Journal of Perinatal Medicine最新文献

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Rationale for the use of fetal ventriculosubgaleal shunts for the treatment of aqueduct stenosis. 胎儿脑室-小肠镜下分流术治疗导水管狭窄的基本原理。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-09-01 DOI: 10.1515/jpm-2025-0218
Shohra Qaderi, Weston T Northam, Ramen H Chmait, Mark Krieger, Yves Ville, Benjamin C Warf, Amos Grünebaum, Frank A Chervenak, Alireza A Shamshirsaz
{"title":"Rationale for the use of fetal ventriculosubgaleal shunts for the treatment of aqueduct stenosis.","authors":"Shohra Qaderi, Weston T Northam, Ramen H Chmait, Mark Krieger, Yves Ville, Benjamin C Warf, Amos Grünebaum, Frank A Chervenak, Alireza A Shamshirsaz","doi":"10.1515/jpm-2025-0218","DOIUrl":"https://doi.org/10.1515/jpm-2025-0218","url":null,"abstract":"<p><p>Fetal hydrocephalus causes irreversible neural injury <i>in utero</i>, yet no prenatal therapy currently exists. Postnatal treatments such as ventriculoperitoneal shunts and endoscopic third ventriculostomy with choroid plexus cauterization cannot reverse pre-existing brain injury. We propose that the ventriculosubgaleal shunt (VSGS), widely used as a temporizing measure in severely premature neonates, may offer a feasible and ethically justifiable approach for <i>in utero</i> treatment. VSGS placement avoids the complications of ventriculoamniotic shunts and leverages a closed system that can relieve intracranial pressure and potentially preserve brain tissue integrity. Given its technical simplicity, established safety profile, and alignment with core ethical principles - including maternal autonomy and proportional risk-benefit, we argue for consideration of VSGS as an investigational fetal therapy in selected cases of progressive hydrocephalus. Given its investigational status, implementation should be limited to clinical trials with stringent IRB supervision and ethical safeguards.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957731","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 shunting and outcomes in fetuses with non-immune hydrops fetalis. 非免疫性积水胎儿的产前分流和结局。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-26 DOI: 10.1515/jpm-2025-0198
Valentina Fragala, Sanjeev Sabale, Ghalia Ashoor, Christopher Harris, Carolina Zorro, Anne Greenough
{"title":"Antenatal shunting and outcomes in fetuses with non-immune hydrops fetalis.","authors":"Valentina Fragala, Sanjeev Sabale, Ghalia Ashoor, Christopher Harris, Carolina Zorro, Anne Greenough","doi":"10.1515/jpm-2025-0198","DOIUrl":"https://doi.org/10.1515/jpm-2025-0198","url":null,"abstract":"<p><strong>Objectives: </strong>Hydrops fetalis is associated with high morbidity and perinatal mortality. The aim of our study was to compare the outcomes of infants who had non-immune hydrops fetalis (NIHF) who did or did not undergo antenatal shunting<b>.</b></p><p><strong>Methods: </strong>Between January 2014 and June 2023, 20 infants with the diagnosis of NIHF were admitted to the neonatal intensive care unit (NICU) at King's College Hospital NHS Foundation Trust. The criteria for antenatal shunt placement were development of hydrops fetalis, polyhydramnios due to oesophageal compression by a pleural effusion that would likely result in preterm labour or a large pleural effusion (no hydrops at presentation) resulting in likely inferior vena cava compression and significant risk of development of hydrops.</p><p><strong>Results: </strong>The 20 infants had a median gestational age of 34 (27-40) weeks of gestation at delivery and were diagnosed at a median gestational age of 29 (17-40) weeks. Eight infants had a shunt inserted antenatally (six pleuro amniotic and two abdominal amniotic) and they delivered at a significantly later median gestational age (36 vs. 32.5 weeks, p=0.025). After adjustment for gestational age at delivery and antenatal severity, those who had a shunt placed were not more likely to be oxygen dependent at 36 weeks post menstrual age (PMA) and had a lower length of stay (23 vs. 95 days, p=0.019).</p><p><strong>Conclusions: </strong>Infants who had NIHF and had antenatal shunting had favourable outcomes compared to those who did not, despite a more severe antenatal presentation.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958218","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
Sonographic surveillance and perinatal outcomes among pregnancies with periviable fetal growth restriction. 围生期胎儿生长受限孕妇的超声监测和围产期结局。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-22 DOI: 10.1515/jpm-2025-0078
