Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

Prenat Diagn. 1998 Jan;18(1):45-50. doi: 10.1002/(sici)1097-0223(199801)18:1<45::aid-pd216>3.0.co;2-c.

Abstract

We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chorionic Villi Sampling
  • Chromosomes, Human, Pair 13*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Maternal Age
  • Mosaicism*
  • Pregnancy
  • Pregnancy, High-Risk
  • Prenatal Diagnosis*
  • Trisomy*