Prenatal detection of monosomy 21 mosaicism

Prenat Diagn. 1993 Mar;13(3):163-9. doi: 10.1002/pd.1970130303.

Abstract

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Abortion, Therapeutic
  • Adult
  • Amniocentesis
  • Chromosomes, Human, Pair 21*
  • Echocardiography
  • Facial Bones / abnormalities
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Fetal Growth Retardation / diagnostic imaging
  • Fingers / abnormalities
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / genetics
  • Humans
  • Monosomy*
  • Mosaicism*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal