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Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios. 通过染色体微阵列分析产前诊断染色体畸变和多胎妊娠胎儿的妊娠结局。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-05-06 DOI: 10.1080/14767058.2024.2344089
Yanyan Liu, Ting Hu, Yanping Qian, Jiamin Wang, Rui Hu, Like Xiao, Na Liao, Zhushu Liu, He Wang, Shanling Liu, Zhu Zhang

Objectives: To explore the prenatal clinical utility of chromosome microarray analysis (CMA) for polyhydramnios and evaluate the short and long-term prognosis of fetuses with polyhydramnios.

Methods: A total of 600 singleton pregnancies with persistent polyhydramnios from 2014 to 2020 were retrospectively enrolled in this study. All cases received amniocentesis and were subjected to CMA results. All cases were categorized into two groups: isolated polyhydramnios and non-isolated polyhydramnios [with soft marker(s) or with sonographic structural anomalies]. All fetuses were followed up from 6 months to five years after amniocentesis to acquire short and long-term prognosis.

Results: The detection rates of either aneuploidy or pathogenic copy number variants in fetuses with non-isolated polyhydramnios were significantly higher than those with isolated polyhydramnios (5.0 vs. 1.5%, p = 0.0243; 3.6 vs. 0.8%, p = 0.0288). The detection rate of total chromosomal abnormalities in the structural abnormality group was significantly higher than that in the isolated group (10.0 vs. 2.3%, p = 0.0003). In the CMA-negative cases, the incidence of termination of pregnancy, neonatal and childhood death, and non-neurodevelopmental disorders in fetuses combined with structural anomalies was significantly higher than that in fetuses with isolated polyhydramnios (p < 0.05). We did not observe any difference in the prognosis between the isolated group and the combined group of ultrasound soft markers. In addition, the risk of postnatal neurodevelopmental disorders was also consistent among the three groups (1.6 vs. 1.3 vs. 1.8%).

Conclusion: For low-risk pregnancies, invasive prenatal diagnosis of isolated polyhydramnios might be unnecessary. CMA should be considered for fetuses with structural anomalies. In CMA-negative cases, the prognosis of fetuses with isolated polyhydramnios was good, and polyhydramnios itself did not increase the risk of postnatal neurological development disorders. The worse prognosis mainly depends on the combination of polyhydramnios with structural abnormalities.

目的探讨染色体微阵列分析(CMA)对多羊水症的产前临床应用,并评估多羊水症胎儿的短期和长期预后:本研究回顾性地纳入了2014年至2020年期间600例持续性多胎妊娠的单胎妊娠。所有病例均接受了羊膜腔穿刺术,并获得了 CMA 结果。所有病例被分为两组:孤立性多羊水和非孤立性多羊水(有软标志物或声像图结构异常)。所有胎儿均在羊膜腔穿刺术后 6 个月至 5 年间接受随访,以了解短期和长期预后:结果:非分离性多羊膜腔畸形胎儿的非整倍体或致病性拷贝数变异检出率明显高于分离性多羊膜腔畸形胎儿(5.0% vs. 1.5%,p = 0.0243;3.6% vs. 0.8%,p = 0.0288)。结构异常组的染色体总异常检出率明显高于孤立组(10.0% vs. 2.3%,p = 0.0003)。在 CMA 阴性病例中,合并结构异常的胎儿终止妊娠、新生儿和儿童死亡及非神经发育障碍的发生率明显高于孤立多胎妊娠的胎儿(P vs. 1.3 vs. 1.8%):结论:对于低风险妊娠,可能没有必要对孤立性多羊水综合征进行侵入性产前诊断。对于结构异常的胎儿,应考虑进行 CMA 检查。在 CMA 阴性的病例中,孤立性多羊水症胎儿的预后良好,多羊水症本身并不会增加产后神经系统发育障碍的风险。预后较差主要取决于多胎妊娠合并结构异常。
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引用次数: 0
Oral dydrogesterone for prevention of miscarriage in threatened miscarriage: a randomized, double-blind, placebo-controlled trial. 口服地屈孕酮预防妊娠流产:随机、双盲、安慰剂对照试验。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-04-03 DOI: 10.1080/14767058.2024.2333929
Arissara Kuptarak, Vorapong Phupong

Objective: To determine the effectiveness of oral dydrogesterone in preventing miscarriage in threatened miscarriage.

Methods: A randomized, controlled trial study was conducted among pregnant Thai women at the gestational age of six to less than 20 weeks who visited King Chulalongkorn Memorial Hospital, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand with threatened miscarriage from August 2021 to August 2022. These pregnant women were randomized to receive oral dydrogesterone 20 mg per day or placebo twice a day until one week after vaginal bleeding stopped or otherwise for a maximum of six weeks.

Results: A total of 100 pregnancies were recruited. Fifty of them were assigned to receive oral dydrogesterone and 50 were assigned to receive placebo. The rate of continuing pregnancy beyond 20 weeks of gestational age was 90.0% (45 out of 50 women) in the dydrogesterone group and 86.0% (43 out of 50 women) in the placebo group (p = 0.538). The incidence of adverse events did not differ significantly between the groups.

Conclusion: Oral dydrogesterone 20 mg/day could not prevent miscarriages in women with threatened miscarriage.

