Fetal Diagnosis and Therapy最新文献

{"title":"Medical and Early Developmental Outcomes for Patients with Congenital Ventriculomegaly.","authors":"Anna Coronel, Karin S Bierbrauer, Hua He, Leandra Kay Tolusso, Jose L Peiro","doi":"10.1159/000542269","DOIUrl":"10.1159/000542269","url":null,"abstract":"<p><strong>Introduction: </strong>This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.</p><p><strong>Methods: </strong>This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between January 1, 2010, and December 31, 2020.</p><p><strong>Results: </strong>Of the 91 patients included in the study, 20 (22.0%) had a genetic diagnosis. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p = 0.022), as was the rate of developmental delay (p = 0.026). The presence of comorbidities (confirmed genetic condition, confirmed maternal exposures or infections, and/or additional anomalies) was not associated with an increased risk of mortality nor developmental delay.</p><p><strong>Conclusions: </strong>Patients diagnosed with congenital ventriculomegaly and a genetic condition have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. Therefore, diagnostic genetic testing should be considered after identification of congenital ventriculomegaly to facilitate counseling about prognosis and care management.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"271-279"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monochorionic Pregnancy Complicated by Selective Intrauterine Fetal Death and Severe Anemia of the Co-Twin: The Role of Intrauterine Transfusion - Systematic Review of the Literature.","authors":"Stefania Carlucci, Maria Sole Scalia, Guglielmo Stabile, Stefano Bettocchi, Tamara Stampalija","doi":"10.1159/000542495","DOIUrl":"10.1159/000542495","url":null,"abstract":"<p><strong>Introduction: </strong>The management of selective intrauterine demise in monochorionic pregnancies has high rates of adverse outcomes in the surviving co-twin. One of the complications might be severe anemia. The aim of this systematic review was to evaluate the role of intrauterine transfusion in case of selective intrauterine fetal death in monochorionic pregnancies with the surviving co-twin diagnosed with severe anemia.</p><p><strong>Methods: </strong>We carried out literature search from PubMed, Google Scholar, and Scopus. Cases with ultrasound signs of severe fetal anemia in the surviving co-twin and treated through fetal intrauterine rescue transfusion alone were included.</p><p><strong>Results: </strong>We selected 7 articles and 45 cases for our review. After an intrauterine transfusion procedure, the percentage of alive and apparently healthy newborns resulted to be 55.5% (25/45), with 15 premature and 10 full-term newborns. Long-term outcomes were not available for the majority of cases.</p><p><strong>Conclusion: </strong>We provide available evidence on the outcome after the rescue intrauterine transfusion for severe anemia in surviving co-twin in selective intrauterine fetal death in monochorionic pregnancy performed within 24 h from the diagnosis. Our results suggest a better outcome compared to expectant management, where delivery is not indicated due to prematurity. This is a useful information for physicians managing these cases and for parents' counseling.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"328-334"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Middle Cerebral Artery Doppler before and after Fetal Spina Bifida Repair: An Indirect Sign of Hindbrain Compression and Decompression?","authors":"Ladina Vonzun, Ladina Ruegg, Julia Zepf, Nele Strübing, Patrice Grehten, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Nicole Ochsenbein-Koelble","doi":"10.1159/000539773","DOIUrl":"10.1159/000539773","url":null,"abstract":"<p><strong>Introduction: </strong>Reduced middle cerebral artery resistance indices (MCA-RI) in fetuses with spina bifida (fSB) are commonly observed. Compression of neuronal pathways in the brainstem due to hindbrain herniation (HH) and disturbed cerebrospinal fluid circulation likely cause an imbalance of the autonomic nervous system. This may increase systemic vasoconstriction and compensatory increase cerebral vasodilation (like brain sparing). The aim of this study was to systematically analyze all fetal MCA-RI before and after fSB repair and to compare their correlation with the presence and postsurgical resolution of HH.