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Focus on Skeletal Anomalies Page 7 Nhs Fetal Anomaly Screening Programme Page 22 Congenital Anomaly Register & Information Service for Wales inside focus on skeletal anomalies page 7 nhs fetal anomaly screening programme page 22 online ar-y-we CAR S 2 | annual review CONGENITAL ANOMALY REGISTER & INFORMATION SERVICE Contents Summary 4 CARIS activity 2008 5 Focus on skeletal anomalies 7 Development of the skeleton 8 Skeletal dysplasias 9 Craniosynostosis 9 Developmental dysplasia of hip 14 Limb abnormalities 16 Congenital talipes equinovarus 17 Sirenomelia 19 Caudal regression 20 Achondroplasia 21 NHS fetal anomaly screening programme: relevance to Wales 22 CARIS champions 24 Designed by Ridler Webster Limited 01792 582100 Designed by Ridler Webster annual review | 3 CARIS, the Congenital Anomaly Register and Information Service for Wales, is based at Singleton Hospital, Swansea. It is funded by the Welsh Assembly Government and is part of Public Health Wales1. Foreword Welcome to the 2008 CARIS members of the Health Information annual review. and Analysis Team of the National Public Health Service for Wales This report includes a summary who have undertaken the main of congenital anomalies in Wales. annual data analyses. More detailed information and data tables are available from the CARIS Special thanks to Dr Colin Davies website www.wales.nhs.uk/caris2. for his contribution on the way This year we include a special focus forward in antenatal ultrasound. on various skeletal anomalies. Bethan Thomson kindly provided These will also be featured in our several of the illustrations in this 2009 annual meetings, along with report. a discussion on a new rationale for antenatal ultrasound. Margery Morgan, Lead Clinician Once again thank you to all Judith Greenacre, Director of contributing health professionals Information for your ongoing support. David Tucker, CARIS Manager We would also like to thank Tracy Price, Hugo Cosh and other online ar-y-we CAR S Write CARIS Office Level 3 West Wing Singleton Hospital SWANSEA SA2 8QA Phone 01792 285241 (WHTN 0 1883 6122) Fax 01792 285242 (WHTN 0 1883 6123) e-mail [email protected] The CARIS team. web www.wales.nhs.uk/caris We are (left to right) David Tucker, Margery Morgan, Published by Judith Greenacre, Val Vye and Helen Jenkins. CARIS ISBN ISBN 0-9563807-0-8 © CARIS 2009 1 From October 1st 2009. Public Health Wales is the new public health NHS trust for Wales 2 also accessible through the HOWIS (NHS Wales) website at www.howis.wales.nhs.uk/caris 4 | annual review CONGENITAL ANOMALY REGISTER & INFORMATION SERVICE Summary CARIS is the Welsh Congenital Anomaly Factors that can be shown to affect Register and Information Service. anomaly rates include maternal risk CARIS aims to provide reliable data on factors such as age and smoking. congenital anomalies in Wales. These data There is also an association with are used to assess: socioeconomic deprivation, particularly for non chromosomal Patterns of anomalies in Wales anomalies Possible clusters of birth defects Heart and circulatory defects are the and their causes largest group reported, followed by Antenatal screening / interventions anomalies of the urinary and Health service provision for affected musculoskeletal systems babies and children. For anomalies detected up to the We collect data on any baby or fetus born first birthday, approximately one third with a congenital anomaly and diagnosed of cases are detected antenatally, within the first year of life where the mother one third within the first week after end of pregnancy and the remaining was normally resident in Wales at the end of third later in infancy pregnancy. Some specific anomalies continue Key Points (1998 – 2008) to be investigated because of The following key points are based on eleven particularly high rates in Wales. years of data now available: These include gastroschisis and The gross3 rate of congenital isolated cleft palate. anomalies reported is 5.0% Interventions and services The rate of congenital anomalies for anomalies in live born babies is 4.3% rates of antenatal detection continue 85.4% of cases are live born and to improve in Wales, particularly for 96% of these survive to the end of heart defects their first year. Increasing complexity outcome data can be useful in of anomalies reduces the chance planning services and for parent of survival information. Reported congenital anomaly rates in Wales are often higher than for other areas of Europe or Britain Variations in rates are again seen around Wales. In part this is due to differences in reporting 3 The gross rate includes all cases of anomaly recorded as miscarriages, terminations of pregnancy, live and stillborn babies, per 10,000 live and still births. annual review | 5 CARIS activity 2008 The team