2008年汶川大地震灾后高龄经产妇再次妊娠结局分析

目的 分析2008年汶川大地震后地震重灾区高龄妇女再次妊娠结局,为高龄妇女的孕前保健提供参考。方法 回顾性调查接受地震重灾区再生育全程服务的542例妊娠经产妇的临床资料,根据妊娠终止年龄分为高龄组（≥35岁）和非高龄组（<35岁）,比较两组妊娠结局,包括基本情况、妊娠率、妊娠合并症/并发症、妊娠结果及围产儿情况。结果 2008~2013年542例再生育妇女（高龄组366例,非高龄组176例）共妊娠622人次,生育（足月和早产）517人次,活产522人（双胎6例）,有出生缺陷3例。高龄组的两年内累积妊娠率低于非高龄组,高龄组妊娠高血压疾病、妊娠期糖尿病、多胎、胎儿宫内窘迫、低出生体重儿、出生缺陷的发生率较高,非高龄组足月活产率较高、流产率较低,但差异无统计学意义。结论 接受地震灾区再生育全程服务的高龄经产妇再次妊娠结局与非高龄经产妇相当。     

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.     

围孕期保健对出生缺陷的影响分析

目的：分析围孕期保健对围产儿出生缺陷的影响。方法：选取西安市第四医院2013年10月1日∽2013年12月25日收治1716例产妇为研究对象,对其临床资料进行回顾分析。结果：围孕期叶酸的补充可以显著降低神经管畸形的发生风险,差异有统计学意义（P＜0．05）;围孕期营养状况及孕妇的家庭收入等因素为减少出生缺陷发生的保护性因素,差异有统计学意义（P＜0．05）;出生缺陷的危险因素分别为孕妇接触职业危险因素、孕期患慢性病、孕期感冒、孕早期出血流产症状、孕期接触宠物、孕前或孕期房屋新装修、被动吸烟、孕期服药及孕期精神紧张或过度焦虑,差异有统计学意义（P＜0．05）。结论：通过加强围孕期保健,减少和控制孕期危险因素,可以预防和减少出生缺陷,提高人口出生质量。     

异常生育史与遗传性家族史、孕期危险因素的多重对应分析

目的 分析异常生育史与遗传性家族史、孕期危险因素暴露的多重对应关系,为进一步完善出生缺陷监测系统和降低出生缺陷发生率提供新的科学依据。方法 对2003至2015年西安市各级开设产科的医疗保健机构分娩的孕28周至生后7 d的围产儿进行出生缺陷监测,并收集相关资料。结果 共监测围产儿1 236 937例,其中出生缺陷患儿10 619例,平均出生缺陷发生率为0.86%(0.70%~1.15%)。多重对应分析显示生育出生缺陷患儿(既往生育1个或2个出生缺陷患儿)与自然流产史、遗传性家族史、有毒有害物质接触史有关,既往生育≥3个出生缺陷患儿与遗传性家族史接近相同区域且距离更近,关系更密切。有自然流产史产妇(257/10 619)再次生育出生缺陷患儿类型依次为先天性心脏病、多指(趾)、神经管缺陷、先天性脑积水、唇裂合并腭裂、单纯唇裂;生育过出生缺陷患儿的产妇(135/10 619)再次生育出生缺陷患儿类型依次为唇裂合并腭裂、无脑畸形、脑积水、神经管缺陷、唇裂、马蹄内翻足。结论 异常生育史与孕期危险因素暴露和遗传性家族史均相关,既往生育≥3个出生缺陷患儿与遗传性家族史关系更密切。     

Down's syndrome in South Australia.

In a survey of Down's syndrome in South Australia, 921 persons, both living and deceased, were identified; 717 individuals with the disorder were living in South Australia. Cytogenetic confirmation of the diagnosis had been made in 774 cases. From 1955 to 1977, the over-all incidence of Down's syndrome at birth was found to be 1.175/1000 live births. The incidence of Down's syndrome was significantly lower over the last five years of this period than for the first 18 years; thus it appears that the incidence of Down's syndrome in South Australia is falling. Analysis of maternal age changes with time has not revealed any changes to the maternal age-specific rates for Down's syndrome, although the rate for mothers aged 25 years or younger appears to be falling. The proportion of Down's syndrome babies born to women aged 35 years or more has decreased from 65.7% for those born before 1950 to 30.4% for those born from 1975 to 1977; similarly, the median maternal age has fallen from 37.12 years to 28.25 years. Regression analyses of maternal age rates for Down's syndrome by single years have produced figures suitable for genetic counselling. A plea is made that Down's syndrome should become a notifiable condition.     

