Nicolaides K H, Johansson D, Donnai D, Rodeck C H
Prenat Diagn. 1984 May-Jun;4(3):201-5. doi: 10.1002/pd.1970040307.
Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.
在妊娠中期，通过胎儿镜检查了4例有患常染色体显性遗传性特雷彻 - 柯林斯综合征风险的胎儿。其中2例检查结果正常，妊娠过程顺利，之后产下健康婴儿。另外2例胎儿可见下颌骨发育不全以及眼睑和耳廓异常；其中1例伴有腭裂。这些妊娠均被终止，尸检证实了诊断结果。
