生殖异常者染色体分析

目的：探讨造成流产，死胎，不孕（不育），闭经和出生缺陷等生殖异常的细胞生物学原因。方法：对我院1999年6月－2001年6月780例优生遗传咨询者外周血G带染色体进行分析。结果：染色体异常占受检人数的4．5％（35／780）（男性25例，女性患者10例），染色体异态，占受检人数的9．6％（75／780），染色体异常和异态患者中患有反复自发流产，死胎等不良妊娠者为16．4％（71／432），不孕不育为50．0％（29／58），闭经患者为9．7％（3／31），在染色体异常核型中，数目异常占57．1％（20／35），染色体结构异常占37．2％（13／35），嵌合体占5．7％（2／35），结论：生殖异常与染色体异常和异态有着密切的关系。     

生殖异常与染色体异态性关系的探讨

对2406例生殖异常患者进行D/G组染色体的着丝粒区(cen)和随体区(s)、副缢痕区(qh)、Y长臂(Yq)增加和9号臂间倒位等染色体异态性进行研究,发现异态率12.55％。自发流产、死胎、出生缺陷、无精子症、精子畸形、闭经、不孕患者染色体异态率分别为12.81％、9.18％、14.02％、14.18％、19.44％、8.92％、7.14％。各种类型染色体异态率inv(9)为1.08％、qh+1.83％、D/Gs+3.37％、D/G着丝粒增加0.37％、大Y11.45％。随着流产次数增加异态率亦明显增加,研究结果表明染色体异态与生殖异常有关。     

146例染色体异常核型临床分析

目的:对146例染色体异常核型进行临床分析,探讨各类异常染色体畸变与其表型效应的关系。方法:外周血淋巴细胞培养,染色体常规G显带分析。结果:146例外周血染色体异常核型中常染色体数目异常占4.8％(7/146);常染色体结构异常占29.5％(43/146);性染色体数目异常占54.1％(79/146);性染色体结构异常占8.9％(13/146);嵌合型占3.4％(5/146)。染色体异常患者中智力低下4.8％(7/146);反复自发流产22.6％(33/146);生育死胎、畸胎6.1％(9/146);男性不育症57.5％(84/146);闭经6.8％(1/146);原因不明性不孕2.7％(4/146)。146例异常核型涉及除19、20号染色体外其他染色体。结论:对久治不愈的不孕不育,反复自发流产、死胎、畸胎和闭经等患者应进行染色体检查,以排除染色体畸变的可能。     

闭经患者的细胞遗传学分析

目的分析闭经患者的异常核型形成的可能原因及其与临床症状的关系.方法对92例闭经患者进行外周血染色体常规分析.结果共发现染色体异常35例,占全部被检者的38.04%.其中原发性闭经60例,检出异常核型32例(53.33%);继发性闭经32例,检出异常核型3例(9.38%).性染色体异常大体上分为3大类含Y染色体(3例);X染色体数目异常(27例);X染色体结构异常(5例).嵌合体以45,XO系为主,共10例.结论对原发性闭经患者应常规行外周血染色体检查,以明确闭经的原因,及早对症治疗;继发性闭经,尤其是25岁以下的患者也应及时进行染色体检查.     

1056例细胞遗传学分析与临床意义的探讨

目的:探讨细胞遗传学分析与临床意义。方法:对先天畸形、生长发育迟缓、智力低下、小睾丸、始基子宫、原发或继发闭经、流产及死胎等1 056例患者,采用细胞遗传学技术,开展染色体检查,并对其进行分析。结果:发现164例染色体异常核型,占全部受检病例的15.53%。其中21-三体综合征(Down's)47例,占染色体异常核型的28.66%;性染色体异常61例,占染色体异常核型的37.20%;染色体结构异常45例,占染色体异常核型的27.44%;染色体多态性11例,占染色体异常核型的6.71%。结论,先天畸形、性器官发育不全、习惯性流产、不孕不育等,染色体异常是致病的重要原因。     

