Endometrial injury and resulting female infertility pose significant clinical challenges due to the notable shortcomings of traditional treatments. Herein, we proposed a double network composite hydrogel, CSMA-RC-Zn-PNS, which forms a physical barrier on damaged tissue through photo-crosslinking while enabling sustained release of the active ingredient PNS. Based on this, we developed a combined strategy to enhance transdermal delivery efficiency using ultrasound cavitation. In vitro experiments demonstrated that CSMA-RC-Zn-PNS exhibits excellent biosafety, biodegradability, and promotes cell proliferation, migration, and tube formation, along with antioxidant and antibacterial properties. In a rat endometrial injury model, the ultrasound cavitation effect was demonstrated to enhance transdermal delivery efficiency, and the ability of CSMA-RC-Zn-PNS to promote endometrial regeneration, anti-fibrosis and fertility restoration was verified. Overall, this strategy combining CSMA-RC-Zn-PNS hydrogel and ultrasound treatment shows promising applications in endometrial regeneration and female reproductive health.
Introduction Tetrachlorobisphenol A (TCBPA), a BPA alternative, has been identified as a potential toxin, yet its reproductive toxicity remains poorly understood. This study aimed to investigate the effects of gestational TCBPA exposure on fetal development and placental function, focusing on syncytialization and TauT expression. Methods Pregnant ICR mice were divided into three groups: TCBPA-treated (50 mg/kg/day), vehicle-treated (corn oil), and control (water). Treatments were administered until embryonic day 12.5 (E12.5) and 18.5 (E18.5). Embryos and placentas were collected at E12.5 for histological, immunofluorescence, western blotting, and quantitative PCR analyses of placental development and fetal growth. In vitro BeWo cell experiments were conducted to assess TCBPA's effects on syncytialization. Results Gestational TCBPA exposure led to fetal growth restriction (FGR) and impaired placental development, including reduced labyrinth area, disorganized vascular patterns, and disrupted syncytialization. Key syncytialization markers, such as Syncytin1 and β-hCG, were significantly reduced, while E-Cadherin was elevated. Both the localization and expression levels of syncytiotrophoblast polarity markers MCT1 and MCT4 were decreased. Mechanistically, TCBPA downregulated the PPARγ/RXRα/SP-1 signaling pathway and reduced TauT expression. In vitro, TCBPA disrupted syncytialization in BeWo cells. Discussion Gestational TCBPA exposure disrupts placental function, particularly syncytialization, resulting in fetal growth restriction. The downregulation of Syncytin-1, β-hCG, TauT, and the altered localization and expression of MCT1 and MCT4 point to key mechanisms underlying TCBPA-induced placental dysfunction. These findings highlight the reproductive risks of TCBPA and emphasize the need for further investigation and caution in its use during pregnancy.
In women of childbearing age, extensive decidualization, shedding and remodeling of the endometrium during the menstrual cycle are fundamental for successful pregnancy. The role of prostaglandins (PGs) in menstruation has long been proposed in humans, and the rate-limiting enzyme cyclooxygenase was shown to play a key role in endometrial breakdown and shedding in a mouse menstrual-like model in our previous study. However, the specific types of PGs involved and their respective roles remain unclear. Therefore, our objective was to investigate the mechanism through which PGs regulate endometrial disintegration. In this study, the microscopy was observed by HE; the protein levels of prostaglandins E1 (PGE1), prostaglandins E2 (PGE2), prostaglandin F2α (PGF2α) and Prostaglandin I2 (PGI2) were detected by ELISA; the mRNA level of Pfgfr2, Vascular Endothelial Growth Factor(Vegf), Angiostatin and Hypoxia inducible factor-1α (Hif1α) were examined by real-time PCR; PTGFR Receptor (PTGFR), VEGF, Angiostatin and HIF-1α protein levels were investigated by western blotting; the locations of protein were observed by Immunohistochemistry; HIF-1α binding PTGFR promoter was detected by Chromatin Immunoprecipitation (ChIP) and real-time PCR. We found that the concentrations of PGE1, PGE2, and PGF2α all increased significantly during this process. Furthermore, Ptgfr mRNA increased soon after Progesterone (P4) withdrawal, and PTGFR protein levels increased significantly during abundant endometrial breakdown and shedding processes. PTGFR inhibitors AL8810 significantly suppressed endometrial breakdown and shedding, promoted Angiostatin expression, and reduced VEGF-A expressions and vascular permeability. And HIF-1α and PTGFR were mainly located in the luminal/gland epithelium, vascular endothelium, and pre-decidual zone. Interestingly, HIF-1α directly bound to Ptgfr promoter. Moreover, a HIF-1α inhibitor 2-methoxyestradiol (2ME) significantly reduced PTGFR expression and suppressed endometrial breakdown which was in accord with PTGFR inhibitor’s effect. Similar changes occurred in human stromal cells relevant to menstruation in vitro. Our study provides evidence that PGF2α/PTGFR plays a vital role in endometrial breakdown via vascular changes that are regulated by HIF-1α during menstruation.