Felicia V LeMoine, Angela C Ranzini, Marisa R Imbroane, Esha V Ghosalkar, David N Hackney, Emily J Hamburg-Shields
{"title":"Sonographic surveillance and perinatal outcomes among pregnancies with periviable fetal growth restriction.","authors":"Felicia V LeMoine, Angela C Ranzini, Marisa R Imbroane, Esha V Ghosalkar, David N Hackney, Emily J Hamburg-Shields","doi":"10.1515/jpm-2025-0078","DOIUrl":"https://doi.org/10.1515/jpm-2025-0078","url":null,"abstract":"<p><strong>Objectives: </strong>This study compared adverse perinatal outcomes between pregnancies complicated by periviable fetal growth restriction (pFGR) that underwent weekly sonographic surveillance vs. serial growth surveillance.</p><p><strong>Methods: </strong>In this retrospective cohort study, pFGR was defined as a 22 0/7-27 6/7-week singleton, <500 g, and ≤10 % for gestational age. The surveillance group initiated weekly Doppler surveillance while the serial growth (SG) group underwent growth assessment every 3-4 weeks between 22 and 27 6/7 weeks. Adverse perinatal outcomes were compared.</p><p><strong>Results: </strong>Eighty-one (36.2 %) underwent weekly Doppler surveillance. Chronic hypertension (18.5 % vs. 9.1 %, p=0.04), a prior history of fetal demise (8.6 % vs. 2.1 %, p=0.02), and an estimated fetal weight <3 % (22.2 % vs. 10.5 %, p=0.02) and any abnormal umbilical artery Doppler pattern at diagnosis (25.8 % vs. 12.9 %, p=0.046) occurred more frequently in the weekly Doppler surveillance group than the SG group. Despite no difference in perinatal death, the surveillance group demonstrated a higher rate of obstetric (65.4 % vs. 42.7 %, p<0.05) and neonatal (60.8 % vs. 28.4 %, p<0.05) adverse outcome composites compared to the SG group.</p><p><strong>Conclusions: </strong>The surveillance group experienced increased rates of obstetric and neonatal morbidity without difference in perinatal death though interpretation is limited by the observational nature of this study.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957946","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
Amniotic Fluid Embolism: a comprehensive review of diagnosis and management. 羊水栓塞:诊断和管理的综合回顾。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-22 DOI: 10.1515/jpm-2025-0161
Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Caroline Setiawan, Sri Sulistyowati, Milan Stanojevic, Asim Kurjak
{"title":"Amniotic Fluid Embolism: a comprehensive review of diagnosis and management.","authors":"Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Caroline Setiawan, Sri Sulistyowati, Milan Stanojevic, Asim Kurjak","doi":"10.1515/jpm-2025-0161","DOIUrl":"https://doi.org/10.1515/jpm-2025-0161","url":null,"abstract":"<p><strong>Introduction: </strong>Amniotic Fluid Embolism (AFE) is a rare but catastrophic obstetric emergency characterized by the sudden entry of amniotic fluid or fetal debris into the maternal circulation. This triggers acute cardiopulmonary collapse, disseminated intravascular coagulation (DIC), and multi-organ failure. Despite its low incidence, AFE remains a significant contributor to maternal mortality worldwide. The pathophysiology is poorly understood, involving immune-mediated anaphylactoid reactions and mechanical vascular obstruction.</p><p><strong>Content: </strong>This review provides a comprehensive synthesis of current knowledge on AFE, examining its epidemiology, pathophysiology, risk factors, clinical manifestations, diagnostic challenges, and management strategies. A systematic literature review was conducted following PRISMA guidelines, incorporating peer-reviewed articles and clinical protocols published from 2000 to 2024. Clinical tools such as diagnostic algorithms and resuscitation frameworks were developed from aggregated evidence and thematic analysis.</p><p><strong>Summary: </strong>AFE typically presents intrapartum or in the immediate postpartum period with sudden hypoxia, hypotension, and coagulopathy. Diagnosis is clinical, as no single confirmatory biomarker currently exists. Management is primarily supportive, focusing on rapid resuscitation, hemodynamic stabilization, and aggressive coagulopathy correction. Emerging strategies such as the A-OK regimen (Atropine, Ondansetron, Ketorolac) are discussed as investigational approaches under consideration.</p><p><strong>Outlook: </strong>AFE continues to challenge obstetric and critical care teams due to its abrupt onset and high fatality. Future priorities include the development of validated diagnostic biomarkers, refinement of therapeutic interventions, and establishment of standardized multidisciplinary response protocols to improve maternal and neonatal outcomes.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958253","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