目的确定口服地屈孕酮对预防妊娠流产的有效性:在 2021 年 8 月至 2022 年 8 月期间,在泰国曼谷朱拉隆功大学医学院妇产科系朱拉隆功国王纪念医院就诊的孕龄在 6 周至 20 周以内的泰国孕妇中开展了一项随机对照试验研究。这些孕妇被随机分配到每天口服地屈孕酮 20 毫克或安慰剂,每天两次,直到阴道出血停止一周后,否则最多持续六周:共招募了 100 名孕妇。结果:共招募了 100 名孕妇,其中 50 名被分配接受口服地屈孕酮,50 名被分配接受安慰剂。孕龄 20 周后继续妊娠的比率,地屈孕酮组为 90.0%(50 名妇女中有 45 名),安慰剂组为 86.0%(50 名妇女中有 43 名)(p = 0.538)。两组的不良反应发生率无明显差异:结论:口服地屈孕酮 20 毫克/天不能预防妊娠流产妇女的流产。
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引用次数: 0
Understanding perspectives on neural tube defect management: insights from Jordanian parents. 了解有关神经管缺陷管理的观点:约旦父母的见解。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-04-07 DOI: 10.1080/14767058.2024.2334846
Oqba Al-Kuran, Dunia Z Jaber, Ahmad Ahmad, Sadan Abdulfattah, Sara Mansour, Reem Abushqeer, Noor Al Muhaisen, Lena AlKuran, Mais AlKhalili, Lama Al-Mehaisen

Introduction: Neural tube defects (NTDs) represent a spectrum of heterogeneous birth anomalies characterized by the incomplete closure of the neural tube. In Jordan, NTDs are estimated to occur in approximately one out of every 1000 live births. Timely identification of NTDs during the 18-22 weeks of gestation period offers parents various management options, including intrauterine NTD repair and termination of pregnancy (TOP). This study aims to assess and compare parental knowledge and perceptions of these management modalities between parents of affected children and those with healthy offspring.

Materials and methods: This retrospective case-control study was conducted at Jordan University Hospital (JUH) using telephone-administered questionnaires. Categorical variables were summarized using counts and percentages, while continuous variables were analyzed using mean and standard deviation. The association between exposure variables and outcomes was explored using binary logistic regression. Data analysis was performed using SPSS for Windows version 26 (SPSS Inc., Chicago, IL).

Results: The study sample comprised 143 participants, with 49.7% being parents of children with NTDs. The majority of NTD cases were associated with unplanned pregnancies, lack of folic acid supplementation, and postnatal diagnosis. Concerning parental knowledge of TOP in Jordan, 86% believed it to be legally permissible in certain situations. However, there was no statistically significant difference between cases and controls regarding attitudes toward TOP. While the majority of parents with NTD-affected children (88.7%) expressed a willingness to consider intrauterine surgery, this percentage decreased significantly (to 77.6%) after receiving detailed information about the procedure's risks and benefits (p = .013).

Conclusions: This study represents the first case-control investigational study in Jordan focusing on parental perspectives regarding TOP versus intrauterine repair of myelomeningocele following a diagnosis of an NTD-affected fetus. Based on our findings, we urge the implementation of a national and international surveillance program for NTDs, assessing the disease burden, facilitating resource allocation toward prevention strategies, and promoting early diagnosis initiatives either by using newly suggested diagnostic biomarkers or early Antenatal ultrasonography.

导言:神经管畸形(NTDs)是以神经管未完全闭合为特征的一系列先天畸形。据估计,在约旦,每 1000 名活产婴儿中就有一名患有 NTD。在妊娠18-22周期间及时发现NTD,可为父母提供多种治疗方案,包括宫内NTD修复和终止妊娠(TOP)。本研究旨在评估和比较患儿父母和健康后代父母对这些处理方式的了解和看法:这项回顾性病例对照研究在约旦大学医院(JUH)进行,采用电话问卷调查的方式。分类变量采用计数和百分比进行总结,连续变量采用平均值和标准差进行分析。采用二元逻辑回归法探讨暴露变量与结果之间的关联。数据分析使用 SPSS for Windows 26 版本(SPSS Inc:研究样本包括 143 名参与者,其中 49.7% 为 NTD 患儿的父母。大多数 NTD 病例与计划外怀孕、缺乏叶酸补充和产后诊断有关。关于约旦父母对TOP的了解,86%的父母认为在某些情况下TOP是法律允许的。然而,在对TOP的态度上,病例和对照组之间没有统计学意义上的显著差异。虽然大多数受 NTD 影响的患儿父母(88.7%)表示愿意考虑宫内手术,但在详细了解了手术的风险和益处后,这一比例明显下降(降至 77.6%)(p = .013):本研究是约旦首例病例对照调查研究,重点探讨了父母在确诊胎儿患有 NTD 后,对子宫肌膜膨出宫腔手术与宫内修复手术的看法。根据我们的研究结果,我们敦促实施一项国家和国际性的非传染性疾病监测计划,评估疾病负担,促进资源分配以制定预防策略,并通过使用新提出的诊断生物标志物或早期产前超声波检查来促进早期诊断。
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引用次数: 0
A randomized controlled trial reducing cesarean delivery rates in China by introducing trial of labor after cesarean and electrohysterography. 一项随机对照试验,通过引入剖宫产术后试产和宫体电图,降低中国的剖宫产率。
IF 1.7 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-12-01 Epub Date: 2024-07-14 DOI: 10.1080/14767058.2024.2376661
Kirsten Martine Johanna Thijssen, Maria Wilhelmina Elisabeth Frenken, Marieke Beatrijs Van der Hout-van der Jagt, Wang Li, Zhongfu Mo, Michelle Elisabeth Maria Hermine Westerhuis, Guid Oei Swan

Objective: A cesarean delivery (CD) can affect health of both mother and child and future pregnancies. Since the abandonment of the one-child policy in China, obstetricians tend to perform a repeat CD rather than a trial of labor after cesarean (TOLAC). This study aims to reduce CD rates by increasing vaginal births after cesarean (VBAC) rates and introducing electrohysterography (EHG) for accurate monitoring.

