| 1. |
- Cocchi, Guido, et al.
(författare)
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International Trends of Down Syndrome 1993-2004 : Births in Relation to Maternal Age and Terminations of Pregnancies
- 2010
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Ingår i: Birth defects research. Clinical and molecular teratology. - : Wiley. - 1542-0752 .- 1542-0760. ; 88:6, s. 474-479
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). METHODS: Trends of births with DS (live-born and stillborn), ToP with DS, and maternal age (percentage of mothers older than 35 years) were examined by year over a 12-year period (1993-2004). The total mean number of births covered was 1550,000 annually. RESULTS: The mean percentage of mothers older than 35 years of age increased from 10.9% in 1993 to 18.8% in 2004. However, a variation among the different registers from 4-8% to 20-25% of mothers >35 years of age was found. The total mean prevalence of DS (still births, live births, and ToP) increased from 13.1 to 18.2/10,000 births between 1993 and 2004. The total mean prevalence of DS births remained stable at 8.3/10,000 births, balanced by a great increase of ToP. In the registers from France, Italy, and the Czech Republic, a decrease of DS births and a great increase of ToP was observed. The number of DS births remained high or even increased in Canada Alberta, and Norway during the study period. CONCLUSIONS: Although an increase in older mothers was observed in most registers, the prevalence of DS births remained stable in most registers as a result of increasing use of prenatal diagnostic procedures and ToP with DS.
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| 2. |
- Cummings, Vonda J., et al.
(författare)
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Linking Ross Sea Coastal Benthic Communities to Environmental Conditions : Documenting Baselines in a Spatially Variable and Changing World
- 2018
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Ingår i: Frontiers in Marine Science. - : Frontiers Media SA. - 2296-7745. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Understanding the functionality of marine benthic ecosystems, and how they are influenced by their physical environment, is fundamental to realistically predicting effects of future environmental change. The Antarctic faces multiple environmental pressures associated with greenhouse gas emissions, emphasizing the need for baseline information on biodiversity and the bio-physical processes that influence biodiversity. We describe a survey of shallow water benthic communities at eight Ross Sea locations with a range of environmental characteristics. Our analyses link coastal benthic community composition to seafloor habitat and sedimentary parameters and broader scale features, at locations encompassing considerable spatial extent and variation in environmental characteristics (e.g., seafloor habitat, sea ice conditions, hydrodynamic regime, light). Our aims were to: (i) document existing benthic communities, habitats and environmental conditions against which to assess future change, (ii) investigate the relationships between environmental and habitat characteristics and benthic community structure and function, and (iii) determine whether these relationships were dependent on spatial extent. A very high percentage (>95%) of the between-location variability in macro- or epifaunal community composition was explainable using multi-scale environmental variables. The explanatory power varied depending on the scale of influence of the environmental variables measured (fine and medium-scale habitat, broad scale), and with community type. However, the inclusion of parameters at all scales produced the most powerful model for both communities. Ice duration, ice thickness and snow cover were important broad scale variables identified that directly relate to climate change. Even when using only habitat-scale variables, extending the spatial scale of the study from three locations covering 32 km to eight locations covering ~340 km increased the degree of explanatory power from 18–32 to 64–78%. The increase in explanatory power with spatial extent lends weight to the possibility of using an indirect “space for time” substitution approach for future predictions of the effects of change on these coastal marine ecosystems. Given the multiple and interacting drivers of change in Antarctic coastal ecosystems a multidisciplinary, long term, repeated observation approach will be vital to both improve and test predictions of how coastal communities will respond to environmental change.
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| 3. |
- Leoncini, Emanuele, et al.
(författare)
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How Valid Are the Rates of Down Syndrome Internationally? : Findings from the International Clearinghouse for Birth Defects Surveillance and Research
- 2010
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 152A:7, s. 1670-1680
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Tidskriftsartikel (refereegranskat)abstract
- Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment. The proposed method compares the observed number of cases with DS (livebirths plus elective pregnancy terminations, adjusted for spontaneous fetal losses that would have occurred if the pregnancy had been allowed to continue) in each single year of maternal age, with the expected number of cases based on the best-published data on rates by year of maternal age. To test this method we used data from birth years 2000 to 2005 from 32 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research. We computed the adjusted observed versus expected ratio (aOE) of DS birth prevalence among women 25-44 years old. The aOE ratio was close to unity in 13 programs (the 95% confidence interval included 1), above 1 in 2 programs and below 1 in 18 programs (P < 0.05). These findings suggest that DS rates internationally can be evaluated simply and systematically, and underscores how adjusting for spontaneous fetal loss is crucial and feasible. The aOE ratio can help better interpret and compare the reported rates, measure the degree of under- or over-registration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs.
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| 4. |
- Mastroiacovo, Pierpaolo, et al.
(författare)
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Gastroschisis and associated defects : an international study
- 2007
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:7, s. 660-671
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Tidskriftsartikel (refereegranskat)abstract
- Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio-vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review.
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