Toftager-Larsen K, Benzie R J
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.
对3例有马耶夫斯基综合征风险的妊娠以及1例有胎儿萨尔迪诺-努南综合征风险的妊娠进行了胎儿镜检查。正确诊断出1例马耶夫斯基综合征和2例正常胎儿。在其余病例中，羊水被血染，无法看清胎儿。既往怀有马耶夫斯基或萨尔迪诺-努南型短肋多指综合征胎儿的患者复发风险很高（25%），在随后的妊娠中应提供产前诊断。多指在这些综合征中始终存在，通过胎儿镜很容易看到。胎儿镜检查可在妊娠15至16周时提供安全且即时的诊断。