Methods: In total, 82 women received counseling regarding TOLAC at the Shijiazhuang Sixth Hospital in China. Women opting for TOLAC were randomized for either external tocodynamometry (TOCO, i.e. standard care) or EHG. The primary outcome was the VBAC rate. Secondary outcomes were indications for CD, percentage of assisted vaginal deliveries, labor duration, maternal blood loss, complications and neonatal outcomes.

Results: After accounting for preterm delivery and dropouts, all counseled women opted for a TOLAC (100%). After randomization, 42 women were included in the TOCO-group and 37 in the EHG-group. Women did not receive pain medication and labor was not augmented with oxytocin. The VBAC rate was 71.4% in the TOCO-group, versus 78.4% in the EHG-group (p = .48). Birth was assisted with forceps in 11.9% of TOCO-group versus 2.7% of EHG-group (p = .21). One secondary CD (i.e. a shift from intended vaginal delivery to surgical delivery within the same labor) was performed because of a suspicion of uterine rupture (TOCO-group). Other indications for CD were: fetal distress, labor dystocia, fetal position, cephalopelvic disproportion. There were no significant differences in secondary study outcomes. No complications were reported.

Conclusion: This study showed an average VBAC rate of 75%, without any complications, in a hospital with no previous experience with TOLAC. The VBAC rate with EHG-monitoring was higher than TOCO, although this difference was not significant. To demonstrate a significant difference, larger clinical studies are necessary.

Trial registration: The Daily Board of the Medical Ethics Committee of The Maternal and Child Hospital of Shijiazhuang approved the study protocol (number 20171018, Dutch Trial Register NL8199).

目的剖宫产(CD)会影响母婴健康和今后的妊娠。自中国放弃一胎化政策以来,产科医生倾向于再次进行剖宫产,而不是剖宫产后试产(TOLAC)。本研究旨在通过提高剖宫产术后阴道分娩(VBAC)率,并引入宫腔电切术(EHG)进行准确监测,从而降低剖宫产率:方法:共有82名产妇在石家庄市第六医院接受了有关TOLAC的咨询。选择 TOLAC 的产妇被随机分配到体外血流动力学测量(TOCO,即标准护理)或 EHG。主要结果是VBAC率。次要结果为CD适应症、阴道助产比例、产程、产妇失血量、并发症和新生儿结局:在考虑了早产和辍学因素后,所有接受咨询的产妇都选择了 TOLAC(100%)。随机分组后,42 名产妇被纳入 TOCO 组,37 名被纳入 EHG 组。产妇没有接受镇痛药物,也没有使用催产素助产。TOCO组的VBAC率为71.4%,而EHG组为78.4%(p = .48)。11.9% 的 TOCO 组产妇使用产钳助产,而 2.7% 的 EHG 组产妇使用产钳助产(p = .21)。由于怀疑子宫破裂(TOCO 组),进行了一次二次 CD(即在同一产程中从阴道分娩转为手术分娩)。其他分娩指征包括:胎儿窘迫、难产、胎位不正、头盆不称。二次研究结果无明显差异。无并发症报告:这项研究表明,在一家从未使用过 TOLAC 的医院中,VBAC 的平均成功率为 75%,且无任何并发症。采用 EHG 监测的 VBAC 率高于 TOCO,但差异并不显著。要证明两者之间存在明显差异,还需要进行更大规模的临床研究:石家庄市妇幼保健院医学伦理委员会日常委员会批准了该研究方案(编号20171018,荷兰试验注册号NL8199)。
{"title":"A randomized controlled trial reducing cesarean delivery rates in China by introducing trial of labor after cesarean and electrohysterography.","authors":"Kirsten Martine Johanna Thijssen, Maria Wilhelmina Elisabeth Frenken, Marieke Beatrijs Van der Hout-van der Jagt, Wang Li, Zhongfu Mo, Michelle Elisabeth Maria Hermine Westerhuis, Guid Oei Swan","doi":"10.1080/14767058.2024.2376661","DOIUrl":"10.1080/14767058.2024.2376661","url":null,"abstract":"<p><strong>Objective: </strong>A cesarean delivery (CD) can affect health of both mother and child and future pregnancies. Since the abandonment of the one-child policy in China, obstetricians tend to perform a repeat CD rather than a trial of labor after cesarean (TOLAC). This study aims to reduce CD rates by increasing vaginal births after cesarean (VBAC) rates and introducing electrohysterography (EHG) for accurate monitoring.</p><p><strong>Methods: </strong>In total, 82 women received counseling regarding TOLAC at the Shijiazhuang Sixth Hospital in China. Women opting for TOLAC were randomized for either external tocodynamometry (TOCO, i.e. standard care) or EHG. The primary outcome was the VBAC rate. Secondary outcomes were indications for CD, percentage of assisted vaginal deliveries, labor duration, maternal blood loss, complications and neonatal outcomes.</p><p><strong>Results: </strong>After accounting for preterm delivery and dropouts, all counseled women opted for a TOLAC (100%). After randomization, 42 women were included in the TOCO-group and 37 in the EHG-group. Women did not receive pain medication and labor was not augmented with oxytocin. The VBAC rate was 71.4% in the TOCO-group, versus 78.4% in the EHG-group (<i>p</i> = .48). Birth was assisted with forceps in 11.9% of TOCO-group versus 2.7% of EHG-group (<i>p</i> = .21). One secondary CD (i.e. a shift from intended vaginal delivery to surgical delivery within the same labor) was performed because of a suspicion of uterine rupture (TOCO-group). Other indications for CD were: fetal distress, labor dystocia, fetal position, cephalopelvic disproportion. There were no significant differences in secondary study outcomes. No complications were reported.</p><p><strong>Conclusion: </strong>This study showed an average VBAC rate of 75%, without any complications, in a hospital with no previous experience with TOLAC. The VBAC rate with EHG-monitoring was higher than TOCO, although this difference was not significant. To demonstrate a significant difference, larger clinical studies are necessary.</p><p><strong>Trial registration: </strong>The Daily Board of the Medical Ethics Committee of The Maternal and Child Hospital of Shijiazhuang approved the study protocol (number 20171018, Dutch Trial Register NL8199).</p>","PeriodicalId":50146,"journal":{"name":"Journal of Maternal-Fetal & Neonatal Medicine","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation analysis of maternal serum folate and 25(OH)D levels with the incidence of fetal growth restriction in patients with preeclampsia. 母体血清叶酸和 25(OH)D 水平与子痫前期患者胎儿生长受限发生率的相关性分析。
IF 1.7 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-26 DOI: 10.1080/14767058.2024.2400688
Li-Ping Ge, Jian Pan, Mingzhen Liang

