Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease

摘要: Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs higher carrier rates in specific patient populations. Identifying counselling couples at risk the before pregnancy enables them to make fully informed reproductive decisions, some these choices not being available if is only offered an antenatal setting. This update a previously published review. Objectives: To assess effectiveness systematic preconception assessment improve outcomes women their partners who identified as carriers disease healthcare settings when compared usual care. Search methods: We searched Cochrane Cystic Fibrosis Genetic Disorders Group's Trials Registers. In addition, we for all relevant trials from 1970 (or date which database was first after 1970) using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial (National Institutes Health, Clinical Search portal World Health Organization, metaRegister controlled trials), hand searching key journals conference abstract books 1998 (European Journal Human Genetics, Genetics Medicine, Community Genetics). also reference lists articles, reviews guidelines contacted subject experts field request any unpublished other trials. Date latest search registers: 20 June 2017. Date sources: 16 November 2017. Selection criteria: Any randomised quasi-randomised (published unpublished) comparing care. Data collection analysis: 25 papers, describing unique were potentially eligible inclusion review. However, assessment, no found. Main results: No included. One ongoing has been may once completed. Authors' conclusions: As fibrosis, found this review, research evidence current policy recommendations limited non-randomised studies. Information well-designed, adequately powered, desirable order more robust practice. such must consider legal, ethical, cultural barriers implementation assessment.