Karyotype of the abortus in recurrent miscarriage

Fertil Steril. 2001 Apr;75(4):678-82. doi: 10.1016/s0015-0282(00)01801-x.


Objective: To assess the chromosomal aberrations in the abortus in recurrent miscarriage and the live birth rate after a euploid or aneuploid miscarriage.

Design: Retrospective analysis.

Setting: Tertiary referral unit in university hospital.

Patient(s): One hundred sixty-seven patients with 3 to 16 miscarriages before 20 weeks.

Intervention(s): Material collected at curettage from 167 abortuses was analyzed by standard G-banding techniques.

Main outcome measure(s): The incidence of aberrations and the outcome of the subsequent pregnancy were assessed according to the embryonic karyotype.

Result(s): In this study 125 specimens were successfully karyotyped. Of these, 29% (36 of 125) had chromosome aberrations; 94% of the aberrations were aneuploidy, and 6% were structural. The most prevalent anomalies were chromosome 16, 18, and 21 trisomies, triploidy, and monosomy X. After an aneuploid miscarriage, there was a 68% subsequent live birth rate (13 of 19) compared to the 41% (16 of 39) rate after a euploid abortion.

Conclusion(s): The low (29%) incidence of aberrations indicates that alternative mechanisms may be responsible for the majority of recurrent miscarriages. These figures provide a basis for assessing the efficacy of therapy for recurrent miscarriage. If further studies confirm that patients with karyotypically abnormal fetuses have a good prognosis, an informed decision can be made as to whether further investigations and treatment should be undertaken.

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Aneuploidy
  • Chromosome Aberrations*
  • Female
  • Fetus
  • Hospitals, University
  • Humans
  • Infant, Newborn
  • Israel
  • Karyotyping*
  • Middle Aged
  • Monosomy
  • Odds Ratio
  • Polyploidy
  • Pregnancy
  • Pregnancy Outcome
  • Retrospective Studies
  • Sex Chromosome Aberrations
  • Translocation, Genetic
  • Trisomy
  • X Chromosome