Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

Prenat Diagn. 2003 Apr;23(4):319-22. doi: 10.1002/pd.590.


We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abortion, Eugenic
  • Adult
  • Chorionic Villi Sampling*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Maternal Age
  • Microsatellite Repeats / genetics
  • Models, Genetic
  • Mosaicism / diagnosis*
  • Pregnancy
  • Pregnancy, High-Risk