Background: The purpose of this study was to investigate the effect of folic acid (FA) and vitamin D supplementation on increasing maternal serum folate and 25-hydroxyvitamin D [25(OH)D] concentrations during pregnancy and further reveal its role in reducing the risk of fetal growth restriction (FGR) in patients with preeclampsia (PE).

Methods: A total of 300 preeclamptic patients (treatment group 204 and control group 96) who had undergone routine obstetric examinations were retrospectively analyzed in this study. Data that include maternal serum levels of folate and 25(OH)D detected during early, middle, and late gestational periods from the medical records were analyzed. Multifactorial logistic regression analysis was performed to investigate the correlation of serum folate and 25(OH)D concentrations with the incidence of FGR.

Results: Serum folate and 25(OH)D concentrations were similar between the treatment group and control group in the early gestation. During the middle and late gestation, the serum folate and 25(OH)D levels were both continuously increased in the treatment group, but persistently decreased in the control group, leading to significant differences between the two groups (p < .001). In addition, the incidence of FGR was significantly lower in the treatment group than in the control group (p < .001). Logistic regression analysis showed significant correlations of increased serum folate and 25(OH)D levels with lower risk of FGR.

Conclusions: FA and vitamin D supplementations facilitated to lower the risk of FGR in preeclamptic patients. These results would be the solid foundation for the further investigation of approaches to improve adverse outcomes of pregnancy, and have potential guiding implications for clinical practice.

背景:本研究旨在探讨补充叶酸(FA)和维生素D对提高孕期母体血清叶酸和25-羟基维生素D [25(OH)D]浓度的影响,并进一步揭示其在降低子痫前期(PE)患者胎儿生长受限(FGR)风险方面的作用:本研究对接受常规产科检查的 300 例子痫前期患者(治疗组 204 例,对照组 96 例)进行了回顾性分析。分析数据包括病历中孕早期、中期和晚期检测到的母体血清叶酸和 25(OH)D 水平。对血清叶酸和25(OH)D浓度与FGR发生率的相关性进行了多因素逻辑回归分析:结果:在妊娠早期,治疗组和对照组的血清叶酸和 25(OH)D 浓度相似。在妊娠中期和晚期,治疗组血清叶酸和 25(OH)D 水平均持续上升,而对照组则持续下降,两组间存在显著差异(p p 结论:补充叶酸和维生素 D 有助于降低妊娠期畸形的发生率:补充叶酸和维生素 D 有助于降低先兆子痫患者发生 FGR 的风险。这些结果将为进一步研究改善妊娠不良结局的方法奠定坚实的基础,并对临床实践具有潜在的指导意义。
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引用次数: 0
Timing of four or more scheduled cesarean sections. 四次或更多次计划剖腹产的时间。
IF 1.7 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-12-01 Epub Date: 2024-09-24 DOI: 10.1080/14767058.2024.2406356
Alev Esercan, İsmail Demir, Mehmet Kılıç

Objective: With the increasing number of cesarean sections worldwide, the need to determine the gestational age for scheduled cesarean sections has increased. The literature needs clear information, especially about cesarean sections four or more times. Our study aims to determine the ideal gestational week for mothers and babies in patients who are not in labor and who will have four or more cesarean sections.

Methods: In our retrospective study, the records of 2318 pregnant women were accessed, and those with singleton pregnancies, without medication use during pregnancy, and without any complicated pregnancies, such as newly defined preeclampsia, diabetes, and thyroid disease, and those over 18 years of age were included. All of the cesarean sections were under scheduled conditions (no beginning of labor and no pain/contraction). The exclusion criteria were patients with vaginal dilatation and effacement, a history of uterine rupture, and a diagnosis of placental adhesion spectrum disorder. Maternal and neonatal outcomes were evaluated.

