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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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.
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.
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.
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.
Lathi RB, Milki AA. Tissue sampling technique affects accuracy of karyotype from missed abortions. J Assist Reprod Genet 2002;19 11:536–8.
Minelli E, Buchi C, Granata P, et al. Cytogenetic findings in echographically defined blighted ovum abortions. Ann Genet 1993;36 2:107–10.
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.
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.
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.
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.
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.
Wolf GC, Horger EO 3rd. Indications for examination of spontaneous abortion specimens: a reassessment. Am J Obstet Gynecol 1995;173 5:1364–8.
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.
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.
Lathi RB, Milki AA. Rate of aneuploidy in miscarriages following in vitro fertilization and intracytoplasmic sperm injection. Fertil Steril 2004;81 5:1270–2.
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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). https://doi.org/10.1007/s10815-007-9166-1
- Blighted ovum
- Anembryonic gestation