Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes

Clin Genet. 1984 Jul;26(1):56-60. doi: 10.1111/j.1399-0004.1984.tb00789.x.


Fetoscopy was performed in three pregnancies at risk for the Majewski syndrome and in one pregnancy at risk for the Saldino-Noonan syndrome of the fetus. One case of Majewski syndrome and two normal fetuses were correctly diagnosed. In the remaining case the amniotic fluid was blood-stained and the fetus could not be visualized. Patients previously carrying a fetus with a Short Rib-Polydactyly syndrome of the Majewski or Saldino-Noonan types are at a high risk of recurrence (25%) and should be offered prenatal diagnosis in subsequent pregnancies. Polydactyly is consistently present in these syndromes, and is easily seen through the fetoscope. Fetoscopy offers a safe and instant diagnosis as early as 15-16 weeks of gestation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cleft Lip / diagnosis
  • Cleft Palate / diagnosis
  • Dwarfism / diagnosis*
  • Female
  • Fetoscopy
  • Fingers / abnormalities*
  • Gestational Age
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*
  • Ribs / abnormalities*
  • Syndrome
  • Toes / abnormalities*