3889例临床细胞遗传学现状分析

目的:对先天畸形、生长发育迟缓、智力低下、小睾丸、基始子宫、原发或继发闭经、不孕不育、反复流产及死胎等就诊患者进行分析,了解不孕不育患者的增长趋势。方法:通过对1991～2011年来医院就诊并行染色体检查的患者,采用细胞遗传学技术开展染色体检查并进行统计分析。结果:3 889例染色体检查患者中832例染色体异常核型,占全部受检病例的21.4%。其中21三体综合征(Down's)288例、性染色体异常367例、染色体结构异常378例、染色体数目异常435例、染色体易位核型74例和染色体多态性74例,分别占染色体异常核型的34.6%、44.1%、45.4%、52.3%、8.9%和8.9%。结论:染色体异常是先天畸形、性器官发育不全、习惯性流产、不孕不育等致病的重要原因。     

染色体多态性与女性不良孕产关系探讨

目的研究染色体多态性与女性生殖异常的关系。方法对2007年1月-2015年6月在本院妇产科就诊的2 462例女性遗传咨询者,进行外周血染色体核型分析。结果 2 462例遗传咨询者共检出染色体多态性核型38例,占1.54%。其中D/G组随体增加9例,占23.68%;次缢痕增加12例,占31.58%;9号染色体臂间倒位17例,占44.74%。染色体多态性组的复发性流产发生率明显高于对照组,差异有统计学意义(P0.01);死胎和生育智障儿发生率与对照组差异无统计学意义(P0.05)。从临床表现来看,在不孕、胎儿畸形及出生缺陷、胚胎停止发育的女性中,其染色体多态性变异的发生率分别为3.93%、7.32%、8.97%。结论染色体多态性与复发性流产、胎儿异常存在相关性,对不良妊娠史者应进行外周血染色体检查。     

生殖与节育：510例不育症患者的细胞遗传学研究

在育龄夫妇中有10％患有不育。引起不育的原因比较复杂，染色体异常是重要原因之一。不育患的染色体畸变种类较多，它们在不育症中的作用各不相同。沈阳市生殖医学技术研究中心于1996年、1998年对习惯性流产夫妇、无精子症、闭经及其他原因不育患共510例进行外周血淋巴细胞染色体检查，G显带，发现异常核型33例，异常率为6．5％。其中，性染色体异常28例，占异常核型的84．8％(28／33)。常染色体异常5例，占异常核型15．2%(15／33)。此外，发现染色体多态16例，占总受检人数的3．1％(16／510)。     

男性生殖异常与染色体异常关系的探讨

目的分析不同生殖异常男性染色体异常和染色体多态的发生率,探讨染色体数量、结构异常与临床效应的相关性。方法选取2009年6月至2011年6月贵阳医学院附属医院就诊的生殖异常男性1 200例,对患者进行病史采集、体格检查、精液常规分析、G显带染色体核型分析。结果 1 200例患者中无精子症85例(7.1%),少弱畸精子症77例(6.4%),习惯性流产97例(8.1%),不明原因不育35例(2.9%);检出染色体异常122例(10.2%),其中数量异常53例(4.4%),结构异常57例(4.8%),反转性别12例(1.0%);染色体多态216例(18.0%);无精子症患者中Y染色体异常发生率为28.2%;少弱精子症和习惯性流产与Y染色体异常和染色体的易位、倒位密切相关。结论生育异常与染色体核型异常有着密切的关系,对生育异常患者进行染色体核型分析,有利于临床诊断,也可为遗传咨询提供依据。     

遗传咨询587例资料分析

587例咨询者中404例进行了外周血染色体的检查,染色体异常检出率为9.65%.对原发和继发性闭经及性分化异常检出率较高,达34.78%.其中性染色体异常类患者经细胞遗传学检查对明确诊断有重要意义.有分娩过先天性缺陷儿病史者及新生儿死亡、死胎、死产、流产史者,占总数的51.96%,虽异常染色体检出率不很高,但在咨询工作量中占有较大的比例.智力低染色体核型异常者,其父母在生育该患儿时年龄在38岁以上,说明适龄生育的重要性.     