A novel approach to calculating expected total fetal lung volume in fetuses with isolated congenital diaphragmatic hernia and fetal growth restriction: a theoretical computational simulation. 一种计算孤立性先天性膈疝和胎儿生长受限胎儿预期总肺容量的新方法:理论计算模拟。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-22 DOI: 10.1515/jpm-2024-0584
Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes
{"title":"A novel approach to calculating expected total fetal lung volume in fetuses with isolated congenital diaphragmatic hernia and fetal growth restriction: a theoretical computational simulation.","authors":"Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes","doi":"10.1515/jpm-2024-0584","DOIUrl":"https://doi.org/10.1515/jpm-2024-0584","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital Diaphragmatic Hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.</p><p><strong>Methods: </strong>A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to calculate corrected O/E TFLV. Estimated mortality probabilities and CDH severity were compared pre- and post-adjustment.</p><p><strong>Results: </strong>Standard vs. corrected O/E TFLV means differed significantly (36.2% vs. 43.5 %) (p<0.001), as did corrected mortality probabilities (60.2% vs. 58.6 %) (p<0.001). CDH severity shifted: severe to moderate (17.1 %) and moderate to mild (8.6 %) with corrected O/E TFLV. Two-week corrections had greater impact than 1-week. Positive correlation existed between O/E TFLV and percent difference in values, while GA showed a negative correlation with the percent differences.</p><p><strong>Conclusions: </strong>This simulation shows how using weight-adjusted GA norms affects O/E TFLV calculations. For fetuses with isolated CDH and FGR, adjusted GA increases O/E TFLV, reduces mortality estimates, and changes CDH severity classification, possibly affecting fetal intervention eligibility. Real patient studies are needed to confirm these findings.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144958255","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 of serum miR-203a-3p with the severity of neonates with necrotizing enterocolitis and analysis of its molecular mechanism. 血清miR-203a-3p与新生儿坏死性小肠结肠炎严重程度的相关性及分子机制分析
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-08 DOI: 10.1515/jpm-2025-0102
Fengna Zhu, Zhengjiang Jin, Weiyu Liu, Hongyan Liu
{"title":"Correlation of serum miR-203a-3p with the severity of neonates with necrotizing enterocolitis and analysis of its molecular mechanism.","authors":"Fengna Zhu, Zhengjiang Jin, Weiyu Liu, Hongyan Liu","doi":"10.1515/jpm-2025-0102","DOIUrl":"https://doi.org/10.1515/jpm-2025-0102","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study was to examine the role of microRNA-203a-3p (miR-203a-3p) in the pathogenesis of necrotizing enterocolitis (NEC).</p><p><strong>Methods: </strong>Quantitative real-time polymerase chain reaction (qRT-PCR) and receiver operating characteristic (ROC) curve analysis were employed to evaluate the relative abundances of miR-203a-3p as well as its diagnostic capacity. Logistic regression was applied to search for influential risk factors associated with NEC in neonates. Cell behaviors were assessed with flow cytometry and CCK-8 detection. The target genes of miR-203a-3p and its potential biological functions were analyzed via bioinformatic analysis.</p><p><strong>Results: </strong>A significant reduction in serum levels of miR-203a-3p was observed in neonates with NEC. Notably, this miRNA exhibited exceptional diagnostic precision for differentiating NEC from non-NEC cases, as evidenced by an area under the curve (AUC) of 0.928. Furthermore, miR-203a-3p was established as an independent indicator for assessing the severity of NEC. In an NEC cell model, levels of miR-203a-3p were distinctly diminished; however, this decrease was significantly reversed following transfection with miR-203a-3p (p<0.001). Correspondingly, findings were noted regarding cell apoptosis, cell viability, inflammatory indicators, and antioxidant enzyme activities. MiR-203a-3p-related genes predominantly clustered within inflammatory-associated signaling pathways and proteins, particularly ataxia telangiectasia mutated (ATM). Notably, miR-203a-3p was found to directly target ATM. Importantly, heightened levels of ATM were detected in both neonates with NEC and LPS-triggered fetal human colon (FHC) cells (p<0.001).</p><p><strong>Conclusions: </strong>MiR-203a-3p alleviates LPS-induced inflammatory damage in FHC cells through regulating ATM, thereby presenting a promising avenue for the development of novel therapeutic strategies for neonates with NEC.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794748","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