Previous studies demonstrated that many environmental chemicals can cross the human placental barrier. However, the risk regarding gestational exposure of emerging endocrine-disrupting chemicals (EDCs) is unclear. In this study, the occurrence of 24 EDCs, such as bisphenol A analogs, parabens, triclocarban, and triclosan, was investigated in serum and urine samples from Chinese pregnant women. Some metabolites were determined in matched serum-urine pairs (n = 75) to perform a comprehensive assessment of exposure. The placental transfer efficiency (PTE) of the detected chemicals was determined in matched maternal-cord serum pairs (n = 110). The mean PTEs of the chemicals showed a large variation from 43.1% to 171.0%. The potential effects of physicochemical properties, molecular structures, and biological factors on PTE were investigated using multiple linear regression models and molecular docking. We found that the PTE of methyl paraben, ethyl paraben, and propyl paraben was associated with their increasing alkyl chain lengths. Furthermore, a comprehensive exposure assessment of EDCs showed that 62.7% of pregnant women had a health index > 1, which indicted potential health risks during pregnancy. However, toxicity and the underlying mechanisms of these EDCs remain to be further studied.
Many per- and polyfluoralkyl substances (PFASs) may disrupt maternal thyroid hormone homeostasis in pregnancy. Concerns should be raised regarding the PFASs exposure in pregnant women because thyroid hormones are involved in the early development of the fetus. In this study, we measured the concentrations of 13 PFASs, including five novel short-chain PFASs, in serum from 123 pregnant women in Beijing, China. Linear regression models were used to investigate the association between thyroid-stimulating hormone (TSH) or free thyroxine (FT4) levels and PFASs concentrations under consideration of the impacts of pregnancy-induced physiological factors. We found that perfluorobutanoic acid (PFBA) (β=0.189, 95%CI=-0.039, 0.417, p=0.10) and perfluorodecanoic acid (PFDA) (β=-0.554, 95%CI=-1.16, 0.049, p=0.071) were suggestive of significant association with TSH in thyroid peroxidase antibody (TPOAb) negative women. No association was observed between all PFASs and FT4 levels after controlling for these confounding factors, such as BMI, gestational weight gain and maternal age. These findings suggest that it should pay more attention to the association between thyroid hormone levels and short-chain PFASs concentrations. Future studies could consider a greater sample and the inclusion of other clinical indicators of thyroid function, such as free T3 and total T3.
目的 分析与预测新疆社区卫生服务中心医疗服务效率的发展趋势,找出与西部地区之间存在的差距,为提升新疆社区卫生服务中心医疗服务效率提供依据.方法 基于2011-2019年新疆统计年鉴及国家卫生统计年鉴相关数据,借助灰色预测GM(1,1)模型分析预测2019-2025年新疆社区卫生服务中心医疗服务效率.结果 2010-2018年,新疆社区卫生服务中心诊疗人次数及医师日均担负诊疗人次数均呈逐年增长趋势,截止至2018年,分别为603.0万人次及11.9人次;床位使用率、出院人数、出院患者平均住院日及医师日均担负住院床日数均呈S型变化,截止至2018年,分别为42.9%、4.7万人、8.0日及0.8床日.通过灰色模型预测得,2019-2025年诊疗人次数、医师日均担负诊疗人次数、出院人数均呈上升趋势,预测至2025年,分别增加到1106.04万人次、15.73人次及4.81万人次;病床使用率、平均住院日、医师日均担负住院床日均呈下降趋势,预测至2025年分别下降到39.52%、7.07日及0.77床日.结论 未来几年,新疆社区卫生服务中心的医疗服务效率仍处于西部地区中等偏下水平,政府应根据当地实际情况在提升诊疗服务效率的基础上,加大对住院服务效率的提升.