Results: Although there was no significant difference in neonatal outcomes according to gestational week, regardless of the number of cesarean sections, transient tachypnea of the newborn increased significantly in scheduled cesareans performed at the 37th week compared with other weeks (p < 0.01). The results can be expected at 39 weeks and above.

Conclusion: As a result, patients should not undergo cesarean section before 39 weeks unless they are in labor, and it seems safe to wait until 39 weeks.

目的:随着全球剖宫产手术数量的不断增加,确定计划剖宫产手术胎龄的需求也随之增加。文献中需要明确的信息,尤其是关于四次或四次以上剖宫产的信息。我们的研究旨在确定未临产但将进行四次或四次以上剖宫产手术的患者的理想孕周:在我们的回顾性研究中,我们查阅了 2318 名孕妇的记录,其中包括单胎妊娠、孕期未使用药物、无任何复杂妊娠(如新定义的子痫前期、糖尿病和甲状腺疾病)以及年龄超过 18 岁的孕妇。所有的剖宫产手术都是在计划条件下进行的(无分娩开始和无疼痛/宫缩)。排除标准为阴道扩张和宫口开大、有子宫破裂史和诊断为胎盘粘连谱系障碍的患者。对产妇和新生儿的结局进行了评估:结果:虽然新生儿的预后在孕周上没有明显差异,但无论剖宫产次数如何,第 37 周进行的计划剖宫产与其他孕周相比,新生儿一过性呼吸急促明显增加(p 结论:剖宫产对产妇和新生儿的预后都有影响:因此,除非是临产,否则患者不应在 39 周前进行剖宫产,而等到 39 周似乎是安全的。
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引用次数: 0
The use of high-resolution SNP arrays to detect congenital cardiac defects. 使用高分辨率 SNP 阵列检测先天性心脏缺陷。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-02-04 DOI: 10.1080/14767058.2024.2301831
Huang Linhuan, Cai Danlei, He Zhiming, Kong Shu, Chen Jiayi, Peng Jiayi, Su Chuqi, Yang Yinghong, Wang Ding, Xie Yingjun, Luo Yanmin

Objective: Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear.

Methods: High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12-37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound.

Results: Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs.

Conclusions: In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.

目的:高分辨率单核苷酸多态性微阵列(SNP 阵列)检测到的拷贝数变异(CNVs)与先天性心脏缺陷(CHDs)有关。方法:使用高分辨率单核苷酸多态性微阵列检测CNV,并对60个和249个妊娠12-37周的胎儿进行传统的染色体分析,这些胎儿患有孤立性或复杂性CHD,并通过产前超声检查确诊:结果:60 个胎儿中有 20 个(33.5%)存在异常,其中 SNP 阵列检测到 23 个 CNV(12 个致病、5 个可能致病和 6 个意义未定),这些胎儿中有 3 个存在两个不同的 CNV。此外,在 39 名核型正常的孤立性先天性心脏病患者中,28.2%(11/39)存在异常 CNV;在复杂冠状动脉疾病患者中,19.0%(4/21)核型异常,42.9%(9/21)存在异常 CNV。在复杂冠状动脉疾病患者中,19.0%(4/21)有异常核型,42.9%(9/21)有异常 CNV:总之,全基因组高分辨率 SNP 阵列可提高诊断率,发现更多致病 CNV。本研究发现的在线人类孟德尔遗传(OMIM)基因的亚显微缺失和重复具有单倍性(缺失)或三倍性(重复)特征,这进一步阐明了CHD的病因和遗传。
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引用次数: 0
Relationship between serum NLRP3 along with its effector molecules and pregnancy outcomes in women with hyperglycemia. 高血糖妇女血清 NLRP3 及其效应分子与妊娠结局之间的关系。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-02-13 DOI: 10.1080/14767058.2024.2312447
Ning Han, Zili Yuan, Hongyang Zhao, Xinyuan Chang, Yingying Chen, Miao Zhang, Yizhan Wang

Objective: The study aims to investigate the levels of serum NLRP3 along with its effector molecules (Caspase-1, IL-1β, and IL-18) in the mid-pregnancy in pregnant women with hyperglycemia, and explore the relationship between NLRP3, along with its effector molecules (Caspase-1, IL-1β, and IL-18) and insulin resistance, as well as pregnancy outcomes.

Methods: The levels of serum NLRP3 along with its effector molecules (Caspase-1, IL-1β, and IL-18) in three groups of pregnant women with gestational diabetes mellitus (GDM), pregestational diabetes mellitus (PGDM) and normal glucose tolerance (NGT) were measured in mid-pregnancy, and their relationship with insulin resistance and pregnancy outcomes was analyzed. The ROC curve was also used to evaluate the predictive value of serum NLRP3 inflammasome and its effector molecules for pregnancy outcomes.

Results: There were no statistical differences in the general clinical data of the three groups, and the concentrations of serum NLRP3 along with its effector molecules were higher in the GDM and PGDM groups than in the NGT group, and NLRP3 along with its effector molecules were positively correlated with fasting blood glucose, fasting insulin, and insulin resistance index in both groups (r > 0, p < .05). The incidence of preterm delivery, hypertensive disorders of pregnancy, premature rupture of membranes, neonatal hypoglycemia and macrosomia was significantly higher in both groups than in the NGT group (p < .05). The value of the combined serum NLRP3 and its effector molecules in mid-pregnancy to predict adverse pregnancy outcomes was highest, and the AUCs for the combined prediction of late hypertensive disorders of pregnancy, premature rupture of membranes, preterm delivery, neonatal hypoglycemia and macrosomia were 0.84 (95% CI 0.79-0.88, p < .001), 0.81 (95% CI 0.75-0.85, p < .001), 0.76 (95% CI 0.70-0.81, p < .001), 0.76 (95% CI 0.70-0.81, p < .001) and 0.72 (95% CI 0.63-0.81, p < .001), respectively.