Infertility, medical advice and treatment with fertility hormones and/or in vitro fertilisation: a population perspective from the Australian Longitudinal Study on Women's Health

Objective: To identify the factors associated with infertility, seeking advice and treatment with fertility hormones and/or in vitro fertilisation (IVF) among a general population of women.
Methods: Participants in the Australian Longitudinal Study on Women's Health aged 28-33 years in 2006 had completed up to four mailed surveys over 10 years (n=9,145). Parsimonious multivariate logistic regression was used to identify the socio-demographic, biological (including reproductive histories), and behavioural factors associated with infertility, advice and hormonal/IVF treatment.
Results: For women who had tried to conceive or had been pregnant (n=5,936), 17% reported infertility. Among women with infertility (n=1031), 72% (n=728) sought advice but only 50% (n=356) used hormonal/IVF treatment. Women had higher odds of infertility when: they had never been pregnant (OR=7.2, 95% CI 5.6-9.1) or had a history of miscarriage (OR range=1.5-4.0) than those who had given birth (and never had a miscarriage or termination).
Conclusion: Only one-third of women with infertility used hormonal and/or IVF treatment. Women with PCOS or endometriosis were the most proactive in having sought advice and used hormonal/IVF treatment.
Implications: Raised awareness of age-related declining fertility is important for partnered women aged ∼30 years to encourage pregnancy during their prime reproductive years and reduce the risk of infertility.     

Y染色体异常对男性生育力的影响

目的:探讨Y染色体异常对男性生育力的影响。方法:对1656例遗传咨询者进行外周血淋巴细胞常规培养,制备染色体G显带标本,镜下核型分析。结果:1656例遗传咨询者中,检出Y染色体异常30例,异常率为1.81%(30/1656)。其中Y染色体数目异常5例,占异常率的16.67%;Y染色体结构异常25例,占异常率的83.33%。检出45,X0/46,XY嵌合体4例;罗伯逊易位45,X,-Y,-13,+t(Y;13)(p1;q10)1例;大Y11例;小Y14例。结论:Y染色体异常对男性生育力有重要影响。     

Infertility in Australia circa 1980: an historical population perspective on the uptake of fertility treatment by Australian women born in 1946‐51

Objective: To estimate the prevalence of lifetime infertility in Australian women born in 1946‐51 and examine their uptake of treatment. Methods: Participants in the Australian Longitudinal Study on Women's Health born in 1946‐51 (n=13,715) completed up to four mailed surveys from 1996 to 2004. The odds of infertility were estimated using logistic regression with adjustment for socio‐demographic and reproductive factors. Results: Among participants, 92.1% had been pregnant. For women who had been pregnant (n=12738): 56.5% had at least one birth but no pregnancy loss (miscarriage and/or termination); 39.9% experienced both birth and loss; and 3.6% had a loss only. The lifetime prevalence of infertility was 11.0%. Among women who reported infertility (n=1511), 41.7% used treatment. Women had higher odds of infertility when they had reproductive histories of losses only (OR range 9.0‐43.5) or had never been pregnant (OR=15.7, 95%CI 11.8‐20.8); and higher odds for treatment: losses only (OR range 2.5‐9.8); or never pregnant (1.96, 1.28‐3.00). Women who delayed their first birth until aged 30+ years had higher odds of treatment (OR range 3.2‐4.3). Conclusions: About one in ten women experienced infertility and almost half used some form of treatment, especially those attempting pregnancy after 1980. Older first time mothers had an increased uptake of treatment as assisted reproductive technologies (ART) developed. Implications: This study provided evidence of the early uptake of treatment prior to 1979 when the national register of invasive ART was developed and later uptake prior to 1998 when data on non‐invasive ART were first collected.     

“These are not good things for other people to know”: How rural Tanzanian women’s experiences of pregnancy loss and early neonatal death may impact survey data quality

