COL1A1/COL1A2基因突变分析与成骨不全的产前基因诊断

目的对有成骨不全(Osteogenesis Imperfecta,OI)孕史的患者,进行系统B超及COL1A1/COL1A2基因检测,希望建立OI患儿产前诊断方案,为OI患儿进行产前诊断提供技术保障。方法对于有OI孕史的孕妇,进行系统B超监测;根据胎儿股骨、长骨的超声影像学表现,初诊为成骨不全。抽取羊水,采用直接测序法对羊水DNA的COL1A1和COL1A2基因全编码外显子及启动子区域进行突变位点检测。检出的新突变,对孕妇夫妇及家系其他成员直接测序证实。产前诊断标本均需做母血污染鉴定。结果胎儿超声影像学表现为股骨短小,胫腓骨弯曲成角,颅骨变薄且发现多处骨折,考虑OI。STR法鉴定,羊水无母血污染。DNA序列分析结果显示COL1A1基因鉴定出19个SNP位点,没有鉴定出突变位点;COL1A2基因鉴定出13个SNP位点及第36外显子的第2180位置碱基发生错义突变位点(c.2180G>A,p.Gly727Asp)。孕妇在COL1A2基因的第36外显子亦存在错义突变位点(c.2180G>A,p.Gly727Asp),但其临床特征不一致。其他成员均未检测到Gly727Asp突变。结论有OI孕史的孕妇,采取B超和COL1A1/COL1A2基因诊断技术,可以快速、有效对高危胎儿做出确诊,为预防患病胎儿出生提供技术保障。     

孕前优生健康检查1746例结果分析

目的全面了解育龄夫妇的健康状况,避免幼儿出生带有先天性缺陷。方法抽取我站2013年4月至2013年5月进行孕前优生健康检查的1746例育龄夫妇。采用B超、女性体检、男性体检、空腹验血、体液检查等方式,确定育龄夫妇的健康状况。结果其中检查结果异常的育龄夫妇一共有607例,高风险育龄夫妇一共211例,检查结果正常育龄夫妇一共1139例。结论孕前健康检查可以较为准确的反应育龄夫妇的身体健康状况,能够较为直观的显示育龄夫妇怀孕后幼儿出生带有先天性缺陷的概率,尽量避免高风险人群的孕育情况,将能够有效的提升我国新生儿身体素质,对我国优生优育政策的推广具有重要意义。     

巨大儿的产前预测及对母婴结局的影响

目的观察分析巨大儿产期预测对母婴结果的影响。方法选取我院从2011年3月至2012年3月收治的巨大儿共120例。随机将患者分为预测组和非预测组。其中预测组患者共55例产妇,非预测组共65例产妇。结果预测组产妇的剖宫产率为41.8%,明显要低于未预测组的53.8%,两组对比有显著性差异(P<0.01)。另外,两组产妇在分娩过程中,预测组发生的并发症明显要少于未预测组,其中预测组发生胎儿宫内窘迫、肩难产、产后出血以及产后尿潴留等均明显要少于未预测组产妇,两组对比有显著性差异(P<0.01)。结论产期预测能有效减少剖宫产率,防止分娩过程中母婴发生各种的并发症,减少非产妇以及胎儿的影响。     

Prenatal stress increased Snk Polo-like kinase 2, SCF β-TrCP ubiquitin ligase and ubiquitination of SPAR in the hippocampus of the offspring at adulthood

Exposure to excessive glucocorticoids during fetal development period contributes to later life psychopathology. Prenatal stress decreases dendritic spine density and impair LTP in the hippocampus of rat pups, however, the mechanisms regulating these changes are still unclear.     

Knowledge,attitudes, and practices regarding seasonal influenza vaccination during pregnancy in Costa Rica: A mixed-methods study

BackgroundInfluenza increases stillbirth risk, morbidity and mortality in pregnant women. Vaccination protects pregnant women against severe disease and indirectly protects their infants, but coverage among pregnant women remains low worldwide. We aimed to describe knowledge, attitudes, and practices (KAP) regarding seasonal influenza vaccination among postpartum women and prenatal care physicians in Costa Rica.MethodsWe conducted cross-sectional KAP surveys to women one to three days after childbirth at Costa Rican Social Security Fund maternity hospitals, and obstetricians and general practitioners who provided prenatal care in 2017. Principal components analysis, multiple imputation, and logistic regression were used to examine associations between influenza vaccination and demographics, prenatal care, and sources of information—separately for postpartum women and physicians. We also held two focus groups of six healthcare workers each to further describe vaccination KAP.ResultsWe surveyed 642 postpartum women and 146 physicians in maternity hospitals in five Costa Rican provinces of whom 85.5 % (95 % CI: 82.6 %-88.0 %) and 57.9 % (95 % CI: 49.6 %-65.7 %) were vaccinated for influenza, respectively. Factors associated with influenza vaccination for postpartum women included tetanus vaccination (aOR: 3.62, 95 % CI: 1.89–6.92); received vaccination recommendations from clinicians during prenatal check-ups (aOR: 3.39, 95 % CI: 2.06–5.59); had other children in household vaccinated for influenza (aOR: 2.25, 95 % CI: 1.08–4.68); and secondary/university education (aOR: 0.15–0.31) with no formal education as reference. For postpartum women, reasons for vaccination were perceived benefits for mother and infant, whereas not being offered vaccines was most cited for non-vaccination. Most prenatal care physicians recommended influenza vaccines during prenatal check-ups but believed vaccination causes flu-like symptoms.ConclusionVaccination campaigns and provisions of free vaccines effectively increased knowledge and coverage among women in Costa Rica. To improve access, women should be offered vaccines during prenatal care appointments. Educating healthcare workers about vaccine benefits for themselves and patients is needed to mitigate safety concerns.     