Conclusions: Increased serum NLRP3 along with its effector molecules in pregnant women with hyperglycemia are associated with the levels of insulin resistance and the subsequent development of adverse pregnancy outcomes.

研究目的本研究旨在探讨妊娠中期高血糖孕妇血清NLRP3及其效应分子(Caspase-1、IL-1β和IL-18)的水平,并探讨NLRP3及其效应分子(Caspase-1、IL-1β和IL-18)与胰岛素抵抗及妊娠结局的关系:方法:测定妊娠中期妊娠糖尿病(GDM)、妊娠前期糖尿病(PGDM)和正常糖耐量(NGT)三组孕妇血清 NLRP3 及其效应分子(Caspase-1、IL-1β 和 IL-18)的水平,并分析其与胰岛素抵抗和妊娠结局的关系。此外,还利用 ROC 曲线评估了血清 NLRP3 炎性体及其效应分子对妊娠结局的预测价值:三组患者的一般临床数据无统计学差异,GDM 组和 PGDM 组血清 NLRP3 及其效应分子的浓度高于 NGT 组,且两组患者的 NLRP3 及其效应分子与空腹血糖、空腹胰岛素和胰岛素抵抗指数呈正相关(r > 0,p p p p p p p p p 结论:高血糖孕妇血清 NLRP3 及其效应分子的增加与胰岛素抵抗水平及随后不良妊娠结局的发生有关。
{"title":"Relationship between serum NLRP3 along with its effector molecules and pregnancy outcomes in women with hyperglycemia.","authors":"Ning Han, Zili Yuan, Hongyang Zhao, Xinyuan Chang, Yingying Chen, Miao Zhang, Yizhan Wang","doi":"10.1080/14767058.2024.2312447","DOIUrl":"10.1080/14767058.2024.2312447","url":null,"abstract":"<p><strong>Objective: </strong>The study aims to investigate the levels of serum NLRP3 along with its effector molecules (Caspase-1, IL-1β, and IL-18) in the mid-pregnancy in pregnant women with hyperglycemia, and explore the relationship between NLRP3, along with its effector molecules (Caspase-1, IL-1β, and IL-18) and insulin resistance, as well as pregnancy outcomes.</p><p><strong>Methods: </strong>The levels of serum NLRP3 along with its effector molecules (Caspase-1, IL-1β, and IL-18) in three groups of pregnant women with gestational diabetes mellitus (GDM), pregestational diabetes mellitus (PGDM) and normal glucose tolerance (NGT) were measured in mid-pregnancy, and their relationship with insulin resistance and pregnancy outcomes was analyzed. The ROC curve was also used to evaluate the predictive value of serum NLRP3 inflammasome and its effector molecules for pregnancy outcomes.</p><p><strong>Results: </strong>There were no statistical differences in the general clinical data of the three groups, and the concentrations of serum NLRP3 along with its effector molecules were higher in the GDM and PGDM groups than in the NGT group, and NLRP3 along with its effector molecules were positively correlated with fasting blood glucose, fasting insulin, and insulin resistance index in both groups (<i>r</i> > 0, <i>p</i> < .05). The incidence of preterm delivery, hypertensive disorders of pregnancy, premature rupture of membranes, neonatal hypoglycemia and macrosomia was significantly higher in both groups than in the NGT group (<i>p</i> < .05). The value of the combined serum NLRP3 and its effector molecules in mid-pregnancy to predict adverse pregnancy outcomes was highest, and the AUCs for the combined prediction of late hypertensive disorders of pregnancy, premature rupture of membranes, preterm delivery, neonatal hypoglycemia and macrosomia were 0.84 (95% CI 0.79-0.88, <i>p</i> < .001), 0.81 (95% CI 0.75-0.85, <i>p</i> < .001), 0.76 (95% CI 0.70-0.81, <i>p</i> < .001), 0.76 (95% CI 0.70-0.81, <i>p</i> < .001) and 0.72 (95% CI 0.63-0.81, <i>p</i> < .001), respectively.</p><p><strong>Conclusions: </strong>Increased serum NLRP3 along with its effector molecules in pregnant women with hyperglycemia are associated with the levels of insulin resistance and the subsequent development of adverse pregnancy outcomes.</p>","PeriodicalId":50146,"journal":{"name":"Journal of Maternal-Fetal & Neonatal Medicine","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intratracheal instillation of budesonide suspension versus normal saline on oxidative stress in neonates with meconium aspiration syndrome. 气管内灌注布地奈德混悬液和生理盐水对胎粪吸入综合征新生儿氧化应激的影响
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-05-12 DOI: 10.1080/14767058.2024.2337708
Aijuan Qiu, Jing Wang, Lili Yang, Xiuli Lu, Wenjie Zhang, Zhaojun Pan

Background: Presently, the efficacy of neonatal resuscitation techniques via interventions such as oral, nasal, and endotracheal suction for preventing meconium aspiration syndrome (MAS) after delivery has not been satisfactory.

Objective: This study aimed to investigate the role of intratracheal instillation of budesonide on oxidative stress in MAS.