Little research in low-income countries has compared the social and cultural ramifications of loss in childbearing, yet the social experience of pregnancy loss and early neonatal death may affect demographers’ ability to measure their incidence. Ninety-five qualitative reproductive narratives were collected from 50 women in rural southern Tanzania who had recently suffered infertility, miscarriage, stillbirth or early neonatal death. An additional 31 interviews with new mothers and female elders were used to assess childbearing norms and social consequences of loss in childbearing. We found that like pregnancy, stillbirth and early neonatal death are hidden because they heighten women’s vulnerability to social and physical harm, and women’s discourse and behaviors are under strong social control. To protect themselves from sorcery, spiritual interference, and gossip—as well as stigma should a spontaneous loss be viewed as an induced abortion—women conceal pregnancies and are advised not to mourn or grieve for “immature” (late-term) losses. Twelve of 30 respondents with pregnancy losses had been accused of inducing an abortion; 3 of these had been subsequently divorced. Incommensurability between Western biomedical and local categories of reproductive loss also complicates measurement of losses. Similar gender inequalities and understandings of pregnancy and reproductive loss in other low-resource settings likely result in underreporting of these losses elsewhere. Cultural, terminological, and methodological factors that contribute to inaccurate measurement of stillbirth and early neonatal death must be considered in designing surveys and other research methods to measure pregnancy, stillbirth, and other sensitive reproductive events.     

Caffeine intake during pregnancy, late miscarriage and stillbirth

Caffeine is a commonly consumed drug during pregnancy with the potential to affect the developing fetus. Findings from previous studies have shown inconsistent results. We recruited a cohort of 2,643 pregnant women, aged 18–45 years, attending two UK maternity units between 8 and 12 weeks gestation from September 2003 to June 2006. We used a validated tool to assess caffeine intake at different stages of pregnancy and related this to late miscarriage and stillbirth, adjusting for confounders, including salivary cotinine as a biomarker of smoking status. There was a strong association between caffeine intake in the first trimester and subsequent late miscarriage and stillbirth, adjusting for confounders. Women whose pregnancies resulted in late miscarriage or stillbirth had higher caffeine intakes (geometric mean = 145 mg/day; 95% CI: 85–249) than those with live births (103 mg/day; 95% CI: 98–108). Compared to those consuming < 100 mg/day, odds ratios increased to 2.2 (95% CI: 0.7–7.1) for 100–199 mg/day, 1.7 (0.4–7.1) for 200–299 mg/day, and 5.1 (1.6–16.4) for 300+ mg/day (P _trend = 0.004). Greater caffeine intake is associated with increases in late miscarriage and stillbirth. Despite remaining uncertainty in the strength of association, our study strengthens the observational evidence base on which current guidance is founded.     

Miscarriage but Not Stillbirth Rates Are Higher Among Younger Nulliparas in Rural Southern Nepal

PURPOSE: To examine the impact of young maternal age on miscarriages and stillbirths in rural Southern Nepal. METHOD: Pregnancies, miscarriages, and stillbirths were prospectively identified in two randomized trials of maternal micronutrient supplementation. This analysis included 5861 women of parity 0 (nulliparas) and 4459 of parity 1 (primiparas) who were <26 years of age. RESULTS: Among nulliparous women, 5.7% and 4.6% of pregnancies ended in miscarriage and stillbirth. The adjusted relative risk of miscarriage was 2.07 for girls <15 (95% confidence interval [CI] = 1.17-3.66) compared with those 18 and 19 years, and was 1.40 (95% CI = 1.06-1.84) among those 15-17 years. Stillbirth rates did not differ significantly by maternal age. There were no differences in miscarriage or stillbirth rates by maternal age among primiparas. CONCLUSION: Young maternal age increased the risk of miscarriages but not stillbirths for nulliparas. Miscarriages and stillbirths did not differ by maternal age for primiparous women.     

Risk of Cardiovascular Disease Among Postmenopausal Women with Prior Pregnancy Loss: The Women’s Health Initiative

PURPOSE

Metabolic, hormonal, and hemostatic changes associated with pregnancy loss (stillbirth and miscarriage) may contribute to the development of cardiovascular disease (CVD) in adulthood. This study evaluated prospectively the association between a history of pregnancy loss and CVD in a cohort of postmenopausal women.

METHODS

Postmenopausal women (77,701) were evaluated from 1993–1998. Information on baseline reproductive history, sociodemographic, and CVD risk factors were collected. The associations between 1 or 2 or more miscarriages and 1 or more stillbirths with occurrence of CVD were evaluated using multiple logistic regression.

