Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Eur J Hum Genet. 2013 Oct;21(10):1035-41. doi: 10.1038/ejhg.2013.9. Epub 2013 Feb 6.

Abstract

Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21 of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were ~twice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an ~50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.

Publication types

  • Evaluation Study

MeSH terms

  • Abortion, Spontaneous / diagnosis
  • Abortion, Spontaneous / genetics
  • Adult
  • Chromosome Segregation
  • Cohort Studies
  • Female
  • Genetic Testing*
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pregnancy
  • Preimplantation Diagnosis*
  • Prospective Studies
  • Translocation, Genetic*