Association of in vitro fertilization with cesarean delivery in nulliparous, term, singleton, vertex pregnancies. 无产、足月、单胎、顶点妊娠中体外受精与剖宫产的关系。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-07 DOI: 10.1515/jpm-2025-0004
Rachel L Solmonovich, Frank Jackson, Alejandro Alvarez, Insaf Kouba, Julie Chen, Randi H Goldman, Matthew J Blitz
{"title":"Association of <i>in vitro</i> fertilization with cesarean delivery in nulliparous, term, singleton, vertex pregnancies.","authors":"Rachel L Solmonovich, Frank Jackson, Alejandro Alvarez, Insaf Kouba, Julie Chen, Randi H Goldman, Matthew J Blitz","doi":"10.1515/jpm-2025-0004","DOIUrl":"https://doi.org/10.1515/jpm-2025-0004","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the potential relationship between <i>in vitro</i> fertility and cesarean delivery among nulliparous, term, singleton, vertex pregnancies.</p><p><strong>Methods: </strong>Retrospective cohort study involving nulliparous, term, singleton, vertex patients who delivered between 1/2019 and 12/2022. The primary exposure was <i>in vitro</i> fertility. The primary outcome was cesarean delivery. Basic inferential statistics were performed using the chi-square test of association to examine relationships between categorical variables. A logistic regression was used to model the probability of cesarean delivery as a function of <i>in vitro</i> fertility. Odds ratios, and their associated 95 % confidence interval (CI) were computed. An alpha value of 0.05 was considered statistically significant.</p><p><strong>Results: </strong>A total of 36,703 pregnancies were included for analysis, of which 987 (2.69 %) were conceived by <i>in vitro</i> fertility. The overall cesarean delivery rate was 29.27 % (n=10,743). Using adjusted logistic regression, <i>in vitro</i> fertility was associated with 1.99 times the odds of cesarean delivery (95 % CI 1.75-2.28) compared to non-in vitro fertility pregnancies. The most frequent indications among the IVF cohort were obstetrical (40.82 %) and fetal (36.91 %). A sub-analysis of those who underwent induction of labor found that <i>in vitro</i> fertility was associated with 1.59 times the odds of cesarean delivery (95 % CI 1.35-1.88) compared to non-in vitro fertility pregnancies.</p><p><strong>Conclusions: </strong><i>In vitro</i> fertility is associated with higher rates of cesarean delivery in nulliparous, term, singleton, vertex pregnancies. Recognizing this association provides a foundation for future research and quality improvement measures to safely lower the nulliparous, term, singleton, vertex cesarean delivery rate and decrease risk to mother and infant among these highly desired pregnancies.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794747","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
Feasibility and reproducibility of speckle tracking echocardiography in routine assessment of the fetal heart in a low-risk population: a commentary letter. 斑点跟踪超声心动图在低风险人群胎儿心脏常规评估中的可行性和可重复性:评论信。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-05 DOI: 10.1515/jpm-2025-0193
Eline Meireson, Judith O E H van Laar, Kristien Roelens, Noortje H M van Oostrum
{"title":"Feasibility and reproducibility of speckle tracking echocardiography in routine assessment of the fetal heart in a low-risk population: a commentary letter.","authors":"Eline Meireson, Judith O E H van Laar, Kristien Roelens, Noortje H M van Oostrum","doi":"10.1515/jpm-2025-0193","DOIUrl":"https://doi.org/10.1515/jpm-2025-0193","url":null,"abstract":"","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784507","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
From exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis. 从畸形到无脑:从胚胎发育到超声诊断的神经管缺陷的灾难性连续体。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-05 DOI: 10.1515/jpm-2025-0125
Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Sri Sulistyowati, Milan Stanojevic, Asim Kurjak
