Ensing S, Kleinrouweler C E, Maas S M, Bilardo C M, Van der Horst C M A M, Pajkrt E
Academic Medical Centre, Department of Obstetrics and Gynecology, Amsterdam, The Netherlands.
Ultrasound Obstet Gynecol. 2014 Aug;44(2):154-9. doi: 10.1002/uog.13291.
To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL ± P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diagnosis of facial clefts.
This was a retrospective cohort study of consecutive cases of CL ± P diagnosed in 2001-2010 in the referral region of the Academic Medical Centre. Cases diagnosed prenatally were identified from the hospital's database. These data, grouped according to the periods before and after the introduction of the routine 20-week anomaly scan, were compared with data of all cases managed by the multidisciplinary cleft team, which services the same region, to identify cases of CL ± P that were not seen prenatally.
We identified 123 cases of CL ± P diagnosed prenatally, of which 76% (93/123) were diagnosed before 24 weeks. In one case, the CL ± P was not confirmed after birth. There were 46 cases with associated structural anomalies and 76 isolated cases. The median gestational age at diagnosis decreased by 2 weeks after 2007 (P = 0.02). The proportion of isolated clefts detected prenatally increased significantly after 2007 (P < 0.0001), whereas the proportion of associated clefts remained stable over the years (P = 0.426). The overall detection rate of CL ± P increased from 43% before 2007 to 86% after 2007 (P < 0.0001), without an increase in terminations of pregnancy.
Introduction of the routine fetal anomaly scan has decreased the gestational age at diagnosis of CL ± P and has increased the proportion diagnosed prenatally, without a significant change in the number of terminations of pregnancy.
调查2007年荷兰引入20周畸形扫描前后，胎儿唇裂伴或不伴腭裂（CL±P）的产前诊断及终止妊娠率的变化趋势，并评估该扫描对唇腭裂诊断的准确性。
这是一项对2001年至2010年在学术医疗中心转诊区域诊断出的连续CL±P病例的回顾性队列研究。通过医院数据库识别产前诊断的病例。这些数据根据常规20周畸形扫描引入前后的时期进行分组，并与为同一区域服务的多学科腭裂团队管理的所有病例数据进行比较，以识别未产前诊断出的CL±P病例。
我们识别出123例产前诊断为CL±P的病例，其中76%（93/123）在24周前被诊断出。1例病例出生后唇腭裂未得到证实。有46例伴有结构异常，76例为孤立病例。诊断时的中位孕周在2007年后下降了2周（P = 0.02）。2007年后产前检测出的孤立性腭裂比例显著增加（P < 0.0001），而多年来伴有其他异常的腭裂比例保持稳定（P = 0.426）。CL±P的总体检测率从2007年前的43%提高到2007年后的86%（P < 0.0001），而终止妊娠的数量没有增加。
常规胎儿畸形扫描的引入降低了CL±P的诊断孕周，提高了产前诊断的比例，而终止妊娠的数量没有显著变化。