浙江省兰溪市2000-2010年围产儿出生缺陷及相关因素分析

目的：分析浙江省兰溪市围产儿出生缺陷的基本情况及动态变化,探索影响该市围产儿出生缺陷的主要原因和预防策略。方法：对2000-2010年兰溪市妇幼保健院产科出生缺陷资料进行统计分析。结果：9458例围产儿中发生出生缺陷216例,总出生缺陷发生率28.86‰;出生缺陷儿死亡率3.62‰。出生缺陷前五位的是唇腭裂、神经管发育畸形、无脑儿、先天性心脏病、脐疝;出生缺陷发生率与孕产妇年龄成正比,36岁以上孕妇是发生出生缺陷的高危因素;农村出生缺陷的发生率高于城市。结论：加强育龄孕妇产前筛查、农村育龄妇女孕期护理和相关知识的普及,降低围产儿的出生缺陷发生率。     

Delayed childbearing and risk of adverse perinatal outcome. A population-based study.

OBJECTIVE--To investigate the effect of advancing maternal age on pregnancy outcome among healthy nulliparous women, after adjustment for demographic characteristics, smoking, history of infertility, and other medical conditions. DESIGN--A population-based cohort study was conducted with prospectively collected data from the Swedish Medical Birth Register. PATIENTS--Nulliparous Nordic women (N = 173,715), aged 20 years and above, who delivered single births at Swedish hospitals from 1983 through 1987. OUTCOME MEASURES--Late fetal and early neonatal death rates; rates of very low birth weight (VLBW, less than 1500 g), moderately low birth weight (MLBW, 1500 through 2499 g), very preterm delivery (less than or equal to 32 weeks), moderately preterm delivery (33 through 36 weeks), and small-for-gestational-age (SGA) infants (less than -2 SDs). RESULTS--Compared with women aged 20 to 24 years, women aged 30 to 34 years had significantly higher adjusted odds ratios (ORs) of late fetal deaths (OR = 1.4); VLBW (OR = 1.2); MLBW (OR = 1.4); very preterm birth (OR = 1.2); and SGA infants (OR = 1.4). Among women aged 35 to 39 years, the adjusted OR was significantly higher for VLBW (OR = 1.9); MLBW (OR = 1.7); very preterm birth (OR = 1.7); moderately preterm birth (OR = 1.2); and SGA infants (OR = 1.7). Among women 40 years old and older, the adjusted OR was significantly higher for VLBW (OR = 1.8); MLBW (OR = 2.0); very preterm birth (OR = 1.9); moderately preterm birth (OR = 1.5); and SGA infants (OR = 1.4). CONCLUSIONS--Delayed childbearing is associated with an increased risk of poor pregnancy outcomes after adjustment for maternal complications and other risk factors.     

黄山市2006～2010年出生缺陷调查结果分析

目的了解黄山市0～5岁儿童出生缺陷的发生率、种类及顺位,确定重点预防人群和区域。方法采用个人访谈、整群回顾性调查的方法对黄山市三区四县101个乡镇和6个街道在2006年1月1日至2010年12月31日期间出生的围生儿(包括死胎、死产和治疗性引产)和0～5岁儿童及其产母入户调查。出生缺陷以临床诊断为依据。病种的定义参照国家出生缺陷监测方案。结果 5年明确患有出生缺陷病的有981例。出生缺陷发生率为158.69/万。其中男婴出生缺陷发生率82.82/万,女婴出生缺陷发生率63.57/万。排在前6位的是先天性心脏病、总唇腭裂、多指(趾)、先天性脑积水、泌尿系统畸形和神经管畸形。结论黄山市0～5岁儿童出生缺陷发生状况在不同年度有明显不同,呈逐年上升趋势,农村高于城市,男婴高于女婴。应将预防工作的重点放在农村,提高孕母文化卫生知识,尤其加强前6位发病率较高病种的预防。积极寻找出生缺陷的原因,为进一步防治提供依据。     

