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Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population.

Methods

Retrospective analysis of cytogenetics obtained by chorionic villi harvesting of the first miscarriage cycle of infertile patients at our center from 2001–2010 were reviewed. Abnormal results were characterized as trisomy, monosomy X, structural, or other. Age, # of eggs, #2PN, # embryos transferred, day of transfer, and performance of intracytoplasmic sperm injection (ICSI) were recorded.

Results

In a study population of 299 patients with a mean age of 38.0 ± 4.5 y, 276(92 %) patients had some form of assisted reproductive technologies (ART), and 244(82 %) had IVF. Of all results, 71.6 % had an abnormal karyotype. Patients with abnormal cytogenetics were older (38.6 ± 4.1 vs. 36.3 ± 4.9, p < 0.001), and more likely to have a day 3 transfer (age < 38 ( 20.7 %) vs. age 38 (46.3 %), p = <0.001) with more embryos transferred (3.0 ± 1.2, vs. 2.3 ± 0.9, p < 0.001). The performance of ICSI did not affect the rate of cytogenetically abnormal products of conception (ICSI 68.3 % vs. no ICSI 70.7 %). In comparing patients, monosomy X was more common in <38 y. Rates of trisomy, although not statistically significant, were higher in older patients.

Conclusions

The classic associations between advancing age and chromosomal abnormalities, and younger age and monosomy X, are affirmed in our infertile population. There was no increase in chromosomal abnormalities in cycles where ICSI was performed. Older patients are more likely to have day 3 transfers and more embryos transferred. Our chromosomal abnormality rates are higher than classic estimates but comparable to recent studies. The limitation of this study was a lack in uniformity among practitioners in recommending all patients have a Dilation and Curettage (D&C) at time of diagnosis. Such information may serve to improve the counseling of patients after miscarriage.

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References

  1. Bettio D, Venci A, Levi Setti PE. Chromosomal abnormalities in miscarriages after different assisted reproduction procedures. Placenta. 2008;29(Suppl B):126–8.

    Article  PubMed  Google Scholar 

  2. Brandes M, Verzijden JC, Hamilton CJ, et al. Is the fertility treatment itself a risk factor for early pregnancy loss? Reprod Biomed Online. 2011;22:192–9.

    Article  PubMed  CAS  Google Scholar 

  3. Campana M, Serra A, Neri G. Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet. 1986;24:341–56.

    Article  PubMed  CAS  Google Scholar 

  4. Causio F, Fischetto R, Sarcina E, Geusa S, Tartagni M. Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Eur J Obstet Gynecol Reprod Biol. 2002;105:44–8.

    Article  PubMed  Google Scholar 

  5. Hagman A, Wennerholm UB, Kallen K, et al. Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics. Hum Reprod. 2010;25:1553–60.

    Article  PubMed  CAS  Google Scholar 

  6. Hassold T, Chen N, Funkhouser J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980;44:151–78.

    Article  PubMed  CAS  Google Scholar 

  7. Kim JW, Lee WS, Yoon TK, et al. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment. BMC Med Genet. 2010;11:153.

    Article  PubMed  CAS  Google Scholar 

  8. Morales C, Sanchez A, Bruguera J, et al. Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities. Am J Med Genet A. 2008;146A:66–70.

    Article  PubMed  Google Scholar 

  9. Northrop LE, Treff NR, Levy B, Scott Jr RT. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod. 2010;16:590–600.

    Article  PubMed  CAS  Google Scholar 

  10. Schmidt-Sarosi C, Schwartz LB, Lublin J, Kaplan-Grazi D, Sarosi P, Perle MA. Chromosomal analysis of early fetal losses in relation to transvaginal ultrasonographic detection of fetal heart motion after infertility. Fertil Steril. 1998;69:274–7.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

Alan Berkeley, MD

Nicole Noyes, MD

Frederick Licciardi, MD

David L. Keefe, MD

M. Elizabeth Fino, MD

Lisa M. Kump-Checchio, MD

The NYU School of Medicine and Departments of Fertility, Pathology, and Obstetrics and Gynecology

Funding

None.

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Authors

Corresponding author

Correspondence to Marie Werner.

Additional information

Capsule

The incidence of fetal chromosal abnormalities in an infertile population are higher than for the general population, as evidenced by analysis of products of conception.

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Werner, M., Reh, A., Grifo, J. et al. Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population. J Assist Reprod Genet 29, 817–820 (2012). https://doi.org/10.1007/s10815-012-9781-3

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  • DOI: https://doi.org/10.1007/s10815-012-9781-3

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