continued to be involved with International projects in Wales, the United Kingdom and internationally. • David Tucker presented an update on Gastroschisis in Wales and led a workshop Wales on inpatient data at the European Collaboration of Congenital Anomaly • The Welsh Paediatric Surveillance Unit completed data collection on Registers (EUROCAT) meeting in Helsinki craniosynostosis for CARIS, a condition conference in Italy. for which there was potential for improved • CARIS attended the International reporting in Wales. Clearing House of Birth Defects Surveillance and Research (ICBDSR) • Annual meetings were held in Grand Theatre, Swansea and Wrexham Maelor annual meeting in Padua, Italy and Hospital. The special focus was on ten presented work by Dr Ciarán Humphreys years of CARIS data and what this tells (National Public Health Service for Wales) us about congenital anomalies in Wales. on the evaluation of a congenital anomaly register. CARIS also presented Presentation at the National Public Health • a poster on cystic fibrosis in Wales. Services Staff conference on public health aspects of congenital anomalies. Websites United Kingdom www.binocar.org.uk • CARIS continues to contribute to the www.eurocat.ulster.ac.uk British Isles Network of Congenital www.icbdsr.org Anomaly Registers (BINOCAR) executive group. • David Tucker continued to chair the BINOCAR clinical coding working group and presented the work of the group to the UK BINOCAR annual meeting in Leicester. • CARIS organised a CNS anomalies study day at the Norwegian Church, Cardiff, for clinicians and staff from other BINOCAR Registries. The day covered coding, anatomy and outcomes. • David Tucker gave a presentation on antenatal detection and outcomes for heart defects in Wales at the Tiny Tickers workshop organised by the Royal College of Obstetrics and Gynaecology (RCOG). 6 | annual review CONGENITAL ANOMALY REGISTER & INFORMATION SERVICE CARIS activity 2008 Publications in 2008 using • Emanuele Leoncini, Giovannni Baranello, Ieda Orioli. Goran Anneren, Marian CARIS data Bakker, Fabrizio Bianchi, Carol Bower, • Barisic I, Tokic V, Loane M, Bianchi F, Mark Canfield, Eduado Castilla, Guido Calzolari E, Garne E, Wellesley D, Dolk H Cocchi, Adolfo Correa, Catherine De and EUROCAT Working Group (2008), Vigan, Berenice Doray, Marcia Feldkemp, “Descriptive epidemiology of Cornelia de Mariam Gatt, Lorentz Irgens, R Brian Lange syndrome in Europe”, American Lowry, Alice Maraschini, Robert Journal of Medical Genetics Part A, Mcdonnell, Margery Morgan, Ovsvaldo Vol 146A, pp 51-59 Mutchinick, Simone Poetzch, Merilyn Riley, Annukka Ritvanen, Elisabeth • Boyd PA, de Vigan C, Khsohnood B, Robert-Gnansia, Gioacchino Scarano, Loane M, Garne E, Dolk H and the Antonin Sipek, Romano Tenconi, and EUROCAT Working Group (2008), Pierpaolo Mastroiacovo.“Frequency “Survey of prenatal screening policies in of holoprosencephaly in the International Europe for structure malformations and Clearinghouse Birth Defect Surveillance chromosome anomalies, and their Systems: Searcing for population impact on detection and termination variations.” Birth Defects Research rates for neural tube defects and Down (PartA) 82:585-591. syndrome”, BJOG, Vol 115, pp 689-696. [www.blackwell-synergy.com/doi/full/ 10.1111/j.1471-0528.2008.01700.x? prevSearch=allfield%3A%28Survey+of+ Prenatal+Screening+Policies%29]. • Dolk H, Jentink J, Loane M, Morris J, de Jong-van den Berg LTW and the EUROCAT Antiepileptic Drug Working Group (2008), “Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations”, Neurology, Vol 71, pp 714-722. • Pedersen RN, Garne E, Loane M, Korsholm L, Husby S and a EUROCAT Working Group (2008), “Infantile hypertrophic pyloric stenosis: A comparative study of incidence and other epidemiological characteristics in seven European regions”, J Matern fetal Neonatal Med, Vol 21, No 9, pp 599-604. annual review | 7 Focus on skeletal anomalies 8 | annual review CONGENITAL ANOMALY REGISTER & INFORMATION SERVICE Focus on skeletal anomalies Development of the skeleton Ultrasound assessment The formation of the skeleton involves the All women in Wales are offered a 18-20 laying down of bone in two different ways. week anomaly scan. This scan acts as a 1 ossification from cartilage – most of screen for any other problems which may the skeleton require more detailed study. 2 membranous ossification – clavicle and Screening bone assessment mandible Head – measure biparietal diameter and The complex development of the limbs is head circumference active between the 4th and 8th week of Femur – measure length, assess gestation (see figure 1). As we know from morphology the thalidomide story the fetus is very susceptible at this time to the effect of If a problem is found then a full survey adverse events.
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