目的 分析2013—2018年西部地区社区卫生服务机构卫生资源配置情况及配置的公平性,找出其影响因素,为进一步优化配置卫生资源提供参考依据.方法 运用基尼系数、集聚度两项评价指标评价西部地区社区卫生服务机构卫生资源的公平性并分析差异,运用聚类分析找出资源配置不均衡的主要因素.结果 "十三五"期间西部地区社区卫生资源配置公平性总体逐年趋好,但是区域间仍存在较大差异;卫生资源按人口分布的公平性高于按地理面积分布的公平性,而经济发展水平是影响资源地理配置分布不均的主要原因.结论 在西部地区社区卫生资源配置的问题上,需综合考虑地理、人口、经济及人口流动各类条件,统筹全局,兼顾公平与效率;在人口密度较大土地面积较小的地区,加强卫生资源相对于人口分布的可及性程度,在人口密度较小土地面积较大的地区,加强卫生资源相对于土地面积分布的可及性程度,增强区域内不同地区间资源配置公平性.
Objective:To evaluate the effectiveness of internal control of government procurement at public hospitals.Methods:Literature review and Delphi method were used to construct the internal control evaluation index system of government procurement at public hospitals, and the weight of the index system was determined by analytic hierarchy process. The index system was used to evaluate the internal control of government procurement in Hospital Z.Results:The evaluation index system of government procurement internal control of public hospitals covers all aspects of the whole process of government procurement, including 2 level-1 indexes of government procurement internal control unit level and government procurement internal control business level, 11 level-2 indexes and 27 level-3 indexes. The internal control of government procurement of Hospital Z was evaluated with an evaluation score of 81.37 points, an evaluation result relatively effective.Conclusions:The evaluation index system of government procurement internal control of public hospitals constructed in this study could quantitatively evaluate the effectiveness of each sector of government procurement internal control of public hospitals. It could meet the basic evaluation requirements of internal control of government procurement at public hospitals.
双酚A(BPA)是一种典型的内分泌干扰物,与多种疾病的发生相关;其可通过多种转导通路及氧化应激等途径,导致精子及卵泡损伤,干扰胚胎着床,促进子宫肌瘤细胞增殖及诱导肿瘤发生,从而影响生殖健康.深入了解BPA对生殖系统的影响及作用机制,可为限制BPA的应用提供更多的理论依据.
目的 对表皮生长因子联合紫草油在新生儿中严重臀红的护理效果进行分析与探讨.方法 抽取2018年1月-2019年3月我院收治发生严重臀红60例足月新生儿,将其按治疗方法分为治疗组和对照组,各30例,两组均给予常规护理和治疗,治疗组每日增加表皮生长因子护理1次,疗程5天.结果 (1)治疗2天,治疗组与对照组有效分别为15例(50%)和7例(23.3%),两组差异有统计学意义(P<0.05),治疗组高于对照组;(2)治疗3天结果显示,治疗组有效率(17/30,56.7%)高于对照组(8/30,26.7%),两组差异有统计学意义(P<0.05);(3)治疗5天,治疗组痊愈率高于观察组,分别为10例(33.3%)和1例(3.3%),两组治疗效果差异有统计学意义(P<0.05);(4)两组臀红痊愈时间比较,治疗组为(5.65±1.46)天,对照组为(6.82士1.16)天,两组差异有统计学意义(t=-3.419,P<0.01).结论 表皮生长因子联合紫草油在新生儿臀红中效果明显,起效时间快,值得推广.
