The Status of Genetic Screening in Recurrent Pregnancy Loss

Obstet Gynecol Clin North Am. 2018 Mar;45(1):143-154. doi: 10.1016/j.ogc.2017.10.007.


Recurrent pregnancy loss is often idiopathic, but numerical and structural chromosomal abnormalities constitute an important cause. Numerical chromosomal abnormalities in the conceptus are primarily due to meiotic nondisjunction; the rate and complexity of embryonic aneuploidy are driven by female age. Structural chromosomal abnormalities (balanced translocations or inversions) can lead to unbalanced gametes depending on specific recombination and segregation patterns during meiosis. The attendant reproductive risk depends on the type of rearrangement and its parental origin. Current methods for analysis of products of conception include cytogenetics, array comparative genomic hybridization, and single nucleotide polymorphism microarray; each platform has advantages and disadvantages.

Keywords: Aneuploidy; Comprehensive chromosomal screening; IVF; Inversion; Miscarriage; Preimplantation genetic screening; Products of conception; Spontaneous abortion.

Publication types

  • Review

MeSH terms

  • Abortion, Habitual / genetics*
  • Chromosome Aberrations
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing*
  • Humans
  • Pregnancy