</p><p><strong>Methods: </strong>173 patients were included. Standardized ultrasound examinations including MCA and umbilical artery (UA) Doppler as well as assessment of HH presence and regression were performed. Fetuses with MCA-RI <5th percentile (P) before fetal surgery were compared to the group with normal MCA-RI and correlated to the presence of HH before and its regression after fSB repair.</p><p><strong>Results: </strong>30% (49/161) fetuses showed RI's <5th P before fSB repair. All fetuses had normal UA-RI. 99.4% of fetuses (160/161) showed normal of MCA-RI before delivery. Normalization occurred within a mean of 1.3 ± 1.2 weeks. HH regression was observed in 97% in the group with normal MCA-RI and in 96% in the group with MCA-RI <5th P before surgery (p = 0.59). Time lapse to HH regression after fSB repair was 1.8 ± 1.7 and 1.9 ± 1.6 weeks, respectively.</p><p><strong>Conclusion: </strong>In fetuses with MCA-RIs <5 P before fSB repair, a parallel timely course of MCA-RI normalization and HH regression was noted. To suggest common pathogenic factor(s), more studies are needed. However, normalization of the fetal cerebral circulation could be a further benefit of fSB repair.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"185-193"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IFMSS at Forty: You Heard It Here First.","authors":"Karen Mei Xian Lim, Francois I Luks","doi":"10.1159/000541136","DOIUrl":"10.1159/000541136","url":null,"abstract":"<p><strong>Background: </strong>The International Fetal Medicine and Surgery Society (IFMSS) was founded a little over 40 years ago, to offer a collegial, interdisciplinary forum for fetal specialists worldwide. Its inclusive culture has allowed innovations, successes, and failures to be reported freely. The present report examines progress in the field of fetal medicine, as reflected by the diversity and frequency of IFMSS presentations. We also test the hypothesis that throughout the decades, IFMSS has remained at the forefront of new developments in fetal diagnosis and therapy.</p><p><strong>Summary: </strong>The scientific programs of annual conferences were reviewed for title and subject and assigned one or more keywords, and a single category (resulting in absolute, rather than relative incidences of topics). Select procedures covered at IFMSS meetings were plotted over time against comparable queries in PubMed. 5,467 presentations were reviewed and categorized. Keywords were plotted as a heatmap, showing a gradual shift from mostly observational to increasingly invasive studies. The relative interest of particular topics varied widely over the years, from bladder obstruction and renal pathology in early meetings, to complicated twin gestations, to fetal surgery for diaphragmatic hernia and myelomeningocele. Reports on the treatment of twin-to-twin transfusion syndrome, fetal surgery for myelomeningocele and stem cell therapy preceded similar publications in the world literature by several years.</p><p><strong>Key messages: </strong>In its 40-year history, IFMSS has continued to offer an interdisciplinary forum for fetal medicine specialists, even as the topics of interests have evolved with the pace of technology, long-term follow-up, and new scientific discoveries.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"164-171"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Mediterranean Diet or Mindfulness-Based Stress Reduction during Pregnancy on Fetal Brain Development Detected by Neurosonography: A Secondary Analysis of a Randomized Clinical Trial (IMPACT BCN).","authors":"Ayako Nakaki, Yvan Gomez, Katarzyna Darecka, Roger Borras, Kilian Vellvé, Cristina Paules, Maria Laura Boutet, Annachiara Basso, Giulia Casu, Paola Traversi, Lina Youssef, Irene Casas, Mariona Genero, Leticia Benitez, Marta Larroya, Rosa Casas, Jezid Miranda, Sara Castro-Barquero, Víctor Rodríguez-Sureda, Angela Arranz, Óscar J Pozo, Alex Gomez-Gomez, Eduard Vieta, Ramon Estruch, Montserrat Izquierdo Renau, Elisenda Eixarch, Fàtima Crispi, Francesca Crovetto, Eduard Gratacós","doi":"10.1159/000540580","DOIUrl":"10.1159/000540580","url":null,"abstract":"<p><strong>Introduction: </strong>We investigated whether structured maternal lifestyle interventions based on Mediterranean diet or stress reduction influence fetal-infant neurodevelopment detected by detailed fetal neurosonography and Ages and Stages Questionnaires 3rd edition (ASQ) at 12 months old.