The prevention of Down's syndrome in the south western region of England 1975-1985

Cytogenetic prenatal screening for Down's syndrome in the South West Region of England from 1975 to 1985 was reviewed. The use of amniocentesis increased, and for the years 1981 to 1985 averaged 29.4% of women 35 years or over at their estimated date of delivery. 58 pregnancies were terminated after karyotyping of amniotic fluid cells confirmed trisomy 21. 385,440 live births were born in the region, 452 with Down's syndrome, giving a live birth incidence of 1 in 853. The effective impact of prenatal screening was calculated at an overall 8.3% reduction in Down's syndrome live births, but for the years 1981 to 1985 this rose to 11.3%. In spite of the introduction of new prenatal screening programmes that are not reliant solely on maternal age, it is predicted that substantial numbers of children with Down's syndrome are likely to be born each year. Adequate medical facilities will still be required for the survivors.     

Women and alcohol--trends in Australia

Analysis of significant trends in self-reported alcohol consumption by women is presented, using data from surveys carried out by the Australian Bureau of Statistics in three Australian States: Western Australia, South Australia and New South Wales. Three indices of alcohol consumption were used to characterize consumption in 1977 and subsequently in 1983 or 1985. Little change was observed in the proportion of women who consumed alcohol in the previous week, although significant increases were recorded in the average daily consumption of female drinkers in all three States. These overall increases reflect increased levels of consumption by younger women. Women aged 18-24 years in all three States, as well as those aged 25-44 years in South Australia, consumed more alcohol in the later survey than did women of the same ages in 1977. The proportion of younger female drinkers whose average daily consumption reached hazardous levels showed marked increases in all three States. Analysis of beverage choices in Western Australia and South Australia indicated that older women in both States were consuming significantly less beer, and that South Australian women aged 25-64 years were consuming less fortified wine than were women of the same ages in 1977. These decreases were overshadowed by significant increases in wine consumption in both States for all age groups, and by increasing spirits' consumption in the 18-24 year olds. Several sources of underestimation of consumption are cited. Observed trends are discussed in the light of changing social values, alcohol marketing strategies and the employment status of women. Likely short- and long-term consequences of the observed consumption patterns are predicted and the challenge to prevention strategies is highlighted.     

Opioid overdose mortality in Australia, 1964-1997: birth-cohort trends.

OBJECTIVE: To examine trends in rates of opioid overdose deaths from 1964 to 1997 in different birth cohorts. DESIGN: Age-period-cohort analysis of national data from the Australian Bureau of Statistics. MAIN OUTCOME MEASURES: Annual population rates of death attributed to opioid dependence or accidental opioid poisoning in people aged 15-44 years, by sex and birth cohort (in five-year intervals, 1940-1944 to 1975-1979). RESULTS: The rate of opioid overdose deaths increased 55-fold between 1964 and 1997, from 1.3 to 71.5 per million population aged 15-44 years. The rate of opioid overdose deaths also increased substantially over the eight birth cohorts, with an incidence rate ratio of 20.70 (95% confidence interval, 13.60-31.46) in the 1975-1979 cohort compared with the 1940-1944 cohort. The age at which the cumulative rate of opioid overdose deaths reached 300 per million fell in successive cohorts (for men, from 28 years among those born 1955-1959 to 22 years among those born 1965-1974; for women, from 33 years among those born 1955-1959 to 27 years among those born 1965-1969). CONCLUSIONS: Heroin use in Australia largely began in the early 1970s and rates of heroin use have markedly increased in birth cohorts born since 1950.     

Chromosomal abnormality rates at amniocentesis and in live-born infants

Regression-smoothed maternal age-specific rates of six different categories of cytogenetic abnormalities in recent large-scale prenatal cytogenetic studies were multiplied by independently derived fetal selection coefficients--factors that adjust for the excess likelihood of spontaneous loss of cytogenetically abnormal fetuses--to obtain estimated maternal age-specific rates of these categories of cytogenetic abnormalities in live-born infants. The derived rates apply to women whose only risk factor is advanced maternal age. The categories analyzed were 47,+21 (Down's syndrome), 47,+18 (Edwards' syndrome), 47,+13 (Patau's syndrome), 47,XXY (Klinefelter's syndrome), 47,XXX, and the group of other clinically significant abnormalities considered collectively. The rate of all clinically significant abnormalities considered together derived in this study was about five per 1,000 at age 35 years, 15 per 1,000 at age 40 years, and 50 per 1,000 at age 45 years.     

