Adjahoto E O, De Grandi P, Maillard-Brignon C, Pescia G
Centre Hospitalier Universitaire Vaudois, Département de Gynécologie-Obstétrique, Lausanne.
J Gynecol Obstet Biol Reprod (Paris). 1992;21(8):928-33.
Concerned by 2 cases of a recurring multiple fetal malformation syndrome in a consanguineous couple, the authors present the ultrasonic, clinical and paraclinical data that, when introduced into a computerised prenatal diagnostic programme, suggest a Meckel-Gruber or Carpenter-Hunter syndrome. The discovery of single or multiple fetal malformations requires not only complete echographic assessment, but also detailed post-abortum examination to allow optimal use of diagnostic aid programmes.
鉴于一对近亲夫妇出现了两例复发性多胎儿畸形综合征病例，作者展示了超声、临床和辅助检查数据，将这些数据输入计算机化产前诊断程序后，提示为梅克尔-格鲁伯综合征或卡彭特-亨特综合征。发现单发性或多发性胎儿畸形不仅需要进行完整的超声评估，还需要进行详细的流产后检查，以便最佳地利用诊断辅助程序。
