Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy

Indian Pediatr. 2003 May;40(5):415-8.

Abstract

Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump from the deceased affected baby was used to confirm the diagnosis. Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Tissue Preservation*
  • Umbilical Cord*