Tuberculosis surveillance in the South Australian aboriginal community

Tuberculosis (TB) is still a significant problem in Aboriginal people. There are higher rates of active TB and evidence of continuing transmission among this group. We sought to define the specific epidemiological risks and best methods of surveillance for TB in Aboriginal people in South Australia. We compared the incidence of active TB in Aboriginal people in South Australia with that of the total number of cases in non-Aboriginal people from 1978 to 1988, and studied the prevalence of infection in four Aboriginal communities in South Australia. Incidence rates of active TB were four times higher in South Australian Aboriginal people than the total South Australian rates. Specific age analysis revealed higher active disease notification rates in Aboriginal people aged 45-54 years and 55-64 years. The notification rate for Aboriginal men was almost three times the rate for women. Standardized incidence ratios of active TB cases for Aboriginal communities were higher in rural and traditional communities than in urban Aboriginal people. Infection prevalence, measured by tuberculin skin testing, varied from 7.7% to 30.8% in the different communities but did not correlate with the standardized incidence ratios. We conclude that (i) South Australian Aboriginal people are suffering a higher rate of active TB disease than the total South Australian community, and (ii) that the disease and infection rates vary between communities and between age and sex groups. The discrepancy between disease notifications rates, as measured by standardized incidence ratios, and infection prevalence requires further investigation. To improve TB control in Aboriginal people, programmes need to be altered to be more appropriate for this group.     

Perinatal mortality in South Australia

A study of the recorded causes of perinatal mortality has been made in South Australia for the years 1970 to 1973. The overall perinatal mortality was 22.16 per 1,000 births. Higher mortality was observed in babies of women resident outside the metropolitan area, of those aged under 20 and over 35 years, and of those not currently married. The most frequent causes of perinatal mortality were prematurity, placental insufficiency, congenital anomalies, maternal disorders and haemorrhage, in that order. Multiple pregnancy had a high perinatal mortality. Better recording systems with record linkage are required.     

Screening for Down's syndrome using serum alpha fetoprotein: a retrospective study indicating caution

A report was made on the outcome of a four year retrospective study in 27 064 pregnancies, of the clinical efficiency, sensitivity, and specificity of a screening programme for Down's syndrome based on reported strategies related to the measurement of maternal serum alpha fetoprotein. This study identified 27 pregnancies affected by Down's syndrome with a median multiple of the median maternal serum alpha fetoprotein concentration of 0.82. This figure is considerably higher than that obtained from previous reports on this subject. With an age related multiple of the median maternal serum alpha fetoprotein strategy, 30.8% of Down's affected pregnancies were identified as well as 11.6% of unaffected pregnancies. Perhaps a United Kingdom collaborative study should begin to investigate the reasons for such wide population variance in the reports for the median multiple of the median for Down's affected pregnancies. Until such studies are carried out, screening for Down's syndrome based on low maternal serum alpha fetoprotein concentration is premature.     

Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18 month period

Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies.     

Prenatal cytogenetic diagnosis: medical and social implications. Indications, acceptance by doctors and patients, impact and cost: a 10-year review

Prenatal cytogenetic diagnosis has been in widespread use for a decade, and access to it has been determined by medical attitudes towards what constitutes "high risk", and by pragmatic questions about the logistics of delivering a new diagnostic test to as many couples as costs will allow. The most common indication - advanced maternal age - has led to different access criteria in various parts of Australia. Factors such as socioeconomic status, education, and religion affect the acceptance of prenatal cytogenetic diagnosis from the point of view both of patients and of the doctors who care for them. Cost-benefit analyses conducted elsewhere indicate that, in purely monetary terms, it is probable that prenatal cytogenetic diagnosis is cost-effective if offered to all couples in which the woman is over the age of 32 years. An assessment of the impact of prenatal cytogenetic diagnosis on the birth incidence of major chromosomal abnormalities, particularly Down's syndrome, indicates that the maximum reduction which might be achieved in current practice is 30%.     

Vechile-occupant fatalities after legislation for compulsory wearing of seat belts in Australia: different trends between the sexes

The protective value of legislation for compulsory wearing of seat belts has been supported by Australian and overseas experience. An evaluation of changes during the period from 1957 to 1977 in the incidence of road crash fatalities for male and female vehicle occupants in Victoria and the rest of Australia (that is, in Australia minus Victoria) is presented. Reduction in the number of fatalities and the fatality rate in the number of fatalities per 10,000 vehicles) for vehicle occupants has resulted largely from statistically significant decreases for male drivers and adult passengers, especially females. However, the fatality rates have remained within the 95% confidence limits of expected post-legislation values for female drivers in Victoria and the rest of Australia, and for male adult passengers in the rest of Australia. There has been virtually no reduction in road crash fatalities for passengers less than 17 years of age. Hypotheses are advanced to explain these findings and further countermeasures are suggested.     