BACKGROUND:Perfluoroalkyl substances (PFASs) exist extensively and several of these have been verified to be toxic. Prenatal exposure to PFASs has attracted much attention. Metabolome-wide association analyses can be used to explore the toxicity mechanisms of PFASs by identifying associated biomarkers.OBJECTIVES:To evaluate associations between the metabolites in maternal and cord serum and internal exposure to several common PFASs.METHODS:Paired maternal and cord serum samples were collected from 84 pregnant women who gave birth between 2015 and 2016. Seven legacy and two novel PFASs were measured. A nontarget metabolomic method and an iterative metabolite annotation based on metabolic pathways were applied to characterize the metabolic profiles. Linear regression adjusted with the false discovery rate and covariates was used to indicate the associations.RESULTS:A total of 279 features in maternal serum and 338 features in cord serum were identified as metabolites associated with PFAS exposure. Perfluorooctanoic acid (PFOA) and perfluorohexane sulfonic acid (PFHxS) were two PFASs associated with more metabolites, while the two novel chlorinated polyfluorinated ether sulfonic acids (Cl-PFESAs) showed less relevance to the metabolome. With pathway enrichment analysis, we found that three fatty acid metabolisms and retinol metabolism were correlated with PFAS exposure in maternal blood, and that sterol metabolism showed the correlation in both maternal serum and cord serum.CONCLUSIONS:We identified metabolites and pathways in pregnant women and fetuses associated with the exposure to several PFAS, indicating a promising application for metabolome-wide association studies. Additional research is needed to confirm causation.
There is increasing concern regarding human exposure to bisphenol analogues (BPs) due to their widespread use and potentially adverse effects. Nevertheless, information on the occurrence of BPs in pregnant women is limited. In this study, BPs were detected in 181 serum samples from pregnant Chinese women. Ten BPs, including bisphenol S (BPS), bisphenol F (BPF), bisphenol AF (BPAF), bisphenol B (BPB), bisphenol P (BPP), bisphenol Z (BPZ), bisphenol AP (BPAP), tetrabromobisphenol A (TBBPA), tetrabromobisphenol S (TBBPS), and tetrachlorobisphenol A (TCBPA), were positively identified and quantified in serum samples with total BP concentrations (sum of bisphenols: Sigma BPs) of 0-144 ng/mL. Concentrations of the two frequently detected compounds, TBBPS and BPS, were 0.593 and 0.113 ng/mL, respectively. The results were also compared with the geographic distributions of the BPs. To our knowledge, this is the first time that TBBPS and TCBPA have been detected in serum samples of pregnant women. These findings suggest that additional studies are urgently needed to identify the risk of maternal and fetal exposure to these compounds. (C) 2019 Elsevier B.V. All rights reserved.
双酚A是一种内分泌干扰物,广泛应用于工业生产中.人类时常暴露于双酚类化合物中,研究表明孕母体内可以检测到双酚类化合物,意味着胎儿时期即开始接触双酚类化合物,除宫腔内暴露之外,双酚A还通过许多不同途径进入胎儿及新生儿体内.目前,双酚A对胎儿及新生儿造成的不同程度影响逐渐受到人们的关注.本文从新生儿出生结局、内分泌、神经系统及呼吸系统的4个方面探讨双酚A对新生儿短期和长期不良影响,帮助人们更全面深入地认识双酚类化合物对人类健康的危害.
Background Human amniotic fluid (AF) cells are commonly used in prenatal diagnosis. The AF cell-free mRNA (cfRNA) derived from necrotic or apoptotic cells of fetus may provide feasible marker of organ development and fetal malformation. Analysis of gene co-expression network will help to annotate AF cfRNA gene variations in fetal diseases. Methods Datasets of amniotic fluid free RNA were downloaded from the Gene Expression Omnibus database. Co-expressed modules based on normal fetus AF cfRNA transcriptome were established via Weighted Gene Co-expression Network Analysis. The relationship between modules and tissues were set up via tissue-specific gene expression analysis of genes in modules. Differential expressed genes in Down syndrome (DS), Edwards syndrome (ES), and Turner syndrome (TS) were analyzed via linear models implemented in the limma package. Gene Ontology (GO) analysis of modular specific differential expressed genes for these three syndrome fetus was performed separately. Based on relationship of GO terms, GO graph of all enriched GO terms were constructed. The associated enriched GO terms in GO graph were considered as the same subset. Numbers of GO terms of the same subset with diseases and modules were calculated. Results A total of 22 co-expressed modules were constructed. Most of co-expressed module eigengenes showed no correlation with gestation weeks. Probe sets with higher expression values showed significant clustering tendencies. Dominant tissues and modules were different for different modules and tissues respectively through analysis of tissue-specific genes distribution in modules. The total numbers of enriched GO terms in six major modules were related to diseases severity for ES, DS, and TS. Disease-specific modules for ES, DS, and TS were detected in relation to biological processes through GO analysis. Differential expressed genes in disease-specific module were identified for DS, ES, and TS. Conclusions The gene co-expression network for functional classification provides a potential tool for annotating AF cfRNA variations in fetal diseases.
