Clementi M, Tenconi R, Bianchi F, Stoll C
Genetica Clinica ed Epidemiologica, Università di Padova, Italy.
Prenat Diagn. 2000 Nov;20(11):870-5.
Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.
在大多数欧洲国家,妊娠中期的超声扫描如今已是产前护理的常规组成部分。利用先天性异常登记处的数据,在欧洲开展了一项研究。该研究的目的是评估唇裂伴或不伴腭裂(CL(P))以及腭裂(CP)的产前检测情况。从以下欧洲国家的20个先天性畸形登记处登记了1996 - 1998年期间产前疑似并在出生时确诊的所有CL(P)和CP病例:奥地利、克罗地亚、丹麦、法国、德国、意大利、立陶宛、西班牙、瑞士、荷兰、英国、乌克兰。这些登记处采用相同的方法。共涵盖709,027例出生病例;登记了7758例先天性畸形病例。纳入研究的有751例面部裂病例报告:553例CL(P)和198例CP。经腹超声对CL(P)的产前诊断在65/366例孤立畸形病例、32/62例染色体异常病例、30/89例多发畸形病例以及21/36例综合征病例中作出。对CP的产前诊断在13/198例病例中作出。100例妊娠终止(13%);其中97例唇裂与其他畸形相关。