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    Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

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    Authors
    Boyle, B
    Morris, JK
    McConkey, R
    Garne, E
    Loane, M
    Addor, MC
    Gatt, M
    Haeusler, M
    Latos-Bielenska, A
    Lelong, N
    McDonnell, R
    Mullaney, C
    O'Mahony, M
    Dolk, H
    Show allShow less
    Issue Date
    2014-07-23
    Keywords
    PREGNANCY
    SCREENING
    DOWNS SYNDROME
    
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    Citation
    Boyle B et al. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. Br J Ob Gyn 2014, 121 (7):809
    Journal
    BJOG: An International Journal of Obstetrics & Gynaecology
    URI
    http://hdl.handle.net/10147/323618
    DOI
    10.1111/1471-0528.12574
    Additional Links
    http://doi.wiley.com/10.1111/1471-0528.12574
    Item Type
    Article
    Language
    en
    ISSN
    14700328
    Sponsors
    OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14.8 million births 1990-2009; 2.89% multiple births. METHODS: DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases. MAIN OUTCOME MEASURES: Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome. STATISTICAL ANALYSIS: Poisson and logistic regression stratified for maternal age, country and time. RESULTS: Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59]). CONCLUSIONS: The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.
    ae974a485f413a2113503eed53cd6c53
    10.1111/1471-0528.12574
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