{"title":"From exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis.","authors":"Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Sri Sulistyowati, Milan Stanojevic, Asim Kurjak","doi":"10.1515/jpm-2025-0125","DOIUrl":"https://doi.org/10.1515/jpm-2025-0125","url":null,"abstract":"<p><strong>Introduction: </strong>Neural tube defects (NTDs) are severe congenital anomalies arising from incomplete closure of the neural tube during early embryogenesis. Among cranial NTDs, exencephaly, acrania, and anencephaly represent a progressive developmental continuum, leading to major cerebral destruction and absence of cranial structures.</p><p><strong>Content: </strong>This narrative integrative review synthesizes embryological mechanisms, historical documentation, epidemiology, genetic and environmental risk factors, and advances in prenatal imaging for acrania, exencephaly, and anencephaly. Special focus is placed on the sequential ultrasonographic findings from the first to third trimester, highlighting the transformation across this continuum. Future research possibilities, including predictive artificial intelligence models, noninvasive genetic risk profiling, and experimental <i>in utero</i> therapies, are also discussed.</p><p><strong>Summary: </strong>Drawing on data from over 50 peer-reviewed studies, this review integrates knowledge across embryology, teratology, maternal-fetal medicine, genetics, imaging, and bioethics. It aims to guide fetal medicine specialists, radiologists, genetic counsellors, and researchers in understanding, diagnosing, and counselling for these cranial neural tube defects.</p><p><strong>Outlook: </strong>Future directions emphasize precision prevention strategies, including optimized maternal folate supplementation, enhanced prenatal screening, and potential genomic therapies for high-risk pregnancies.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784508","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
Outcomes in pregnant patients with congenital heart disease by rurality. 农村地区妊娠期先天性心脏病患者预后分析。
IF 1.4 4区 医学
Journal of Perinatal Medicine Pub Date : 2025-08-05 Print Date: 2025-09-25 DOI: 10.1515/jpm-2024-0627
Mehr Jain, Franklin Iheanacho, Kristen Sparagna, Shimon Shaykevich, Camilo E Jaimes Cobos, Fernando Baraona Reyes, Michael H Dahan, Maria A Pabon
{"title":"Outcomes in pregnant patients with congenital heart disease by rurality.","authors":"Mehr Jain, Franklin Iheanacho, Kristen Sparagna, Shimon Shaykevich, Camilo E Jaimes Cobos, Fernando Baraona Reyes, Michael H Dahan, Maria A Pabon","doi":"10.1515/jpm-2024-0627","DOIUrl":"10.1515/jpm-2024-0627","url":null,"abstract":"<p><strong>Objectives: </strong>To examine the association between rurality, major adverse cardiac events (MACE), adverse pregnancy outcomes (APO) and neonatal outcomes in pregnant women with CHD (congenital heart disease).</p><p><strong>Methods: </strong>A retrospective cohort study using the HCUP-NIS database (Healthcare Cost and Utilization Project-National Inpatient Sample) from 2016 to 2021 was conducted with pregnant CHD patients by location of residence (urban vs. rural). Primary outcomes were MACE, APO and neonatal outcomes. Multivariate logistic regression with survey procedures and weighted odds ratios was used to represent national estimates.</p><p><strong>Results: </strong>The weighted sample represented 24,295 (n=4,859) patients, of which 20,840 (n=4168) were in urban setting and 3,455 (n=691) lived rurally. Only 27 % (n=185/691) of rural patients accessed care at a rural hospital. Rurality was associated with lower odds of APO (adjusted-OR 0.76; 95 %-CI 0.63-0.91; p=0.003). Rural patients with complex CHD had the lowest odds of APO. There was no statistically significant difference, by rurality, in odds of MACE (adjusted-OR 1.17; 95 %-CI 0.98-1.40; p=0.09) or neonatal outcomes (adjusted-OR 0.78; 95 %-CI 0.59-1.03; p=0.082). There was no effect modification of rurality by CHD complexity on the association between rurality and MACE (p-value=0.66), APO (p-value=0.60) or neonatal outcomes (p-value=0.75).</p><p><strong>Conclusions: </strong>In this national cohort, pregnant patients with CHD living in rural areas had decreased odds of APO and no significant difference in MACE or neonatal complications. Notably, the majority of rural CHD patients received care in urban hospitals, suggesting referral patterns may mitigate outcome disparities. These findings highlight the need for further research on access, delivery of care, and outcomes for rural patients with CHD, and underscore the importance of ensuring multidisciplinary cardio-obstetric care across geographic settings.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"900-907"},"PeriodicalIF":1.4,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784509","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}
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