产前综合干预模式对初产妇分娩应对能力及分娩结局的影响研究

目的探讨产前综合干预模式对初产妇分娩应对能力的效果及其可能对分娩结局产生的影响。方法将2012年1月~2014年2月入选的417例初产妇采用随机数字表法分为干预组214例与对照组203例,孕周28周后,给予对照组产妇常规产检与护理,干预组则在对照组基础上根据自我效能感来源的四个途径实施产前综合干预。结果干预后对照组OE-16评分与EE-16评分仅有小幅度增加,而干预组增加显著,干预前、后与对照组比较均有统计学意义(P<0.05);干预后干预组CCB评分显著高于对照组,差异有统计学意义(P<0.05);干预组产时疼痛程度显著轻于对照组,与对照组比较差异具有高度统计学意义(P<0.01);此外,除新生儿1 min Apgar评分组间比较无明显差异外(P>0.05),干预组总产程时间较对照组短(P<0.05),且剖宫产率也较对照组低(P<0.05)。结论产前综合干预对提高初产妇的分娩自我效能感水平与分娩应对能力有益,是一种降低剖宫产率的重要护理举措,值得在产科临床进一步推广应用。     

Pregnancy,Prenatal Care,and Delivery of Mothers with Disabilities in Korea

The aim of this study was to investigate the whole picture regarding pregnancy, prenatal care, obstetrical complications, and delivery among disabled pregnant women in Korea. Using the data of National Health Insurance Corporation, we extracted the data of women who terminated pregnancy including delivery and abortion from January 1, 2010 to December 31, 2010. Pearson''s chi-square test and Student-t test were conducted to examine the difference between disabled women and non-disabled women. Also, to define the factors affecting inadequate prenatal care, logistic regression was performed. The total number of pregnancy were 463,847; disabled women was 2,968 (0.6%) and 460,879 (99.4%) were by non-disabled women. Abortion rates (27.6%), Cesarean section rate (54.5%), and the rate of receiving inadequate prenatal care (17.0%), and the rate of being experienced at least one obstetrical complication (11.3%) among disabled women were higher than those among non-disabled women (P < 0.001). Beneficiaries of Medical Aid (OR, 2.21) (P < 0.001) and severe disabled women (OR, 1.46) (P = 0.002) were more likely to receive inadequate prenatal care. In conclusion, disabled women are more vulnerable in pregnancy, prenatal care and delivery. Therefore, the government and society should pay more attention to disabled pregnant women to ensure they have a safe pregnancy period up until the delivery.

Graphical Abstract

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Executive functioning in preschool-age children prenatally exposed to alcohol,cocaine, and marijuana

BACKGROUND: Reports from clinical and experimental (animal) research converge on the suggestion that prenatal exposure to alcohol, cocaine, or marijuana undermines executive functioning (EF) and its neurological underpinnings. However, large, adequately controlled, prospective studies of alcohol and marijuana effects on EF have reported conflicting findings, and there have been no such studies of cocaine exposure. METHODS: EF was investigated in a cohort (n = 316) of 4-year-old children the majority of whose mothers had used varying combinations of cocaine, alcohol, and marijuana during pregnancy. With use of postpartum maternal report and biological assay, children were assigned to overlapping prenatal cocaine-exposed, alcohol-exposed, and marijuana-exposed groups and to complementary control groups. The postnatal environmental assessment included measures of maternal intellectual and psychosocial functioning, current drug or alcohol use, and home environment. RESULTS: The children in the alcohol-exposed group had worse tapping-inhibition performance than children in the non-alcohol-exposed group, and this effect persisted when potential confounding environmental variables, other drug variables, and concurrent verbal intelligence were controlled for. CONCLUSIONS: Prenatal alcohol is predictive of decreased EF in early childhood that could not be attributed to environmental factors. The results are discussed in terms of the age and overall high-risk status of the children.