孕中期唐氏综合征血清学筛查的经济效益评价

目的 从临床及卫生经济学的角度探讨孕中期唐氏综合征产前筛查的意义.方法 采用酶联免疫吸附试验(ELISA)检测12 720名孕龄为14～20周的中国孕妇的血清甲胎蛋白(AFP)、绒毛膜促性腺激素(β-hCG)水平,结合孕妇的年龄、孕周等关键参数,计算唐氏综合征的风险系数,并对高危人群进行产前诊断.结果 761例唐氏综合征筛查高危妊娠妇女中,诊断唐氏综合征患儿7例;11 959例唐氏综合征筛查低危妊娠妇女中,诊断唐氏综合征2例.筛查成本为495 023元,安全指数为0.28.结论 采用ELISA法检测孕妇血清AFP和β-hCG的方法成本低、安全性高,是适合中国国情的唐氏综合征产前筛查方案.     

Down's syndrome. Recent trends in the United States

The crude incidence of Down's syndrome (DS) in the United States is currently about 1/1,000 births. Reduction in the proportion of births to women 35 years and older can account for a halving of the estimated percentage of DS births to this age group and a drop in the estimated crude incidence of DS from 1.33/1,000 births in 1960 to 0.99/1,000 births in 1978. Epidemiologic studies suggest that among women 35 years and older, the risk of having a child with DS has not changed. With the present distribution of maternal ages, prenatal diagnosis among women 35 years and older can result in no more than a 20% decrease in the crude incidence of DS. With continued use of prenatal diagnosis among older gravidas, upward of 80% of DS births will occur to younger mothers.     

江苏省启东地区1973至2002年肝癌发病率长期趋势的评价

目的评价江苏省启东肝癌高发现场30年肝癌发病率的长期趋势.方法采用启东1973至2002年肿瘤登记报告资料,计算肝癌粗发病率、世界人口调整率（WASR）、35～64岁截缩调整率、0～74岁累积发病率、变化百分比（PC）及年度变化百分比（APC）,并作时期、年龄和队列发病率比较分析。结果启东肝癌30年平均粗发病率为59．28／10万,其中男为91．65／10万,女为27．64／10万,男女发病率性别比例为3．32：1WASR为58．71／10万,其中男为93．32／10万,女为26．46／10万。35～64岁肝癌截缩调整率为143．61／10万,0～74岁累积发病率为6．07％？粗发病率的PC为＋30．90％,APC为＋1．58％;调整率的PC为＋12．33％,APC为＋0．41％。资料显示后15年肝癌总体发病率上升,但35岁以F年龄组发病率有显著的下降。时期趋势分析也显示35岁以下各年龄组发病率均已下降;出生队列分析则显示1963年以后出生队列发病率的下降趋势。结论启东肝癌高发现场30年粗发病率总体呈上升趋势,可能与中老年人口的增加有关;但现场多年的防治工作,已对青年人的肝癌发病率产生影响,并出现下降趋势。     

母血清生化二联、三联标记物筛查胎儿唐氏综合征

目的 用母血清生化标记物筛查胎儿唐氏综合征(Down’s syndrome,DS)等先天异常。方法 应用孕妇血清指标和时间分辨荧光免疫分析法对本院1996年11月-2001年3月在本科产前检查的2886例孕妇进行DS胎儿筛查。对高危孕妇作羊腹腔穿刺或早孕绒毛取材以得到胎儿染色体。对应用的指标捡出率及假阳性率进行分析。结果 共捡出11例DS,8例无脑儿;DS检出率3．8‰。结论 妊娠相关血浆蛋白A(PAPP-A)筛查胎儿DS有很好的价值并能使产前诊断时期提前,甲胎蛋白 游离人绒毛膜促性腺激素(AFP freeβ-HCG)可用于检测DS和胎儿异常。     

Reducing birth defect risk in advanced maternal age.

The incidence of birth defects increases with maternal age. Recent advances in fetal diagnosis, coupled with elective abortion, offer the older pregnant woman an opportunity to reduce this risk. To determine the magnitude of potential risk reduction, we reviewed the maternal age-specific incidence of infants born with one or more severe birth defects in metropolitan Atlanta from 1968 to 1975, removing from analysis certain anomalies that were preventable by currently available methods. For women aged 35 to 44 years, the risk of bearing an infant with a severe birth defect was reduced to a level comparable with that for younger women. Despite prenatal diagnosis and elective abortion, the risk for women aged 45 years or older, although reduced considerably, was two times greater than that for women aged 34 years or younger.     

Maternal phenylketonuria: a continuing problem.

