| 1. |
- Alriksson-Schmidt, Ann I., et al.
(författare)
-
The natural history of spina bifida in children pilot project : Research protocol
- 2013
-
Ingår i: JMIR Research Protocols. - : JMIR Publications Inc.. - 1929-0748. ; 2:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Population-based empirical information to inform health care professionals working with children with spina bifida currently is lacking. Spina bifida is a highly complex condition that not only affects mobility but many additional aspects of life. We have developed a pilot project that focuses on a broad range of domains: Surgeries, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. Specifically, we will: (1) explore the feasibility of identifying and recruiting participants using different recruitment sources, (2) test a multidisciplinary module to collect the data, (3) determine the utility of different methods of retrieving the data, and (4) summarize descriptive information on living with spina bifida. Objective: The overall objective of the project was to provide information for a future multistate prospective study on the natural history of spina bifida. Methods: Families with a child 3 to 6 years of age with a diagnosis of spina bifida were eligible for enrollment. Eligible families were identified through a US population-based tracking system for birth defects and from a local spina bifida clinic. Results: This is an ongoing project with first results expected in 2013. Conclusions: This project, and the planned multistate follow-up project, will provide information both to health care professionals experienced in providing care to patients with spina bifida, and to those who have yet to work with this population. The long-term purpose of this project is to increase the knowledge about growing up with spina bifida and to guide health care practices by prospectively studying a cohort of children born with this condition.
|
|
| 2. |
- Leoncini, Emanuele, et al.
(författare)
-
How Valid Are the Rates of Down Syndrome Internationally? : Findings from the International Clearinghouse for Birth Defects Surveillance and Research
- 2010
-
Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 152A:7, s. 1670-1680
-
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.
|
|
| 3. |
- Mastroiacovo, Pierpaolo, et al.
(författare)
-
Gastroschisis and associated defects : an international study
- 2007
-
Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:7, s. 660-671
-
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.
|
|
