Invasive testing for the karyotyping of mid-trimester intrauterine fetal death (IUFD): a pilot study

Prenat Diagn. 2002 Jun;22(6):453-5. doi: 10.1002/pd.339.

Abstract

Introduction: Aneuploidy remains a common cause of fetal loss after the first trimester. Conventional karyotyping from fetal solid tissues post-delivery unfortunately has a poor success rate particularly where the fetus is macerated. To overcome this we obtained amniocentesis and/or chorionic villus samples from mid-trimester intrauterine fetal deaths (IUFDs) prior to medical termination of pregnancy.

Subjects: Ten women with diagnosed IUFD between 12 and 24 weeks' gestation underwent amniocentesis and/or CVS performed after counselling.

Results: Successful karyotypes were obtained in all pregnancies. Five of the ten pregnancies were complicated by aneuploidy (two with trisomy 21, two with trisomy 18, and one with trisomy 13).

Conclusion: The high rate of aneuploidy (50%) in this small cohort emphasises the need for karyotyping. A successful karyotype in all ten pregnancies demonstrates the value of offering these procedures before a termination of pregnancy. We would recommend the adoption of this approach in the management of IUFD occurring after the first trimester.

MeSH terms

  • Adolescent
  • Adult
  • Amniocentesis*
  • Chorionic Villi Sampling*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Down Syndrome / genetics
  • Female
  • Fetal Death / genetics*
  • Gestational Age*
  • Humans
  • Karyotyping / methods*
  • Pilot Projects
  • Pregnancy
  • Trisomy