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

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Abstract
Fetoscopy was performed in 3 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 2 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 wk of gestation.