Abstracts / European Journal of Medical Genetics 61 (2018) 565e573 567

Netherlands; 2 Department of Surgery - Paediatric surgery, Radboudumc (72.8%) and 227 control mothers (82.2%) reported any folic acid supple-
Amalia Children’s Hospital, Nijmegen, the Netherlands; 3 Centre for ment use during the periconceptional period, which showed a reduced OR
Maternal, Fetal and lnfant Research, lnstitute of Nursing and Health of 0.7 with rather wide confidence interval (95%CI 0.4e1.4).
Research, Ulster University, Belfast, Northern lreland, UK; 4 Children's Conclusions: According to this study, it seems that maternal smoking
Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia; during the periconceptional period is associated with the VACTERL asso-
5
Eurocat Northern Netherlands, Department of Genetics, University of ciation, but folic acid supplement use not.
Groningen, University Medical Center Groningen, Groningen, the Netherlands Funding source: This project was funded by the Radboud University
Medical Center, the Netherlands, Nijmegen.
Background: The VACTERL association (non-random association of mini-
mal 3 birth defects: vertebral, anorectal, cardiac, tracheal-esophageal, renal, CONGENITAL ANOMALIES: PARENTS' CONCERNS AND OPINIONS
and limb) occurs in 1 per 20,000 pregnancies. Few studies described the TOWARDS PUBLIC HEALTH POLICIES AND IMPROVED EFFECTIVENESS
heterogeneity of VACTERL patients, e.g. one study showed the combination OF HEALTH SERVICES
of vertebral, cardiac and renal anomalies as strongest cluster. But, these
studies were small and sampling bias may have occurred, including patients Ana Joa ~o Santos 1, Paula Braz 1, Ausenda Machado 1, Carlos Matias
with at least anorectal or tracheal-oesophageal birth defects. Therefore, the Dias 1, 2. 1 Department de Epidemiologia, Instituto Nacional de Saúde Doutor
aim was to map the heterogeneity in a large group of registry-based VAC- Ricardo Jorge, Lisboa, Portugal; 2 CISP e Centro de Investigaça ~o em Saúde
TERL patients. Few studies were performed on environmental risk factors, Pública, Escola Nacional de Saúde Pública, Universidade Nova, Lisboa,
which identified maternal diabetes and assisted reproductive techniques Portugal
(ART) as risk factors (mainly based on case-reports). The second aim was to
study the association between maternal diabetes, ART and the VACTERL Background: The changes deriving from the birth of a child with a
association in a thus far largest case-control study. Congenital anomaly (CA) or Cerebral Palsy (CP) implies not only new
Methods: Patients registered as VATER/VACTERL within EUROCAT were emotional demands resulting from the child's condition, but in many cases
included to study the heterogeneity of VACTERL phenotypes. Question- an increase of interactions with health services and professionals. Health
naires were send to individual registries to obtain information on how services and health policies must acknowledge and offer the opportunity
VACTERL patients are registered. Frequencies of component features and for the family to define its own problems.
combinations of birth defects will be compared with literature. Malformed Methods: The cross-sectional descriptive qualitative study was conducted
chromosomal/syndromic patients are included as controls, to study the with a convenience sample of parents of children diagnosed with four
association between VACTERL and maternal risk factors. Information on groups of CA (severe heart anomalies; spina bifida; orofacial clefts and
pregnancy-related, lifestyle, and other maternal risk factors was obtained Down syndrome) and/or CP. A semi-structured online questionnaire to be
from EUROCAT. answered by parents was sent by web link to focal points of five parents
Results/Conclusions: This study used population-based EUROCAT data associations and professional institutions in Portugal. Data was analysed
from 29 registries, years 1980e2015, and includes 543 VACTERL patients. through thematic content analysis (open-ended questions) and descriptive
Questionnaire data showed broad consensus (e.g. diagnosis by clinical analysis (closed-ended questions).
