Implementation of Selective Karyotyping in Couples with Recurrent Miscarriage
Projectomschrijving
Herhaalde miskramen kunnen tal van oorzaken hebben waaronder de aanwezigheid van een zogeheten gestructureerde gebalanceerde chromosoomafwijking bij één of beide ouders. Onderzoek hierna, zogeheten karyotypering, is kostbaar. In eerder onderzoek werd aangetoond dat de kans dat er sprake is van zo’n chromosoomafwijking afhankelijk is van de leeftijd van de moeder bij de tweede miskraam, van het totaal aantal miskramen en van het vóórkomen van miskramen bij familieleden. Deze kennis maakt het mogelijk karyotypering alleen uit te voeren bij paren met een hoog risico op dragerschap van de chromosoomafwijking. In Amsterdam is het effect van de invoering van deze zogeheten selectieve karyotypering onderzocht. Invoering in 4 ziekenhuizen van het gebruik van tal hulpmiddelen waarmee relatief snel en gemakkelijk het risico op dragerschap te bepalen is (elektronisch stroomdiagram, zakkaartje, vragenlijst die de paren vooraf kunnen invullen etc), leidde tot een stijging van het toepassen van selectieve karyotyperingt (bij 76% in plaats van 50% van de paren).
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Auteur: E. van den Boogaard (1)*, R.P.M.G. Hermens (2), N.J. Leschot (3), R. Baron (1), J.H.A. Vollebergh (4), R.E. Bernardus (5), F. van der Veen (1), J.A.M. Kremer (6), M. Goddijn (7) 1) Academic Medical Center, Centre for Reproductive Medicine, Amsterdam, The Netherlands 2) Radboud University Nijmegen Medical Centre, IQ health care, Nijmegen, The Netherlands 3) Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands 4) Hospital Bernhoven, Department of Obstetrics and Gyn
Magazine: Acta Obstetricia et Gynecologica Scandinavica
Auteur: E van den Boogaard (1)*, M Goddijn (1), NJ Leschot (2), F van der Veen (1), JAM Kremer (3), RPMG Hermens (4) 1) Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 2) Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 3) Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4) IQ
Magazine: Reproductive Biomedicine Online
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Samenvatting van de aanvraag
IMPLEMENTATION PROBLEM: Recently, evidence has shown that a more accurate estimation of the risk of carrier status for a balanced structural chromosome abnormality can be obtained in couples with recurrent miscarriage (RM) based on four independent risk factors: maternal age at the second miscarriage, three miscarriages, two or more miscarriages in siblings, and two or more miscarriages in parents. When compared to current practice, i.e. karyotyping all couples presenting with RM, the new proposed selective screening strategy is rather complex, and can only be applied when the gynaecologist poses some additional questions at the patients' first visit. The new evidence has not been implemented in the Netherlands which is unfortunate, as this is likely to decrease the annual number of karyotypes and could therefore lower costs and efforts substantially. IMPLEMENTATION OBJECTIVES: The main goal is implementation of the proposed selective karyotyping strategy in 75% of couples referred by gynaecologists. IMPLEMENTATION ACTIVITIES/ STRATEGIES: We will adress knowledge to professionals involved about selective karyotyping strategy (SKS) based on four independent risk factors for parental carrier status (maternal age at the second miscarriage, three miscarriages, two or more miscarriages in siblings, and two or more miscarriages in parents). Actual care, i.e. the karyotyping referral policy of gynaecologists, will be registered in ten Dutch hospitals (Departments of Obstetrics and Gynaecology). A study of existing barriers and facilitators with regard to selective karyotyping will be conducted through focusgroup interviews among gynaecologists, patients, GP's, midwives, clinical geneticists and clinical cytogeneticists. Analysis of these data and deduction in an expert panel will lead to development of one or more implementation strategies in order to facilitate adoption of selective karyotyping. The adherence to selective karyotyping will be registered in a feasibility study and compared with adherence before introduction of the implementation strategy. POWER/ DATA ANALYSIS: Actual care of all couples with recurrent miscarriage presenting to the gynaecologist, will be registered in ten Departments of Obstetrics and Gynaecology in two regions in the Netherlands (n = ± 450 couples per 12 months). Focusgroups interviews will be carried out with respectively ± 20 gynaecologists, 10 patients, 5 GP's, 5 midwives, 10 clinical geneticists and 10 clinical cytogeneticists. Analysis of these data will be followed by deduction with an expertpanel in order to develop an implementation strategy. After introduction of the implementation strategy, the adherence to selective karyotyping will be registered in four Dutch hospitals in two regions (n = ± 240 couples per 12 months), and compared with adherence before introduction. TIME SCHEDULE: the project can start after adoption of selective karyotyping in the NVOG guideline 'Recurrent Miscarriage'. Preparation phase (month 1-3); Actual care study (ten hospitals) and setting up a computerized database system to facilitate prospective registration of adherence to SKS in four hospitals (month 4-12); Focusgroup interviews among gynaecologists, patients, GP's, midwives, clinical geneticists and clinical cytogeneticists (month 4-12); Analysis of data and development of an implementation strategy (month 13-18); Feasibility study: effectevaluation (month 19-30); processevaluation (month 19-30), economic evaluation (month 19-30), analyses and reporting (month 31-36). . implementation objective(s) / research question(s) . design . study population(s)/ datasets . intervention to be implemented . implementation activities/strategy . outcome measures and process indicators . power/data analysis . economic evaluation (if applicable) . time schedule . implementatiedoelstelling / vraagstelling . opzet . studiepopulatie / databronnen . te implementeren interventie/verrichting . implementatie activiteiten/strategieën . uitkomstmaten en procesindicatoren . power-/data-analyse . economische evaluatie (indien van toepassing) . tijdsplanning :