Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene

Prenat Diagn. 1999 Jan;19(1):64-7. doi: 10.1002/(sici)1097-0223(199901)19:1<64::aid-pd464>3.0.co;2-z.

Abstract

Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced
  • Adult
  • Chorionic Villi / chemistry
  • Dystrophin / genetics*
  • Exons
  • Female
  • Humans
  • Male
  • Microsatellite Repeats
  • Minisatellite Repeats
  • Mosaicism*
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Placenta
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis*
  • Sequence Deletion*
  • X Chromosome*

Substances

  • Dystrophin