Methods: Sixty-two neonates with MAS admitted to Huai'an Maternity and Child Healthcare Hospital from January 2018 to June 2020 were divided into a study group (intratracheal instillation of 2 ml budesonide suspension; n = 31) and a control group (intratracheal instillation of 2 ml normal saline; n = 31). Collect data from two groups of patients and evaluate clinical outcomes, including oxygenation index (OI), as well as serum total oxidant status (TOS), total antioxidant capacity (TAC), oxidative stress index (OSI) and 8-Isoprostane before treatment and 72h after admission.

Results: We found no statistical differences in mortality, complication rate, total oxygen inhalation time, OI before treatment and 72h after admission between the two groups of neonates with MAS, while the duration of invasive respiratory support in the study group was significantly shorter than in the control group. Also, serum TAC, TOS, OSI and 8-isoprostane levels were not statistically different before treatment between the two groups. After 72h of admission, OSI and 8-Isoprostane in neonates with MAS in the study group were much lower than those in the control group. TOS, OSI, 8-Isoprostane in the control group and 8-Isoprostane in the study group were significantly higher than those before treatment. As for TAC and TOS, no significant differences were observed between the two groups.

Conclusion: Intratracheal instillation of budesonide was shown to alleviate oxidative stress and shorten invasive ventilation time in neonates with MAS.

背景:目前,新生儿复苏技术通过口腔、鼻腔和气管内吸引等干预措施预防产后胎粪吸入综合征(MAS)的效果并不理想:本研究旨在探讨气管内灌注布地奈德对胎粪吸入综合征中氧化应激的作用:将2018年1月至2020年6月淮安市妇幼保健院收治的62例MAS新生儿分为研究组(气管内灌注2 ml布地奈德混悬液;n=31)和对照组(气管内灌注2 ml生理盐水;n=31)。收集两组患者的数据并评估临床结果,包括氧合指数(OI)以及治疗前和入院后 72 小时的血清总氧化状态(TOS)、总抗氧化能力(TAC)、氧化应激指数(OSI)和 8-异前列腺素:我们发现,两组患有 MAS 的新生儿在治疗前和入院 72 小时后的死亡率、并发症发生率、总吸入氧气时间、氧化应激指数等方面均无统计学差异,而研究组的有创呼吸支持时间明显短于对照组。此外,两组新生儿在治疗前的血清 TAC、TOS、OSI 和 8-isoprostane 水平没有统计学差异。入院 72 小时后,研究组 MAS 新生儿的 OSI 和 8-Isoprostane 远低于对照组。对照组的 TOS、OSI、8-异前列腺烷和研究组的 8-异前列腺烷明显高于治疗前。结论:结论:气管内灌注布地奈德可减轻氧化应激反应,缩短MAS新生儿的有创通气时间。
{"title":"Intratracheal instillation of budesonide suspension versus normal saline on oxidative stress in neonates with meconium aspiration syndrome.","authors":"Aijuan Qiu, Jing Wang, Lili Yang, Xiuli Lu, Wenjie Zhang, Zhaojun Pan","doi":"10.1080/14767058.2024.2337708","DOIUrl":"https://doi.org/10.1080/14767058.2024.2337708","url":null,"abstract":"<p><strong>Background: </strong>Presently, the efficacy of neonatal resuscitation techniques <i>via</i> interventions such as oral, nasal, and endotracheal suction for preventing meconium aspiration syndrome (MAS) after delivery has not been satisfactory.</p><p><strong>Objective: </strong>This study aimed to investigate the role of intratracheal instillation of budesonide on oxidative stress in MAS.</p><p><strong>Methods: </strong>Sixty-two neonates with MAS admitted to Huai'an Maternity and Child Healthcare Hospital from January 2018 to June 2020 were divided into a study group (intratracheal instillation of 2 ml budesonide suspension; <i>n</i> = 31) and a control group (intratracheal instillation of 2 ml normal saline; <i>n</i> = 31). Collect data from two groups of patients and evaluate clinical outcomes, including oxygenation index (OI), as well as serum total oxidant status (TOS), total antioxidant capacity (TAC), oxidative stress index (OSI) and 8-Isoprostane before treatment and 72h after admission.</p><p><strong>Results: </strong>We found no statistical differences in mortality, complication rate, total oxygen inhalation time, OI before treatment and 72h after admission between the two groups of neonates with MAS, while the duration of invasive respiratory support in the study group was significantly shorter than in the control group. Also, serum TAC, TOS, OSI and 8-isoprostane levels were not statistically different before treatment between the two groups. After 72h of admission, OSI and 8-Isoprostane in neonates with MAS in the study group were much lower than those in the control group. TOS, OSI, 8-Isoprostane in the control group and 8-Isoprostane in the study group were significantly higher than those before treatment. As for TAC and TOS, no significant differences were observed between the two groups.</p><p><strong>Conclusion: </strong>Intratracheal instillation of budesonide was shown to alleviate oxidative stress and shorten invasive ventilation time in neonates with MAS.</p>","PeriodicalId":50146,"journal":{"name":"Journal of Maternal-Fetal & Neonatal Medicine","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Antenatal screening for thyroid dysfunction: pre-term birth, low birth-weight, and growth restriction. 产前筛查甲状腺功能障碍:早产、出生体重不足和生长受限。
IF 1.8 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2024-01-08 DOI: 10.1080/14767058.2023.2300416
Ishraq Dhaifalah, Jana Havalova, Dagmar Langova, Howard Cuckle

Objective: To assess pre-term birth, low birth-weight and growth restriction according to maternal thyroid screening results and subsequent treatment.