Spontaneous abortion is a common, detrimental outcome of pregnancy, and can be induced by a variety of factors, including pathophysiological conditions and socioeconomic circumstances. Despite numerous studies examining the aetiology of spontaneous abortion, there is limited understanding of the disordered iron transportation between mother and fetus through the placenta. Recently, erythroferrone (ERFE) was recognized as a novel negative regulator of hepcidin that can elevate nutritional iron absorption and macrophagic iron egress for enhanced erythropoiesis. However, its diagnostic significance in different disease conditions associated with iron remains poorly understood. In the current study, we discovered disordered maternal iron homeostasis in women who had spontaneous abortions during early pregnancy, as characterized by increased serum iron and hepcidin levels, and conversely, reduced serum ERFE levels, compared to healthy control individuals and women with normal pregnancy. Comprehensive statistical analyses revealed the correlation between different variables and pregnancy status, signifying the pronounced diagnostic value of an increased ratio of serum hepcidin and ERFE (HE ratio) in recognizing adverse pregnancy status. In contrast to previous non-selective discrete surrogates, such as iron, hepcidin and ferritin, the HE ratio may otherwise stand for a novel and more representative hallmark for early spontaneous abortion.
Spontaneous abortion is a considerable threat to the physiology and mental health of the mother. The etiology of spontaneous abortion is multifactorial with complicated mechanisms, of which overexposure to non-essential metals (especially heavy metals) has been proposed to be associated with adverse birth outcomes. However, significant knowledge gaps remain to be filled in, such as the deleterious profile of non-essential metals and their interplay with essential metals in abnormal pregnancy. Under this setting, we aimed to address these challenges by conducting a cross-sectional study on 56 patients with spontaneous abortion in the 1st trimester, by comparing to 55 healthy pregnant women in 1st the trimester and 41 non-pregnant healthy women. Overexposure to a few non-essential metals, such as arsenic (As), antimony (Sb) and bismuth (Bi), was found in patients with spontaneous abortion, and likewise, some essential elements, such as magnesium (Mg), copper (Cu), vanadium (V), strontium (Sr) and tin (Sn), were also found to be elevated under spontaneous abortion. Further evidence of abnormal pregnancy was induced by a reduced level of internal hormones necessary for normal gestation, such as estradiol (E2) and progesterone (PRGE) in women with spontaneous abortion. Lactate dehydrogenase (LDH) and thyroid-stimulating hormone (TSH) levels were slightly increased in patients with spontaneous abortion. Comprehensive correlation analyses were carried out to identify the crucial factors that result in abortion. Our data stratified the important variables in decreasing order: PRGE, As, Mg, Sb, Sr, Sn, Bi and pregnant times in the progress of spontaneous abortion. Moreover, labyrinthine associations were uncovered between PRGE, nonessential metals and essential elements in causing spontaneous abortion. Therefore, our combined data unveiled the likely synergistic implications of elevated non-essential metals and the disordered metabolism of essential metals in abnormal pregnancy.
Information on placental transfer and adverse outcomes of short-chain per- and polyfluoroalkyl substance (PFASs) is limited, and factors responsible for PFAS placental transfer are still unclear. In the present study, concentrations of 21 PFASs were analyzed in 132 paired maternal and cord serum samples collected from residents in Beijing, China, and the placental transfer efficiency (PTE) of each PFAS was calculated. PTEs of short-chain perfluoroalkyl acids (PFAAs), including PFBA (146%), PFBS (97%), PFPeA (118%), and PFHxA (110%), were first reported, and a complete U-shaped trend of PTEs from C4 to C13 of perfluoroalkyl carboxylic acids (PFCAs) was obtained. Positive association between maternal weight and PTE of perfluorooctanesulfonate (PFOS) ( p < 0.05) and negative association between maternal PFBA concentration and birth length ( p < 0.01) were observed. Using in vitro experiments, we further determined equilibrium dissociation constants ( Kds) of human serum albumin (HSA)-PFAS complexes ( Kd-HP), serum proteins-PFAS complexes ( Kd-SP), and liver-fatty acid binding protein (L-FABP)-PFAS complexes ( Kd-LP) and found that they were all significantly correlated with PTEs of PFASs. The correlation coefficient was 0.92, 0.89, and 0.86, respectively ( p < 0.01 in all three tests), suggesting that Kds of protein (serum)-PFAS complexes can play an important role in trans-placental transfer of PFASs in human and Kd-HP plays a pivotal role.