侵入性产前诊断指征与染色体核型检出结果的对比分析

目的 探讨侵入性产前诊断指征选择对胎儿染色体异常核型检测的意义.方法 对我院2004-07～2009-09间1 133例因妊娠中期孕母血清学筛查高危、孕母年龄≥35岁、超声筛查或检查异常、不良孕产史（包括自然流产史、死胎死产、胎儿畸形、出生缺陷）等不同指征的孕妇进行侵入性产前诊断,取材羊水或脐带血,经培养成功后进行染色体核型分析,指征分单一指征及复合指征.结果 全部病例中共检出异常核型38例（3.35%）.在单一的指征中,超声测量胎儿NT值增高、母高龄、母血清学筛查高危的常染色体三体（包括21＋三体、18-三体）检出率分别为5.0%、1.62%和0.49% 总的异常核型检出率最高为生育畸形儿或畸胎史11.76%,其次为胎儿B超异常6.9%,自然流产史5.9%.而复合指征中,高龄＋NT值增高的常染色体三体检出率为14.29% 高龄＋胎儿B超异常的常染色体三体检出率为5.88% 总异常核型检出率为17.65%.结论 对高龄孕妇直接进行产前诊断,仍是一条检测出胎儿常染色体三体综合征的主要途径.关注超声检测胎儿NT值增高、胎儿异常以及有不良孕产史孕妇,尽可能地在孕期检出患有染色体疾病的胎儿,降低出生缺陷.     

2006年珠海市围产儿出生缺陷监测及干预研究

目的了解珠海市围产儿出生缺陷现状,探讨出生缺陷发生的相关因素,降低出生缺陷和残疾发生率,提高出生人口素质。方法根据珠海市出生缺陷监测方案,对全市35家医疗机构围产儿进行监测。结果出生缺陷发生率男性高于女性(X2=15.64,P<0.001),城市高于农村(X2=6.39,P=0.01),年龄<20岁的孕妇出生缺陷发生率明显高于其它人群,妇女最佳受孕年龄是20∽25岁。珠海市发生率最高的前5种疾病排序依次是:骨关节畸形、先心病、泌尿生殖系统畸形、唇腭裂、外耳畸形。结论珠海市围产儿出生缺陷发生率呈上升趋势。孕前期及孕妇早期口服小剂量叶酸预防神经管畸形,提高产前筛查和产前诊断技术,加强孕期保健,提高环保意识,这些是降低出生缺陷发生的有力措施。     

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。     

Family history and the risk of breast cancer

To investigate whether a family history of breast cancer increases a woman's risk of developing breast cancer, we analyzed data from the Centers for Disease Control's Cancer and Steroid Hormone Study. The 4,735 cases were women 20 to 54 years old with a first diagnosis of breast cancer ascertained from eight population-based cancer registries; the 4,688 controls were women selected at random from the general population of these eight areas. Compared with women without a family history of breast cancer, women who had an affected first-degree relative had a relative risk of 2.3; women with an affected second-degree relative had a relative risk of 1.5; and women with both an affected mother and sister had a relative risk of 14. The risk of breast cancer for a woman was higher if her first-degree relative had unilateral rather than bilateral breast cancer or had breast cancer detected at a younger rather than older age. For women aged 20 to 39, 40 to 44, and 45 to 54 years, the estimated annual incidence of breast cancer per 100,000 women attributable to a first-degree family history of breast cancer was 51.9, 115.1, and 138.6, respectively, and that attributable to a second-degree family history of breast cancer was 12.1, 19.2, and 92.4, respectively.     

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

INTRODUCTION

First trimester screening (FTS) is a validated screening tool that has been shown to achieve detection rates of 84%–90% for trisomies 21, 18 and 13. However, its effectiveness for different maternal ages has not been assessed. The present study aimed to assess the performance of FTS in an Asian population, and to compare its effectiveness in older (≥ 35 years) and younger (< 35 years) women. The potential use of noninvasive prenatal test (NIPT) as a contingent screening test is also examined.

METHODS

Data on cases of FTS performed on singleton pregnancies over a six-year period was collated from two Singapore maternal centres, National University Hospital and Singapore General Hospital. Cases that had a 1:250 risk of trisomy were considered to be screen-positive. Pregnancy outcomes were obtained from birth records or karyotype test results.