Methods: This is a nonintervention nested case-control study derived from 10,052 asymptomatic women previously screened during the first trimester marker with anti-thyroid peroxidase antibodies, serum thyroid stimulating hormone, and free thyroxine. Screening results had been classified as positive with one or more markers outside the normal range and referred to an endocrinologist. Cases were 512 women with positive results and information on recommended treatment: 204 thyroxine, propylthiouracil or surgery, and 308 no treatment or only iodine. Controls were a sequential sample of 1292 women with negative results. All cases and controls had information on gestation at delivery or birth-weight. Outcome measures were pre-term birth (<37 weeks), low birth-weight (<2.5 kg) and, for singletons, small for gestational age (SGA; <10th percentile).

Results: Among singleton pregnancies, there was a higher prevalence of both pre-term birth (risk ratio (RR) 1.69, 95% confidence interval (CI) 1.21-2.36, p < .002) and low birth-weight (RR 1.72, 95% CI 1.13-2.62, p < .02) in cases compared with controls. An increase in low birth-weight was also present in term pregnancies, but not significant (RR 1.80, 95% CI 0.78-4.14, p = .16), and there was no difference in SGA prevalence (1.24, 95% CI 0.93-1.65, p = .14). Among cases there was no significant difference in these rates according to treatment even after logistic regression, allowing for the individual screening marker levels and maternal weight.

Conclusions: Women with positive thyroid screening results are at increased risk of pre-term birth regardless of thyroid dysfunction or subsequent treatment. An association with low birth-weight is probably secondary to early delivery.

目的根据孕产妇甲状腺筛查结果和后续治疗评估早产、低出生体重和生长受限情况:这是一项非干预性的巢式病例对照研究,研究对象为 10,052 名曾在妊娠头三个月接受过抗甲状腺过氧化物酶抗体、血清促甲状腺激素和游离甲状腺素标记物筛查的无症状妇女。筛查结果被归类为一项或多项指标超出正常范围的阳性,并转诊至内分泌科医生。病例包括512名筛查结果呈阳性的妇女,并提供了建议治疗的信息:204名妇女接受甲状腺素、丙基硫氧嘧啶或手术治疗,308名妇女未接受治疗或仅接受碘治疗。对照组是对 1292 名结果呈阴性的妇女进行的连续抽样调查。所有病例和对照组都有分娩时妊娠或出生体重的信息。结果测量指标为早产(结果:在单胎妊娠中,早产的发生率较高(风险比 (RR) 1.69,95% 置信区间 (CI) 1.21-2.36,p p = .16),而 SGA 的发生率没有差异(1.24,95% CI 0.93-1.65,p = .14)。在病例中,即使考虑到个体筛查标记物水平和产妇体重,根据治疗方法的不同,上述比例也没有明显差异:结论:甲状腺筛查结果呈阳性的女性早产风险增加,与甲状腺功能障碍或后续治疗无关。与低出生体重相关的原因可能是早产。
{"title":"Antenatal screening for thyroid dysfunction: pre-term birth, low birth-weight, and growth restriction.","authors":"Ishraq Dhaifalah, Jana Havalova, Dagmar Langova, Howard Cuckle","doi":"10.1080/14767058.2023.2300416","DOIUrl":"https://doi.org/10.1080/14767058.2023.2300416","url":null,"abstract":"<p><strong>Objective: </strong>To assess pre-term birth, low birth-weight and growth restriction according to maternal thyroid screening results and subsequent treatment.</p><p><strong>Methods: </strong>This is a nonintervention nested case-control study derived from 10,052 asymptomatic women previously screened during the first trimester marker with anti-thyroid peroxidase antibodies, serum thyroid stimulating hormone, and free thyroxine. Screening results had been classified as positive with one or more markers outside the normal range and referred to an endocrinologist. Cases were 512 women with positive results and information on recommended treatment: 204 thyroxine, propylthiouracil or surgery, and 308 no treatment or only iodine. Controls were a sequential sample of 1292 women with negative results. All cases and controls had information on gestation at delivery or birth-weight. Outcome measures were pre-term birth (<37 weeks), low birth-weight (<2.5 kg) and, for singletons, small for gestational age (SGA; <10th percentile).</p><p><strong>Results: </strong>Among singleton pregnancies, there was a higher prevalence of both pre-term birth (risk ratio (RR) 1.69, 95% confidence interval (CI) 1.21-2.36, <i>p</i> < .002) and low birth-weight (RR 1.72, 95% CI 1.13-2.62, <i>p</i> < .02) in cases compared with controls. An increase in low birth-weight was also present in term pregnancies, but not significant (RR 1.80, 95% CI 0.78-4.14, <i>p</i> = .16), and there was no difference in SGA prevalence (1.24, 95% CI 0.93-1.65, <i>p</i> = .14). Among cases there was no significant difference in these rates according to treatment even after logistic regression, allowing for the individual screening marker levels and maternal weight.</p><p><strong>Conclusions: </strong>Women with positive thyroid screening results are at increased risk of pre-term birth regardless of thyroid dysfunction or subsequent treatment. An association with low birth-weight is probably secondary to early delivery.</p>","PeriodicalId":50146,"journal":{"name":"Journal of Maternal-Fetal & Neonatal Medicine","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139404978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Journal of Maternal-Fetal & Neonatal Medicine
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