Reproductive outcome after chromosome analysis in couples with two or more miscarriages: case-control study
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OBJECTIVE: To compare reproductive outcomes in couples carrying a structural chromosome abnormality and non-carrier couples referred for chromosome analysis after two or more miscarriages. DESIGN: Index [corrected]-control study. SETTING: Six centres for clinical genetics in the Netherlands. PARTICIPANTS: 278 carrier couples and 427 non-carrier couples referred for chromosome analysis between 1992 and 2000 after two or more miscarriages before 20 weeks of gestation. Couples were followed up for at least 24 months after chromosome analysis. MAIN OUTCOME MEASURES: The birth of at least one healthy child, at least one more miscarriage, and viable offspring with unbalanced chromosomal abnormalities after parental chromosome analysis. RESULTS: Mean follow-up after chromosome analysis was 5.8 years. 120 of 247 (49%) carrier couples had one or more miscarriage after chromosome analysis compared with 122 of 409 (30%) non-carrier couples (difference 19%, 95% confidence interval 11% to 26%; P < 0.01). The percentage of couples with at least one healthy child was not significantly different in carrier couples (83%) and non-carrier couples (84%) (difference -1%, - 7% to 5%). Among 550 pregnancies in carrier couples, two viable unbalanced chromosome abnormalities were detected at prenatal diagnosis (0.4%) and the fetuses aborted and two children with an unbalanced karyotype were born (0.4%). CONCLUSIONS: Couples whose carrier status was ascertained after two or more miscarriages have a low risk of viable offspring with unbalanced chromosomal abnormalities. Their chances of having a healthy child are as high as non-carrier couples, despite a higher risk of miscarriage.
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There is a low risk of parents with balanced translocations having a pregnancy with an unbalanced karyotype surviving into the second trimester (0.8%) or a disabled child born with an unbalanced chromosome abnormality (0.02%).
“Studies, however, have reported a low risk of parents with balanced translocations having a pregnancy with an unbalanced karyotype surviving into the second trimester (0.8%) or a disabled child born with an unbalanced chromosome abnormality (0.02%).49,50”
From Recurrent MiscarriageGreen‐top Guideline No. 17 (2023) · cites this paper as [49]
The Implications section (page unavailable) reports a low risk in carrier couples after recurrent miscarriage: 0.4% of pregnancies had an unbalanced karyotype detected prenatally and were terminated, and 0.4% resulted in severely handicapped children being born. Together these total 0.8%, but the paper does not describe that figure as the risk of survival into the second trimester; it reports 0.4%, not 0.02%, for affected children born. (LLM, conf=0.90)
Experimental — accuracy not yet measuredMiscarriage rates for parents with reciprocal translocations, inversions, Robertsonian translocations, and other types of chromosomal anomalies have been shown to be 54%, 49%, 34% and 27% respectively.
“miscarriage rates for parents with reciprocal translocations, inversions, Robertsonian translocations, and other types of chromosomal anomalies have been shown to be 54%, 49%, 34% and 27% respectively.49”
From Recurrent MiscarriageGreen‐top Guideline No. 17 (2023) · cites this paper as [49]
In a study by Franssen et al., parents with a balanced structural chromosome abnormality had a higher chance of a subsequent miscarriage compared with control couples (49% versus 30%; P < 0.01), although overall chances of having a healthy child were similar (83% versus 84%).
“In a study by Franssen et al., 49 although overall the chances of parents with a balanced structural chromosome abnormality having a healthy child was found to be 83%, which was similar to the control couples (84%), the former had a higher chance of a subsequent miscarriage compared with the latter group (49% versus 30%; P < 0.01)”
From Recurrent MiscarriageGreen‐top Guideline No. 17 (2023) · cites this paper as [49]
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- Authors
- Franssen, M. T. M., Korevaar, J. C., van der Veen, F., Leschot, N. J., Bossuyt, P. M. M., & Goddijn, M.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- Franssen, Maureen T M
- Venue
- BMJ
- Publisher
- BMJ
- Published
- 2006-02-22
- Volume
- 332
- Issue
- 7544
- Pages
- 759-763
- ISSN
- 0007-1447 (ISSN-L)
- 0959-8138
- 1468-5833
- PMC
- PMC1420685
- OpenAlex
- W2099861117
- Cited by
- 159
- References
- 21
- Citations by year
- 2026: 5 · 2025: 3 · 2024: 3 · 2023: 8 · 2022: 5 · 2021: 12 · 2020: 5 · 2019: 5 · 2018: 11 · 2017: 9 · 2016: 13 · 2015: 5 · 2014: 10 · 2013: 10 · 2012: 9
- FWCI
- 6.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- BMJ (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- ZonMw
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Immunology and Microbiology › Immunology › Reproductive System and Pregnancy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- recurrent pregnancy loss, structural chromosomal abnormalities, carrier couples, reproductive outcomes, prenatal diagnosis, karyotype, pregnancy outcomes
- MeSH terms
- Abortion, Habitual, Adult, Chromosome Aberrations, Female, Follow-Up Studies, Heterozygote, Humans, Male, Maternal Age, Pregnancy, Pregnancy Outcome, Risk Factors, Case-Control Studies
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