</p><p><strong>Methods: </strong>This was a secondary analysis of a randomized clinical trial (2017-2020), including 1,221 singleton pregnancies at high risk for small-for-gestational age. Participants were randomized into three groups at 19-23 weeks' gestation: Mediterranean diet intervention, stress reduction program, or usual care. A detailed neurosonography was performed on 881 participants at mean (SD) 33.4 (1.1) weeks' gestation. Neurosonographic measurements were done offline. ASQ was performed on 276 infants at 1 year of corrected age.</p><p><strong>Results: </strong>Biparietal diameter was similar among study groups. Mediterranean diet group fetuses had deeper insula (26.80 [1.68] versus 26.63 [1.75], mm, p = 0.02) and longer corpus callosum (42.98 [2.44] versus 42.62 [2.27], mm, p = 0.04), with a lower rate of suboptimal score infants in ASQ problem-solving domain (6.2 vs. 16.3%, p = 0.03). Stress reduction group fetuses had deeper insula (26.90 [1.75] versus 26.63 [1.75], mm, p = 0.04) and lower rates of suboptimal score infants in ASQ fine motor domain (4.3 vs. 12.8%, p = 0.04), compared to usual care group fetuses.</p><p><strong>Conclusion: </strong>Maternal structured intervention during pregnancy of the trial has the potential to modify offspring's neurodevelopment.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"46-58"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Needle Fetal Thoracoscopy: A Technique to Assist with Ultrasound-Guided Placement of Challenging Thoracoamniotic Shunts.","authors":"Steven T Papastefan, Daniel R Liesman, Katherine C Ott, Federico Scorletti, Xavier F Pombar, Aimen F Shaaban, Amir M Alhajjat","doi":"10.1159/000539274","DOIUrl":"10.1159/000539274","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal thoracoamniotic shunts are common lifesaving interventions but frequently require replacement. Needle fetal thoracoscopy is a technique that uses standard thoracoamniotic shunt introducer sheaths to permit direct visualization and even instrument manipulation during shunt deployment to facilitate optimal positioning and primary shunt function in the most challenging cases.</p><p><strong>Case presentation: </strong>In this study, 5 patients who underwent needle fetal thoracoscopy-assisted thoracoamniotic shunt placement were reviewed. Three patients with large, macrocystic congenital pulmonary airway malformations (CPAMs) with evidence of worsening mediastinal shift and/or hydrops and 2 patients with large chylothorax with fetal hydrops were treated. Four cases had previous shunts that failed due to poor sonographic visualization during initial placement, cyst septations, shunt obstruction, or dislodgment. Needle fetal thoracoscopy was used to disrupt cyst walls and septations, clear hematoma, and confirm the optimal initial position of the shunt. In this series, 1 severe CPAM patient with a short cervix developed preterm labor postoperatively resulting in neonatal demise. The remaining 4 patients experienced resolution of hydrops and progressed to successful delivery with excellent neonatal outcomes.</p><p><strong>Conclusion: </strong>Needle fetal thoracoscopy is a procedure that may be selectively deployed in challenging thoracoamniotic shunt cases impacted by recurrent failure, poor sonographic windows, and challenging fetal positioning.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"178-184"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reflections on the 40th International Fetal Medicine and Surgery Society Meeting Visby-Stockholm 2023.","authors":"Carmen Mesas Burgos, Peter Lindgren","doi":"10.1159/000543300","DOIUrl":"10.1159/000543300","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"105"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.","authors":"Lizhong Yin, Jing Wang, Bin Zhang, Wenli Wang, Bin Yu","doi":"10.1159/000542147","DOIUrl":"10.1159/000542147","url":null,"abstract":"<p><strong>Introduction: </strong>Chromosomal microarray analysis (CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our study was to evaluate clinical management and prognosis of fetuses with prenatal variants of unknown significance (VOUS) and determine diagnostic approaches for subsequent pregnancies.</p><p><strong>Methods: </strong>This study included 2,953 fetuses undergoing CMA at the Prenatal Diagnostic Center of Changzhou Maternal and Child Health Care Hospital from January 2018 to December 2022, identifying 162 cases with VOUS. Parent-of-origin testing determined the origin of copy number variations. Prenatal genetic counseling was provided, and outcomes were followed for 3-36 months post-birth.