Carol Bower

Aim: There is increasing attention on fetal alcohol spectrum disorders (FASD) in Australia, but there are limited data on their birth prevalence. Our aim was to report on the birth prevalence of FASD in Western Australia.Methods: Data on notified cases of FASD born in Western Australia 1980–2010 were identified from the Western Australian Register of Developmental Anomalies. Tabulated denominator data were obtained from the Midwives Notification System. Prevalence rates per 1000 births were calculated by demographic variables. Prevalence ratios (PRs) and 95% confidence intervals (CIs) of Aboriginal compared with non‐Aboriginal prevalence rates were calculated. PRs were also calculated to compare rates for births 2000–2010 with 1980–1989.Results: Two hundred ten cases of FASDs were identified: a birth prevalence of 0.26/1000 births (95% CI 0.23–0.30). The majority of cases reported were Aboriginal (89.5%), a rate of 4.08/1000, compared with 0.03/1000 in notified non‐Aboriginal cases, giving a PR of 139 (95% CI 89–215). The prevalence of FASD in 2000–2010 was over twice that in 1980–1989 for both Aboriginal (PR 2.37; CI 1.60–3.51) and non‐Aboriginal (PR 2.13; CI 0.68–6.69) children.Conclusions: There has been a twofold increase in FASD notifications in Western Australia over the last 30 years. Population surveillance data such as these are valuable in advocating for and monitoring the effectiveness of preventive activities and diagnostic and management services.

BACKGROUND: Many birth defects surveillance programs ascertain cases of birth defects diagnosed beyond 1 year of age. The Western Australian (WA) Birth Defects Registry includes cases diagnosed up to 6 years of age, but the value of extending ascertainment beyond 1 year has not been assessed.METHODS: We examined the age at diagnosis for all cases and all birth defects notified to the WA Birth Defects Registry for births and terminations of pregnancy in 2000 and 2001 and estimated the amount of person time needed to ascertain cases diagnosed beyond 1 year of age.RESULTS: Of the 3294 cases of birth defects, 616 (18.7%) had at least one birth defect diagnosed prenatally, 1574 cases (47.8%) were first diagnosed by 1 month of age, 671 infants (20.4%) were first diagnosed with a birth defect from 1 month up to 1 year, and 400 cases (12.1%) were first diagnosed between 1 and 6 years of age. Two thirds of children diagnosed with Fetal Alcohol Syndrome, and one quarter of those with congenital hearing loss were diagnosed beyond 1 year of age. We estimated that it took 1.76 person weeks work per annum to ascertain cases diagnosed between 1 and 6 years of age.CONCLUSIONS: One in eight cases of birth defects were ascertained beyond 1 year of age. We consider that the additional work required to include these cases in Western Australia is outweighed by the benefit of more complete ascertainment. Birth Defects Research (Part A) 2010.

BACKGROUND: Use of periconceptional folic acid supplementation has been promoted in Western Australia since late 1992, and voluntary fortification of some foods with folic acid has been permitted in Australia since 1996. Reduced rates of neural tube defects (NTDs) have been observed since 1995. Aboriginal infants have a higher rate of NTDs, but no fall in rates has been documented. Encephaloceles have not been examined separately.METHODS: Data on anencephaly, spina bifida, and encephalocele were obtained from the Western Australian Birth Defects Registry. The prevalence ratio for each type of NTD was calculated, comparing 1993 to 1995 (promotion of supplements, no fortification) and 1996 to 2006 (promotion of supplements and voluntary fortification) with 1980 to 1992 (no promotion or fortification).RESULTS: From 1996 to 2006, there was a 32% reduction in anencephaly, 23% in spina bifida, and 34% in encephalocele compared with 1980 to 1992. There were no differences seen from 1993 to 1995 compared with 1980 to 1992. For Aboriginal infants, the rates were higher than for non‐Aboriginal infants, for each type of NTD. The prevalence ratios, comparing 1996 to 2006 with 1980 to 1995, were 0.70 (CI, 0.61–0.79) for non‐Aboriginal infants and 0.90 (CI, 0.61–1.32) for Aboriginal infants.CONCLUSIONS: Overall, the rates of encephalocele, anencephaly, and spina bifida have fallen to a similar extent in association with promotion of folic acid supplements and voluntary fortification. No such falls were seen for Aboriginal infants. These data will provide a useful baseline against which to monitor the effects of mandatory fortification on NTDs when it is introduced in Australia in September 2009. Birth Defects Research (Part A), 2009.

This paper reviews the role of the Western Australian Birth Defects Registry in the primary prevention of neural tube defects. The Registry provides complete and up-to-date information on all neural tube defects (NTD), including terminations of pregnancy. These data have been used to determine a baseline rate of NTD and to monitor trends in NTD over time, when health promotion of folic acid supplement use and voluntary fortification of food with folate were introduced. The register has also been used to investigate NTD in special populations (Indigenous infants in Australia) and as a sampling frame for case control studies. The data derived from these studies have been used to assist in assessing whether mandatory food fortification in Australia is indicated to prevent NTD.

Background: The Western Australian (WA) Birth Defects Registry aims for complete ascertainment of birth defects in WA, but the proportions of birth defects in rural areas and in Aboriginal children are lower than in metropolitan and non‐Aboriginal children. The effect on ascertainment of adding data from the Rural Paediatric Service (RPS) was investigated. Method: A file of all cases of birth defects for children born 1980–1997 and recorded on the RPS database was linked to the Registry. Results: The addition of this new data source had little effect on the overall prevalence of birth defects (an increase from 5.38 to 5.41%). There was a slightly greater effect on the prevalence of birth defects in rural residents (4.67%–4.76%) and Aboriginal children (4.55–4.78%), although the prevalence for each of these groups is still less than for metropolitan residents and non‐Aboriginal infants, respectively. All major categories of birth defects were represented in the new cases and, in general, their addition made little difference to the prevalence of each category. The exception was fetal alcohol syndrome, which increased from 0.13 per 1000 to 0.18 per 1000 once the 21 new cases from the RPS were added. Conclusion: Complete ascertainment of birth defects is important in developing and evaluating preventive programs, and in investigating clusters of birth defects.