geneticist) amongst individual registries on patient registration. The study Results: Families feel professionals should recognise the importance of
is in progress, results will be shown at the symposium. obtaining more complete and accurate information about the child's
Funding source: This project is funded by the Radboud University Medical diagnosis. Health services were perceived as displaced and unordered,
Center, the Netherlands, Nijmegen. since parents indicate a lack of multidisciplinary interventions and lack of
coordination or communication between professionals. Nonetheless, par-
MATERNAL SMOKING AND LACK OF FOLIC ACID SUPPLEMENT USE ents felt overall confident on the health care provided and on the
DURING THE PERICONCEPTIONAL PERIOD AS RISK FACTORS FOR THE “training” they get to care for their children deriving from the interactions
VACTERL ASSOCIATION USING DATA OF THE AGORA DATA- AND with health professionals.
BIOBANK AND THE EUROCAT NORTHERN NETHERLANDS REGISTRY Conclusion: Health policies should ensure that families and children with
CA and/or CP have access to reliable information. Health services and
Romy van de Putte 1, Kirsten van Hooijdonk 1, Ivo de Blaauw 2, Jorieke E.H. professionals should take into account the unique needs of each family and
Bergman 3, Hermien E.K. de Walle 3, Nel Roeleveld 1, Iris A.L.M. van child and develop integrated interventions.
Rooij 1, 2. 1 Department for Health Evidence, Radboudumc, Nijmegen, the
Netherlands; 2 Department of Surgery - Paediatric surgery, Radboudumc Poster Presentations
Amalia Children’s Hospital, Nijmegen, the Netherlands; 3 Eurocat Northern THE RELATIONSHIP BETWEEN SOCIAL DEPRIVATION AND PREVALENCE
Netherlands, Department of Genetics, University of Groningen, University OF CONGENITAL ANOMALIES IN ENGLAND (2015-2016); AN NCARDRS
Medical Center Groningen, Groningen, the Netherlands ANALYSIS

Background: The VACTERL association is a combination of serious birth Jennifer M. Broughan 1, Rosalie Morgan 1, Martin Ward-Platt 1, 2, M. Judith
defects and occurs in approximately 1 in 20,000 pregnancies. Literature Rankin 3, Corinne Mallinson 1, Danielle Martin 1, Nicola Miller 1, Mark
shows inconsistent results regarding maternal smoking and lack of folic Mumme 1, Kay Randall 1, Sylvia Stoianova 1, Ann Tonks 1, Sarah
acid use as risk factors, possibly due to small study populations. The aim of Stevens 1. 1 National Congenital Anomaly and Rare Disease Registration
this study was to investigate whether maternal smoking and folic acid Service (NCARDRS), Public Health England, Skipton House, London, UK;
supplement use are involved in the etiology of the VACTERL association in 2
Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon
a thus far largest case-control study. Tyne, UK; 3 Institute of Health & Society, Newcastle University, Newcastle
Methods: We included 92 VACTERL patients, born between 1997 and 2017, upon Tyne, UK
from the AGORA data- and biobank and EUROCAT Northern Netherlands.
Controls (n¼276) were matched on birth year using frequency matching Background: Children from more deprived Backgrounds have much worse
(ratio 3:1). We retrieved information on maternal smoking, folic acid use, health outcomes than children from less deprived areas in England; the
and potential confounders in the periconceptional period (4 weeks before stark link between poverty and poor health is clear. The National Congenital
until week 10 after conception) through questionnaires. Multiple impu- Anomaly and Rare Disease Registration Service provides an opportunity to
tation was used to deal with missing data. Multivariable logistic regression examine further this relationship for congenital anomalies (CA).
analyses were performed to estimate odds ratios (ORs) with 95% confi- Methods: NCARDRS was launched by Public Health England in 2015.
dence intervals (95%CI). Initially, incorporating existing regional CA registers, registers for regions
Results: Any smoking during the periconceptional period was reported by not previously covered were created. Data capture, processing, coding and
30 mothers of patients (32.6%) and by 51 control mothers (18.5%), resulting analysis has been standardised and a single data management system
in an increased OR (2.1, 95%CI 1.2e3.6). In addition, 67 mothers of patients developed. Based on data from 1st January 2015 to 31st December 2016