OBJECTIVES: To estimate the number of women of childbearing age in New South Wales whose children are at risk of the maternal phenylketonuria (PKU) syndrome (intellectual disability, microcephaly, congenital malformations). SETTING: New South Wales, 1996. DESIGN: Comparison of number of women with PKU aged 15-44 years on the NSW PKU database (observed number) with expected number derived from population data. MAIN OUTCOME MEASURES: Observed and expected numbers of women with PKU (defined as blood phenylalanine levels > or = 400 mumol/L, and phenylalanine-restricted diet recommended) by age; number with no clinical contact with the PKU service in previous year; outcomes of pregnancies in women with PKU (January 1994 to July 1996). RESULTS: 110 women aged 15-44 years with PKU were listed on the database. The expected number was 145 (95% confidence interval, 122-171). The difference was greatest in the 30-44 years age group (born before comprehensive newborn screening), with only 55% of the expected number listed. Sixteen women who had been diagnosed with PKU at birth were not having regular follow-up, while 18 women had been diagnosed only after investigation of abnormalities in their children. Of 28 pregnancies managed by the NSW PKU service, 19 were considered unaffected by the maternal PKU syndrome and five affected (another three did not reach term; one outcome was unknown). Of 46 unmanaged pregnancies, all were affected. CONCLUSION: There is an urgent need for better follow-up of women with PKU and for education of health professionals about the MPKU syndrome, its recognition, the risks of untreated pregnancy and the benefits of dietary treatment.     

Decrease in breast cancer incidence following a rapid fall in use of hormone replacement therapy in Australia

OBJECTIVE: To determine if the recent rapid fall in use of hormone replacement therapy (HRT) in Australia has been followed by a reduction in breast cancer incidence among women aged 50 years or older, but not among younger women. DESIGN AND SETTING: Analysis of trends in annual prescribing of HRT, using Pharmaceutical Benefits Scheme data, and in annual age-standardised breast cancer incidence rates in Australian women for the period 1996-2003. RESULTS: In Australia, prescribing of HRT increased from 1996 to 2001, but dropped by 40% from 2001 to 2003. Age-standardised breast cancer incidence rates in women aged > or = 50 years also increased to 2001 but declined thereafter. The incidence rates in this age group were lower by 6.7% (95% CI, 3.9%-9.3%; P < 0.001) in 2003 compared with 2001, equivalent to 600 (95% CI, 350-830) fewer breast cancers (out of about 9000 incident breast cancers annually for women this age). There was no significant change in breast cancer incidence for women aged < 50 years. CONCLUSIONS: While other factors may have contributed to a recent reduction in breast cancer incidence among Australian women aged > or = 50 years, the available evidence suggests that much of the decrease is due to the recent fall in use of HRT. This is consistent with other evidence that the HRT-associated increase in risk of breast cancer is reversible after ceasing use of HRT.     

妊娠中期孕妇血清三联生化标记物在出生缺陷筛查中的应用价值

目的：探讨妊娠中期孕妇血清三联生化标记物在出生缺陷筛查中的应用价值。方法选择我院2014年12月至2015年12月收治的妊娠中期(15~20+6周)孕妇5922例,对所有孕妇进行甲胎蛋白(AFP)、游离人绒毛膜促性腺激素(Free-β-HCG)、游离雌三醇(uE3)等血清生化指标检测,利用产前筛查软件评估其出生缺陷及危险性。结果血清学筛查孕妇中高风险共473例,其中21-三体综合征高风险416例,18-三体综合征高风险5例, NTD高风险52例;不同年龄区间高风险的分布比较差异无统计学意义(P>0.05);21-三体高风险、18-三体高风险及NTD高风险检出数集中分布于孕周16~19周,检出数分别为416例、5例、52例,三组检出数比较差异无统计学意义(P>0.05);筛查高风险组妊娠结局异常率3.38%(16/473),明显高于筛查低风险组的0.99%(54/5449),差异具有统计学意义(P<0.05);年龄在20~34岁孕妇出生缺陷异常率为2.03%(118/5812),低于35~41岁孕妇异常率的4.55%(5/110),差异具有统计学意义(P<0.05)。结论妊娠中期孕妇血清三联生化标记物作为21-三体综合征、18三体综合征及NTD等重要出生缺陷筛查指标,能有效降低胎儿出生缺陷发生率,对提高人口素质具有积极意义。     

Variations de l''incidence des fractures de l''extrémité supérieure du fémur chez les personnes agées de la région de Québec.

To estimate the incidence of fracture of the proximal end of the femur in people aged 50 years or older living in the Quebec area in 1971, 1976 and 1981 we determined the number of admissions for such fractures to the 15 acute care hospitals in the region. From 1971 to 1981 the number of fractures increased by 71%; the increases for those aged 75 to 84 years and 85 years or over were 98% and 118% respectively. The variation is only partly explained by changes in sex and age distribution of the population; the incidence rates also increased. Among men aged 75 to 84 years the incidence rate per 1000 person-years rose from 2.63 in 1971 to 5.22 in 1981, an increase of 98%; the corresponding figures for men aged 85 years or more were 9.76 and 16.91, an increase of 73%. Among women aged 75 to 84 years the rate rose from 7.28 to 8.81, an increase of 21%; the corresponding figures for women aged 85 years or more were 20.40 and 24.27, an increase of 21% and 19% respectively.