RESULTS

Among 77,701 women in the study sample, 23,538 (30.3%) reported a history of miscarriage; 1,670 (2.2%) reported a history of stillbirth; and 1,673 (2.2%) reported a history of both miscarriage and stillbirth. Multivariable-adjusted odds ratio (OR) for coronary heart disease (CHD) for 1 or more stillbirths was 1.27 (95% CI, 1.07–1.51) compared with no stillbirth; for women with a history of 1 miscarriage, the OR = 1.19 (95% CI, 1.08–1.32); and for 2 or more miscarriages the OR = 1.18 (95% CI, 1.04–1.34) compared with no miscarriage. For ischemic stroke, the multivariable odds ratio for stillbirths and miscarriages was not significant.

CONCLUSIONS

Pregnancy loss was associated with CHD but not ischemic stroke. Women with a history of 1 or more stillbirths or 1 or more miscarriages appear to be at increased risk of future CVD and should be considered candidates for closer surveillance and/or early intervention; research is needed into better understanding the pathophysiologic mechanisms behind the increased risk of CVD associated with pregnancy loss.     

Pregnancy Loss and Distress Among U.S. Women

Although pregnancy loss—especially miscarriage—is a relatively common experience among reproductive‐aged women, much of our understanding about the experience has come from small clinic‐based or other nonrepresentative samples. We compared fertility‐specific distress among a national sample of 1,284 women who have ever experienced a stillbirth or miscarriage. We found that commitment/attachment to pregnancy that ended in loss as well as current childbearing contexts and attitudes were associated with distress following pregnancy loss. Practitioners working with women or couples who have experienced pregnancy loss should be aware of the importance of characteristics associated with higher distress, such as whether the pregnancy had been planned, recency of the loss, no subsequent live births, having a medical explanation for the loss, a history of infertility, current childbearing desires, importance of motherhood, and locus of control over fertility.     

117例大小Y染色体临床意义分析

目的探讨大小Y染色体核型的临床意义。方法用外周血淋巴细胞培养、G显带技术分析。结果117例大Y染色体患者中生精异常17例(包括少精、无精)、外生殖器发育不良11例、其妻习惯性流产36例、胎停育35例、有其它不良孕产史18例(包括出生缺陷、死胎、早产等);57例小Y染色体患者中生精异常14例、外生殖器发育不良8例,其妻子习惯性流产15例、胎停育9例、有其它不良孕产史11例。结论Y染色体的变异均会不同程度地导致临床效应。     

核苷酸微阵列技术在复发性流产发病机制及潜在致病位点中的应用研究

目的探讨核苷酸微阵列技术在复发性流产发病机制及潜在致病位点中的应用价值。方法选取2017年7月1日-2019年6月30日在深圳市罗湖区妇幼保健院妇产科门诊确诊为复发性流产的患者60例,均留取流产物样本。应用Affymetrix Cyto Scan HD探针对样本进行SNP array检测,通过Affymetrix Chromosome Analysis Suite软件采用隐马科夫模型算法确定全基因组染色体区域的重复和缺失。结果 60例研究标本检测成功率为100. 00%,共检测出44例样本异常,其中三倍染色体异常4例(6. 67%),染色体微小的缺失或重复3例(5. 00%),X染色体缺失8例(13. 33%),单亲二倍体1例(1. 67%),2号染色体重复1例(1. 67%),4号染色体重复1例(1. 67%),9号染色体重复1例(1. 67%),13号染色体重复2例(3. 33%),14号染色体重复1例(1. 67%),15号染色体重复1例(1. 67%),16号染色体重复10例(16. 67%),17号染色体重复1例(1. 67%),18号染色体重复2例(3. 33%),20号染色体重复1例(1. 67%),21号染色体重复4例(6. 67%),22号染色体重复3例(5. 00%)。其中年龄≥35岁患者的样本异常率为88. 89%(16/18),高于年龄≤35岁患者的66. 67%(28/42),差异有统计学意义(P>0. 05)。结论所有标本检测成功率达100. 00%,检出染色体异常率达73. 33%。染色体重复、缺失是复发性流产的主要原因,其中染色体数目异常,X染色体缺失,16号、21号和22号染色体异常为主要潜在致病位点。核苷酸微阵列技术可检测出染色体数目、结构异常以及染色体微小缺失,有助于全面了解复发性流产染色体异常状况,指导再次生育流产风险评估。