Choroid plexus cysts in the mid-trimester fetus--practical application suggests superiority of an individualized risk method of counseling for trisomy 18

Prenat Diagn. 2002 Sep;22(9):792-7. doi: 10.1002/pd.411.

Abstract

Objectives: Analysis of a referral population of patients with choroid plexus cysts (CPCs) was performed to compare an average risk method of counseling to an individualized risk method.

Methods: A total of 395 patients referred to a Prenatal Diagnosis Center were included, of whom 341 had isolated CPCs and 54 had associated ultrasound abnormalities. For isolated CPCs, an average risk of 1/150 for aneuploidy was compared to an individualized risk assessment [prior risk as determined by maternal age or serum screening multiplied by the likelihood ratio established by Gupta et al. (1997)]. Accuracy, cost, and procedure-related losses were assessed.

Results: Both methods resulted in 100% sensitivity. The individualized method resulted in greater specificity, decreased costs, and (theoretically) fewer procedure-related pregnancy losses.

Conclusions: An individualized risk method of counseling utilizing the likelihood ratios established by Gupta et al. (1997) was superior to an average risk method for assessing trisomy 18 risk in the setting of CPC detected in mid-trimester.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / embryology
  • Brain Diseases / genetics*
  • Choroid Plexus / abnormalities*
  • Choroid Plexus / diagnostic imaging
  • Chromosomes, Human, Pair 18*
  • Cysts / diagnostic imaging
  • Cysts / genetics
  • Directive Counseling
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / embryology
  • Fetal Diseases / genetics*
  • Genetic Counseling / economics
  • Genetic Counseling / methods*
  • Humans
  • Pregnancy
  • Pregnancy Trimester, Second
  • Risk Assessment / economics
  • Risk Assessment / methods*
  • Sensitivity and Specificity
  • Trisomy / diagnosis*
  • Ultrasonography, Prenatal