Congenital clubfoot in Europe: A population-based study

被引:32
作者
Wang, Hao [1 ]
Barisic, Ingeborg [2 ]
Loane, Maria [3 ]
Addor, Marie-Claude [4 ]
Bailey, Linda M. [5 ]
Gatt, Miriam [6 ]
Klungsoyr, Kari [7 ,8 ]
Mokoroa, Olatz [9 ]
Nelen, Vera [10 ]
Neville, Amanda J. [11 ,12 ]
O'Mahony, Mary [13 ]
Pierini, Anna [14 ]
Rissmann, Anke [15 ]
Verellen-Dumoulin, Christine [16 ]
de Walle, Hermien E. K. [17 ]
Wiesel, Awi [18 ]
Wisniewska, Katarzyna [19 ]
de Jong-van den Berg, Lolkje T. W. [1 ]
Dolk, Helen [3 ]
Khoshnood, Babak [20 ]
Garne, Ester [21 ]
机构
[1] Univ Groningen, Dept PharmacoTherapy Epidemiol & Econ PTEE, Div Groninger Res Inst Pharm GRIP, Belfast, Antrim, North Ireland
[2] Univ Zagreb, Dept Med Genet & Reprod Hlth, Childrens Hosp Zagreb, Sch Med, Zagreb, Croatia
[3] Ulster Univ, Inst Nursing & Hlth Res, Coleraine, Londonderry, North Ireland
[4] Univ Hosp Ctr CHUV, Dept Woman Mother Child, Lausanne, Switzerland
[5] Publ Hlth UK NHS Trust, Congenital Anomaly Register & Informat Serv Wales, Swansea, W Glam, Wales
[6] Directorate Hlth Informat & Res, Tal Pieta, Malta
[7] Univ Bergen, Div Mental & Phys Hlth, Norwegian Inst Publ Hlth, Bergen, Norway
[8] Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway
[9] Directorate Hlth Informat & Res, Malta Congenital Anomalies Register, Guardamangia, Malta
[10] Prov Inst Hyg, Prov Antwerp Dept Environm, Antwerp, Belgium
[11] Univ Ferrara, IMER Registry, Ctr Clin & Epidemiol Res, Ferrara, Italy
[12] Azienda Osped Univ Ferrara, Ferrara, Italy
[13] Hlth Serv Execut South, Dept Publ Hlth, Dublin, Ireland
[14] Fdn Toscana Gabriele Monasterio, Tuscany Registry Congenital Defects, Inst Clin Physiol, Natl Res Council, Pisa, Italy
[15] Otto von Guericke Univ, Malformat Monitoring Ctr Saxony Anhalt, Fac Med, Magdeburg, Germany
[16] Inst Pathol & Genet, Ctr Human Genet, Charleroi, Belgium
[17] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[18] Univ Med Ctr Mainz, Dept Pediat, Birth Registry Mainz Model, Mainz, Germany
[19] Poznan Univ Med Sci, Dept Prevent Med, Epidemiol Unit, Poznan, Poland
[20] Paris Descartes Univ, INSERM,DHU Risks Pregnancy, UMR 1153,Ctr Res Epidemiol & Stat,Sorbonne Paris, Obstet Perinatal & Pediat Epidemiol Res Team EPOP, Paris, France
[21] Hosp Lillebaelt Kolding, Dept Paediat, Kolding, Denmark
关键词
associated anomalies; congenital lubfoot; prenatal diagnosis; prevalence; trend; IDIOPATHIC TALIPES EQUINOVARUS; PRENATAL ULTRASOUND DETECTION; NONSELECTED POPULATION; OROFACIAL CLEFT; LAMOTRIGINE USE; RISK; PREGNANCY; EPIDEMIOLOGY; MALFORMATIONS;
D O I
10.1002/ajmg.a.61067
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10-1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05-1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90-0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population-based study found a decreasing trend of congenital clubfoot in Europe after 1999-2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.
引用
收藏
页码:595 / 601
页数:7
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