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Cytogenetic testing of anembryonic pregnancies compared to embryonic missed abortions



The objective of this study is to determine the rate of abnormalities detected by cytogenetic testing of first trimester miscarriages, in patients with and without an embryonic pole seen on ultrasound.

Materials and methods

A retrospective study of 272 D&Cs for missed abortions in an academic infertility practice from 1999 to 2006. Karyotype results were compared with transvaginal ultrasound findings. Chi-squared analysis was used with a P < 0.05 for significance.


There was a high rate of abnormal karyotypes in all miscarriages (65%). Rates of abnormal karyotypes were 58% and 68% in cases with anembryonic gestations and those with a fetal pole seen, respectively (P > 0.05).


The high rate of abnormalities detected in both groups suggests that useful results can be obtained from chromosomal testing of the POC regardless of ultrasound findings. Further studies on the prognostic value and cost effectiveness of chromosomal testing are needed.

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  1. Bessho T, Sakamoto H, Shiotani T, Komori S, Koyama K. Fetal loss in the first trimester after demonstration of cardiac activity: relation of cytogenetic and ultrasound findings. Hum Reprod 1995;10 10:2696–9.

    PubMed  CAS  Google Scholar 

  2. Eiben B, Bartels I, Bahr-Porsch S, et al. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 1990;47 4:656–63.

    PubMed  CAS  Google Scholar 

  3. Guerneri S, Bettio D, Simoni G, Brambati B, Lanzani A, Fraccaro M. Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod 1987;2 8:735–9.

    PubMed  CAS  Google Scholar 

  4. Hogge WA, Byrnes AL, Lanasa MC, Surti U. The clinical use of karyotyping spontaneous abortions. Am J Obstet Gynecol 2003;189 2:397–400; discussion 2.

    Article  PubMed  Google Scholar 

  5. Lathi RB, Milki AA. Tissue sampling technique affects accuracy of karyotype from missed abortions. J Assist Reprod Genet 2002;19 11:536–8.

    Article  PubMed  Google Scholar 

  6. Minelli E, Buchi C, Granata P, et al. Cytogenetic findings in echographically defined blighted ovum abortions. Ann Genet 1993;36 2:107–10.

    PubMed  CAS  Google Scholar 

  7. Strom CM, Ginsberg N, Applebaum M, et al. Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype. J Assist Reprod Genet 1992;9 5:458–61.

    Article  PubMed  CAS  Google Scholar 

  8. Spandorfer SD, Davis OK, Barmat LI, Chung PH, Rosenwaks Z. Relationship between maternal age and aneuploidy in in vitro fertilization pregnancy loss. Fertil Steril 2004;81 5:1265–9.

    Article  PubMed  Google Scholar 

  9. 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 2:274–7.

    Article  PubMed  CAS  Google Scholar 

  10. Carp H, Toder V, Aviram A, Daniely M, Mashiach S, Barkai G. Karyotype of the abortus in recurrent miscarriage. Fertil Steril 2001;75 4:678–82.

    Article  PubMed  CAS  Google Scholar 

  11. Ogasawara M, Aoki K, Okada S, Suzumori K. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril 2000;73 2:300–4.

    Article  PubMed  CAS  Google Scholar 

  12. Wolf GC, Horger EO 3rd. Indications for examination of spontaneous abortion specimens: a reassessment. Am J Obstet Gynecol 1995;173 5:1364–8.

    Article  PubMed  CAS  Google Scholar 

  13. Bell KA, Van Deerlin PG, Haddad BR, Feinberg RF. Cytogenetic diagnosis of “normal 46,XX” karyotypes in spontaneous abortions frequently may be misleading. Fertil Steril 1999;71 2:334–41.

    Article  PubMed  CAS  Google Scholar 

  14. Ford JH, Wilkin HZ, Thomas P, McCarthy C. A 13-year cytogenetic study of spontaneous abortion: clinical applications of testing. Aust N Z J Obstet Gynaecol 1996;36 3:314–8.

    PubMed  CAS  Google Scholar 

  15. Lathi RB, Milki AA. Rate of aneuploidy in miscarriages following in vitro fertilization and intracytoplasmic sperm injection. Fertil Steril 2004;81 5:1270–2.

    Article  PubMed  Google Scholar 

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Correspondence to Ruth B. Lathi.

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Lathi, R.B., Mark, S.D., Westphal, L.M. et al. Cytogenetic testing of anembryonic pregnancies compared to embryonic missed abortions. J Assist Reprod Genet 24, 521–524 (2007).

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  • Aneuploidy
  • Blighted ovum
  • Karyotype
  • Miscarriage
  • Anembryonic gestation