Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Prenat Diagn. 2000 Oct;20(10):811-8. doi: 10.1002/1097-0223(200010)20:10<811::aid-pd927>3.0.co;2-j.
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 limb reduction deficiencies (LRD) by routine ultrasonographic examination of the fetus. All LRDs suspected prenatally and all LRDs (including chromosome anomalies) confirmed at birth were identified from 20 Congenital Malformation Registers from the following 12 European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries are following the same methodology. During the study period (1996-98) there were 709,030 births, and 7,758 cases with congenital malformations including LRDs. If more than one LRD was present the case was coded as complex LRD; 250 cases of LRDs with 63 (25.2%) termination of pregnancies were identified including 138 cases with isolated LRD, 112 with associated malformations, 16 with chromosomal anomalies and 38 non chromosomal recognized syndromes. The prenatal detection rate of isolated LRD was 24.6% (34 out of 138 cases) compared with 49.1% for associated malformations (55 out of 112; p<0.01). The prenatal detection of isolated terminal transverse LRD was 22.7% (22 out of 97), 50% (3 out of 6) for proximal intercalary LRD, 8.3% (1 out of 12) for longitudinal LRD and 0 for split hand/foot; for multipli-malformed children with LRD those percentages were 46.1% (30 out of 65), 66.6% (6 out of 9), 57.1% (8 out of 14) and 0 (0 out of 2), respectively. The prenatal detection rate of LRDs varied in relation with the ultrasound screening policies from 20.0% to 64.0% in countries with at least one routine fetal scan.
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。该研究的目的是通过对胎儿进行常规超声检查来评估肢体短小缺陷（LRD）的产前检测情况。从以下12个欧洲国家的20个先天性畸形登记处中，识别出所有产前疑似的LRD以及所有出生时确诊的LRD（包括染色体异常）：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、英国和乌克兰。这些登记处采用相同的方法。在研究期间（1996 - 1998年），共有709,030例出生，7,758例先天性畸形病例，其中包括LRD。如果存在不止一处LRD，则该病例被编码为复杂LRD；共识别出250例LRD病例，其中63例（25.2%）终止妊娠，包括138例孤立性LRD、112例伴有相关畸形、16例染色体异常以及38例非染色体公认综合征。孤立性LRD的产前检测率为24.6%（138例中的34例），而伴有相关畸形的检测率为49.1%（112例中的55例；p<0.01）。孤立性末端横向LRD的产前检测率为22.7%（97例中的22例），近端间插性LRD为50%（6例中的3例），纵向LRD为8.3%（12例中的1例），并指/趾畸形的检测率为0；对于伴有LRD的多发畸形儿童，这些百分比分别为46.1%（65例中的30例）、66.6%（9例中的6例）、57.1%（14例中的8例）和0（2例中的0例）。在至少进行一次常规胎儿扫描的国家中，LRD的产前检测率因超声筛查政策而异，从20.0%到64.0%不等。
