Exalto Niek, Cohen-Overbeek Titia E, van Adrichem Leon N A, Oudesluijs Gretel G, Hoogeboom A J M Jeannette, Wildschut Hajo I J
Erasmus MC-Centrum, Afd. Verloskunde en Vrouwenziekten, Rotterdam, The Netherlands.
Ned Tijdschr Geneeskd. 2009;153:B316.
An increasing number of pregnancies are presumed being terminated following prenatal detection of orofacial cleft during structural ultrasound.After examining the data and literature on this topic it is concluded that the reported cases are merely incidents. For the interpretation of prenatal detection rates a distinction should be made between isolated orofacial cleft and the frequently occurring associated form of orofacial cleft which is usually characterized by other, often major structural or chromosome anomalies. The ultrasound detection rate of the isolated form is low and varies in the literature between 18 and 56%. Together with all Dutch centres of prenatal medicine a care plan was adopted for the management of prenatally detected orofacial cleft including diagnosis (detailed ultrasound examination and karyotyping), medical support (genetic consultations, plastic surgery and psychosocial counselling) and treatment (obstetric and neonatal management). In the presence of associated major congenital anomalies termination of pregnancy may be considered before the 24th week of pregnancy.
在结构超声产前检测出唇腭裂后,越来越多的妊娠被推测会终止。在研究了关于该主题的数据和文献后得出结论,所报告的病例仅仅是个别事件。对于产前检测率的解读,应区分孤立性唇腭裂和常见的伴有其他异常的唇腭裂相关形式,后者通常以其他往往较为严重的结构或染色体异常为特征。孤立性唇腭裂的超声检测率较低,文献报道在18%至56%之间。荷兰所有产前医学中心共同采用了一项针对产前检测出唇腭裂的管理护理计划,包括诊断(详细超声检查和染色体核型分析)、医疗支持(遗传咨询、整形手术和心理社会咨询)以及治疗(产科和新生儿管理)。若伴有相关的严重先天性异常,可在妊娠24周前考虑终止妊娠。