Mixoploidy: perinatal diagnosis and pregnancy outcome

Am J Perinatol. 2010 Sep;27(8):599-602. doi: 10.1055/s-0030-1249361. Epub 2010 Mar 16.

Abstract

Mixoploidy is rare chromosomal disorder characterized by multiple cell lines, usually including triploidy, within tissues. Pregnancy outcome has generally been considered poor with congenital anomalies and developmental delay reported in postnatally diagnosed cases. We report on two cases of abnormal midtrimester ultrasound showing placental abnormalities. Karyotype assessment showed mixoploidy, and both cases had satisfactory pregnancy outcome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology
  • Abnormalities, Multiple / therapy
  • Adult
  • Aneuploidy*
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / physiopathology
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Organ Specificity
  • Placenta Diseases / genetics*
  • Placenta Diseases / pathology
  • Placenta Diseases / physiopathology
  • Pregnancy
  • Pregnancy Outcome / genetics
  • Pregnancy Trimester, Second / physiology
  • Prenatal Diagnosis*