Fluorene-9-bisphenol (BHPF), a new derivative of bisphenol A (BPA), has been introduced for treatment with estrogen-related tumors, such as endometrial cancer. This study investigated the potential mechanism underlying the action of BHPF against endometrial cancer in vitro. We used the cell counting kit-8 (CCK8) method on Ishikawa cells to screen sub-lethal doses of BHPF and established the optimal concentration at which BHPF influenced the proliferation of Ishikawa cells. Effect of BHPF on cell migration and invasion was investigated by cell scratch assay and transwell assay, respectively. Expression levels of epithelial-mesenchymal transition (EMT)–related proteins were detected by Western blot analysis. BHPF was found to inhibit the proliferation of Ishikawa cells, whose migration and invasion abilities were also reduced. Western blot indicated that BHPF can significantly inhibit the EMT process of Ishikawa cells by blocking transforming growth factor-β (TGF-β) signaling pathway. This is the first report of the effect of BHPF on the biological behavior of endometrial cancer cells and its inhibition of endometrial cancer progression by repressing both endometrial cell proliferation and epithelial-mesenchymal transition, hence suggesting it as a novel anti-cancer drug.
Despite mass production and widespread use of parabens, triclosan (TCS), and triclocarban (TCC) in a range of personal care products, little is known about their concentrations and distribution in pregnant woman serum in China. In this study, 5 parabens (methyl- (Mel)), ethyl- (EtP), butyl- (BuP), heptyl- (HeP) and benzyl-parabens (BzP)) and 4 their metabolites (methyl protocatechuate (OH-MeP), ethyl protocatechuate (OH-EtP), 3,4-dihydroxybenzoic acid (3,4-DHB) and 4-hydroxybenzoic acid (4-HB)), TCS, and TCC were measured, by using solid-phase extraction (SPE) and ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) techniques, in pregnant woman serum samples collected from 13 provinces in China. Total concentrations of parabens (Sigma PBs), their metabolites (Sigma MBs), and TCC and TCS (Sigma AAs) in serum ranged from 0.221-18.6 (geometric mean (GM): 2.47), 47.4-598 (212), and 0.101-5.84 (1.01) ng/mL, respectively. MeP, EtP, 4-HB and TCS were the dominant compounds, and their GM concentrations were 1.86, 0239, 211 and 1.00 ng/mL, respectively. Geographical distribution of target chemicals in serum was determined. Concentrations of MeP (5.49 ng/mL) and EtP (0.895 ng/mL) in sera from the Northeast China were higher than those from other regions (MeP: 0.987-3.54, EtP: 0.07-0254 ng/mL; p < 0.05). The highest 4-HB concentrations were found in sera from the Southwest China (GM: 286 ng/mL), whereas the TCS concentrations in sera from the North China (1.18 ng/mL) were higher than those found for other regions (p < 0.05). The estimated daily intakes (EDIs; range: 49.5-126 mu g/kg body weight (bw)/day) showed that the Chinese women were in a low health risk from exposure to such chemicals. This is the first study to report concentration profiles of parabens, TCS and TCC in pregnant woman serum in China. (C) 2019 Elsevier B.V. All rights reserved.
目的 分析接受无创游离DNA检测的唐氏筛查高危孕妇染色体畸形潜在的漏诊风险.方法 将5921例唐氏筛查高危孕妇羊水穿刺羊水细胞的染色体核型分析结果 ,按照无创游离DNA的检测范围以及染色体畸形的致病性进行分类,预测唐氏筛查高危孕妇接受无创游离DNA检测后染色体畸形的漏诊率以及致病性染色体畸形的漏诊率.结果5921例唐氏筛查高危孕妇染色体畸形率为5.39%,接受无创游离DNA检测3.38%的染色体畸形被漏诊.病理性染色体畸形率为2.79%,其中接受无创游离DNA检测0.78%的病理性染色体畸形被漏诊;可疑病理性染色体畸形率为0.83%,接受无创游离DNA检测时也被漏诊.结论 唐氏筛查高危孕妇接受无创游离DNA检测的染色体畸形潜在漏诊风险较高,产前应在有创羊水穿刺和无创游离DNA检测间做出慎重的选择.