RESULTS

From 10,289 FTS cases, we obtained a sensitivity of 87.8%, a specificity of 97.6%, a false positive rate of 2.4% and a false negative rate of 0.06% for the detection of aneuploidy. The overall detection rate for trisomy 21 was 86.5%–85.7% for older women and 87.5% for younger women. The mean number of invasive tests required per case of trisomy 21 was 9.3 in younger women, 8.6 in older women and 13.5 in women with intermediate risk (1:250–1,000).

CONCLUSION

While the performance of FTS was similar in younger and older women, more invasive procedures were required to diagnose trisomy 21 in women with intermediate risk. It may be advantageous to offer contingent NIPT to this group of women to reduce the risk of iatrogenic fetal loss.     

宁夏1996-2008年围产儿出生缺陷监测结果分析

目的了解和分析宁夏地区围产儿出生缺陷的发生情况和影响因素,为制定干预措施提供依据。方法按照全国出生缺陷监测方案要求,对1996-2008年在医院分娩的333404例围产儿进行监测。结果监测人口占出生人口的35.82%,共发现出生缺陷儿3537例,出生缺陷总发生率为106.09/万,近几年来出生缺陷发生率呈上升趋势;前五位出生缺陷依次为神经管缺陷、总唇裂、多指（趾）、先天性脑积水、马蹄内翻足。出生缺陷发生率农村高于城镇;孕妇≤20岁和≥35岁高于20-29岁年龄组。结论宁夏产前筛查、产前诊断水平亟待提高,需进一步加强孕产妇系统保健管理,积极开展健康教育工作以降低出生缺陷发生率。     

Maternal mortality in women aged 35 years or older: United States

To examine maternal mortality among women aged 35 years or older, we used death certificates from the United States for 1974 through 1978. There were 425 maternal deaths, corresponding to a mortality rate of 58.3 deaths per 100,000 live births. This rate was higher than the rate for women 20 through 34 years of age (race-adjusted relative risk [RR] = 4.0; 95% confidence interval [CI], 3.6 to 4.4). The leading causes of death were obstetric hemorrhage and embolism. Black women had higher mortality rates than white women for deaths without abortive outcomes (RR = 3.3; CI, 2.7 to 4.1) and with abortive outcomes (RR = 9.4; 95% CI, 5.8 to 15.3), and the latter difference was largely due to a higher rate of deaths associated with ectopic pregnancy among black women. From 1974 through 1978, compared with 1982, maternal mortality rates for women aged 35 years or older reported by the National Center for Health Statistics declined approximately 50%. Among white women, changes in age and parity accounted for less than half of this decrease, suggesting that improvements have occurred in age- and parity-specific mortality for women aged 35 years or older.     

2008—2020年江苏省淮安市围产儿出生缺陷变化趋势及影响因素分析

目的：分析2008—2020年淮安市围产儿出生缺陷的发生情况、变化趋势及其影响因素。方法：数据来源于江苏省淮安市妇幼卫生信息系统中2008—2020年的监测数据以及淮安市统计年鉴。以年度变化百分比和平均年度变化百分比（AAPC）为主要指标,采用JoinPoint回归描述十三年间淮安市出生缺陷发生的变化趋势。采用Spearman相关性分析探讨出生缺陷发生率与人口出生率、结婚登记率及高龄产妇分娩占比的相关性。结果：2008—2020年,淮安市共发生围产儿出生缺陷3414例,出生缺陷发生率为4.6‰（3414/736 608）,且表现为明显的上升趋势（AAPC=8.8%,t=3.2,P<0.01）,2016年为变化转折点。在24类出生缺陷中,先天性心脏病发病率急剧上升,已成为顺位第一疾病,而无脑畸形、脑膨出、脊柱裂等神经管缺陷发病率下降明显。出生缺陷率与人口出生率呈负相关（r=–0.751,P<0.01）,与结婚登记率无明显相关性（r=–0.516,P>0.05）,与高龄产妇分娩占比呈正相关（r=0.726,P<0.01）。结论：2008—2020年,淮安市出生缺陷发生率整体呈上升趋势,先天性心脏病已成为第一顺位的出生缺陷,高龄产妇分娩占比与出生缺陷之间关系密切。     

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.     

Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.

CONTEXT: Among cancer-free women aged 35 years or older, tamoxifen reduced the incidence of estrogen receptor (ER)-positive but not ER-negative breast cancer. The effect of tamoxifen on breast cancer incidence among women at extremely high risk due to inherited BRCA1 or BRCA2 mutations is unknown. OBJECTIVE: To evaluate the effect of tamoxifen on incidence of breast cancer among cancer-free women with inherited BRCA1 or BRCA2 mutations. DESIGN, SETTING, AND PARTICIPANTS: Genomic analysis of BRCA1 and BRCA2 for 288 women who developed breast cancer after entry into the randomized, double-blind Breast Cancer Prevention Trial of the National Surgical Adjuvant Breast and Bowel Project (between April 1, 1992, and September 30, 1999). MAIN OUTCOME MEASURE: Among women with BRCA1 or BRCA2 mutations, incidence of breast cancer among those who were receiving tamoxifen vs incidence of breast cancer among those receiving placebo. RESULTS: Of the 288 breast cancer cases, 19 (6.6%) inherited disease-predisposing BRCA1 or BRCA2 mutations. Of 8 patients with BRCA1 mutations, 5 received tamoxifen and 3 received placebo (risk ratio, 1.67; 95% confidence interval, 0.32-10.70). Of 11 patients with BRCA2 mutations, 3 received tamoxifen and 8 received placebo (risk ratio, 0.38; 95% confidence interval, 0.06-1.56). From 10 studies, including this one, 83% of BRCA1 breast tumors were ER-negative, whereas 76% of BRCA2 breast tumors were ER-positive. CONCLUSION: Tamoxifen reduced breast cancer incidence among healthy BRCA2 carriers by 62%, similar to the reduction in incidence of ER-positive breast cancer among all women in the Breast Cancer Prevention Trial. In contrast, tamoxifen use beginning at age 35 years or older did not reduce breast cancer incidence among healthy women with inherited BRCA1 mutations. Whether tamoxifen use at a younger age would reduce breast cancer incidence among healthy women with BRCA1 mutations remains unknown.     

Lung cancer in New South Wales: current trends and the influence of age and sex

OBJECTIVE: To examine the effects of time, sex and age at diagnosis on lung cancer incidence rates and the distribution of the histological types of lung cancer in New South Wales. DESIGN AND SETTING: Retrospective analysis of data from the NSW Cancer Registry and Australian Bureau of Statistics population data for NSW for 1985-1995. MAIN OUTCOME MEASURES: Trends in lung cancer incidence rates between 1985 and 1995 for men and women aged over 30 years; changes in incidence rates within age groups; and incidence rates of histological subtypes relative to sex and age. RESULTS: The incidence of lung cancer in men aged 40-80 years fell, while that in women aged over 65 rose. Rates were stable in younger women and older men. Incidence rates in men aged 40-60 years fell by 40%-60%. Were it not for the reduction in incidence rates in men between 1985 and 1995, the number of male lung cancer cases in 1995 would have been greater by 389 (95% CI, 362-415). In women, increasing incidence rates were responsible for an extra 242 cases (95% CI, 232-253) in 1995. Adenocarcinoma comprised a greater percentage of lung cancer cases in younger people, while squamous-cell carcinoma increases steadily with age in both men and women. Women with lung cancer are less likely to have squamous-cell carcinoma (25% for women v. 40% for men) and therefore more likely than men to have adenocarcinoma (35% of new female cases v. 26% for men) or small-cell lung cancer (24% v. 19%). CONCLUSIONS: Increased smoking cessation has seen a halving of lung cancer rates in middle-aged men. Whether this represents delayed or prevented cases is uncertain. The distribution of histological subtypes of lung cancer in women is different from that in men, and it is not clear whether this difference is hormone-dependent or related to historical patterns of smoking.     

Smoking and pregnancy.

Smoking is associated with decreased fertility in both males and females, an increased abortion rate, lowered birth weight, an increased still birth rate and probably an increased neonatal death rate. There is also a reduced incidence of maternal hypertension (although the babies are at even greater risk), an increased incidence of ante-partum haemorrhage, impaired brain development and possible teratogenic effects. These effects can be reversed if the mother gives up smoking in pregnancy.