</p><p><strong>Results: </strong>All 162 VOUS cases received prenatal genetic counseling. Among these, 123 continued the pregnancy; 22 chose termination, and 17 were lost to follow-up. Of the continuations, 116 delivered at term and 7 preterm. Post-birth follow-up showed 5/123 live-born fetuses developed relevant clinical phenotypes. Parent-of-origin testing in 21 cases identified 18 hereditary and 3 de novo variants. Additionally, five subsequent pregnancies were monitored, with two undergoing amniocentesis and three receiving low-risk noninvasive prenatal testing, all with positive outcomes.</p><p><strong>Conclusion: </strong>VOUS, occurring in approximately 5% of cases, require comprehensive prenatal genetic counseling and show generally favorable outcomes. Despite low association with adverse clinical phenotypes, the importance of postnatal follow-up and regular report updates is emphasized to detect potential clinical associations early.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"225-232"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surface Rendering of Cross-Sectional Imaging and Medical Illustration for Perinatal Planning in Conjoined Twins.","authors":"Francois I Luks, Julie Monteagudo, Scott Collins, Stephanie A Eyerly-Webb, Lisa W Howley, Joseph B Lillegard, Inna N Lobeck, Michael J Beninati","doi":"10.1159/000542700","DOIUrl":"10.1159/000542700","url":null,"abstract":"<p><strong>Introduction: </strong>Surface rendering of diagnostic imaging data can reveal hidden conditions with an almost life-like realism. However, early gestation images alone are often insufficient to accurately predict postnatal anatomy. Yet, time-sensitive decisions may have to be made before detailed imaging becomes possible. In this case series, we evaluate how combining medical illustration with cross-sectional diagnostic imaging can enhance the accuracy and clinical value of early visualization of conjoined twins.</p><p><strong>Methods: </strong>Early gestation magnetic resonance imaging scans underwent semiautomated computerized post hoc manipulation to allow the medical illustrator to create the most effective images of the twins.</p><p><strong>Results: </strong>Four sets of conjoined twins were diagnosed before 17 weeks. Surface modeling allowed spatial manipulation of the twins to highlight their anatomic connections. Further volumetric enhancement and critical interpretation of the models assisted the illustrator in creating life-like, accurate images of the twins. These illustrations allowed parents to visualize the likely presentation at birth and helped the multidisciplinary team to plan postnatal management.</p><p><strong>Conclusion: </strong>Surface rendering and surface modeling can be combined with medical illustration to create realistic, informative images of developing fetuses, using a level of detail that is tailored to the intended audience. This may be particularly useful in visualizing complex anomalies like conjoined twins.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"254-261"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Diagnosis of Anomalous Origin of the Left Pulmonary Artery in Fetus with a Right-Sided Aortic Arch - Case Report and Review of the Literature.","authors":"Laura Szlang,Rabih Chaoui,Bernd Opgen-Rhein,Mi-Young Cho,Wolfgang Henrich","doi":"10.1159/000541432","DOIUrl":"https://doi.org/10.1159/000541432","url":null,"abstract":"Introduction Anomalous origin of the left pulmonary artery (AOLPA) is an exceptionally rare congenital malformation, requiring particular care to be detected during fetal echocardiography. Case presentation A 30-year-old woman, gravida 1, para 0, was referred for a mid-trimester anomaly scan. The three-vessel tracheal view in fetal echocardiographic examination led to the prenatal detection of an anomalous origin of the left pulmonary artery in the presence of a right-sided aortic arch. Additionally, a bilateral arterial duct and the ductal origin of the left pulmonary artery (LPA) were detected postnatally. Prenatal diagnosis enabled the scheduling of the delivery in a tertiary perinatal center, immediate postnatal treatment with prostaglandin E1 to avoid obstruction of the isolated LPA as well as surgical repair of the anomaly. Conclusion The rareness of the disease led to only sporadically published cases of prenatal diagnosis of AOLPA. However, early detection makes prenatal diagnosis crucial regarding the infants' outcome. This case report underlines the importance of a meticulous examination of the bifurcation of the pulmonary trunk during fetal echocardiography.","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":"208 1","pages":"1-19"},"PeriodicalIF":2.2,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}