent miscarriage have a higher frequency of euploid miscarriage. When stratified for maternal age, there is no difference in the distribution of cytogenetically abnormal miscarriages in couples with recurrent miscarriage compared with controls.
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Developmental abnormalities of embryos not seen in live births are found in miscarriages with normal chromosomes.
“In addition, developmental abnormalities of embryos not seen in live births are found in miscarriages with normal chromosomes. 49,50”
From Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss (2021) · cites this paper as [49]
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- Authors
- Stephenson, M. D.
- Affiliations
- University of British Columbia (CA)
- Corresponding author
- Stephenson, M.D.
- ORCID
- Stephenson, M.D.
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-02-01
- Volume
- 17
- Issue
- 2
- Pages
- 446-451
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2110657082
- Cited by
- 522
- References
- 16
- Citations by year
- 2026: 10 · 2025: 16 · 2024: 8 · 2023: 14 · 2022: 15 · 2021: 30 · 2020: 30 · 2019: 18 · 2018: 57 · 2017: 24 · 2016: 29 · 2015: 20 · 2014: 22 · 2013: 15 · 2012: 24
- FWCI
- 4.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Reproductive System and Pregnancy
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- recurrent pregnancy loss, chromosomal abnormalities, karyology, trisomy, polyploidy, monosomy X, unbalanced translocation, maternal age
- MeSH terms
- Abortion, Spontaneous, Abortion, Habitual, Adult, Chromosome Aberrations, Female, Humans, Male, Maternal Age, Middle Aged, Ploidies, Translocation, Genetic, Incidence, Case-Control Studies, Age Distribution, Cytogenetic Analysis
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