Fetal Diagnosis and Therapy最新文献

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Surface-extraction MRI of the fetal brain: an improved approach for diagnosing anomalies associated with antenatal absence of the septum pellucidum. 胎儿脑表面提取MRI:一种诊断与产前透明隔缺失相关的异常的改进方法。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-10-10 DOI: 10.1159/fdt/acuag018
Yvan Gomez, Joanna Sichitiu, Sébastien Lebon, Meritxell Bach Cuadra, Mériam Koob, Estelle Dubruc, Elisenda Eixarch, Leo Pomar
{"title":"Surface-extraction MRI of the fetal brain: an improved approach for diagnosing anomalies associated with antenatal absence of the septum pellucidum.","authors":"Yvan Gomez, Joanna Sichitiu, Sébastien Lebon, Meritxell Bach Cuadra, Mériam Koob, Estelle Dubruc, Elisenda Eixarch, Leo Pomar","doi":"10.1159/fdt/acuag018","DOIUrl":"https://doi.org/10.1159/fdt/acuag018","url":null,"abstract":"<p><strong>Introduction: </strong>Prenatal imaging is crucial for evaluating neurological development in cases of absence of septum pellucidum (ASP), which may be associated with a spectrum of cortical, cerebellar and ocular anomalies and variable neurodevelopmental outcomes. Recent advances in fetal MRI techniques have improved the detection and characterization of subtle brain abnormalities.</p><p><strong>Case report: </strong>A pregnant patient was referred to our tertiary centre for targeted neurosonography at 28weeks of gestation, confirming ASP initially considered isolated. Fetal MRI at 33 weeks suspected associated cortical malformations, with unilateral peri-sylvian polymicrogyria and closed lip schizencephaly, but it partially limited by motion artefacts. Subsequent super‑resolution reconstruction (SRR) and cortical surface extraction confirmed the presence of polymicrogyria associated with schizencephaly. Post-MRI neurosonography also confirmed unilateral perisylvian polymicrogyria and schizencephaly. Following multidisciplinary discussion parents opted for termination of pregnancy. Post‑mortem neuropathological examination confirmed the imaging findings, demonstrating polymicrogyria associated with schizencephaly in the right perisylvian region.</p><p><strong>Conclusion: </strong>This case highlights the possible added diagnostic value of advanced fetal MRI post‑processing, which enabled precise characterization of cortical abnormalities not confidently identified on conventional imaging. The strong correlation with neuropathological findings supports the potential role of surface‑based analysis in improving diagnostic accuracy and prenatal counselling in cases of ASP.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149164132","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}
引用次数: 0
Comparison of treatment and outcome between Myelomeningocele and Myeloschisis after open fetal repair - experience after first 200 cases. 开放性胎儿修复术后髓脊膜膨出与髓裂的治疗及疗效比较——前200例体会。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-10-10 DOI: 10.1159/fdt/acuag020
Mark Boudewijns, Theres Moehrlen, Beth Padden, Patrice Grehten, Sandra Fernandes Dias, Luca Mazzone, Sasha J Tharakan, Nicole Ochsenbein-Kölble, Ladina Vonzun, Tim Gerwinn, Ueli Moehrlen
{"title":"Comparison of treatment and outcome between Myelomeningocele and Myeloschisis after open fetal repair - experience after first 200 cases.","authors":"Mark Boudewijns, Theres Moehrlen, Beth Padden, Patrice Grehten, Sandra Fernandes Dias, Luca Mazzone, Sasha J Tharakan, Nicole Ochsenbein-Kölble, Ladina Vonzun, Tim Gerwinn, Ueli Moehrlen","doi":"10.1159/fdt/acuag020","DOIUrl":"https://doi.org/10.1159/fdt/acuag020","url":null,"abstract":"<p><strong>Background: </strong>Open fetal repair of spina bifida, encompassing myelomeningocele (MMC) and myeloschisis (MS), aims to mitigate neurological damage via early intervention. While both entities share a pathophysiological foundation, their clinical presentations and surgical challenges differ.</p><p><strong>Objective: </strong>To compare postnatal outcomes, particularly wound closure, CSF diversion, and motor function, between fetal MMC and MS repairs at a single high-volume center.</p><p><strong>Methods: </strong>This retrospective cohort study eventually included 187 patients who underwent open fetal SB repair between 2010 and 2023. Perioperative data, wound-related complications, need for CSF diversion, and 3-year motor outcomes were analyzed and compared between MMC and MS subtypes.</p><p><strong>Results: </strong>Of the included patients, 130 (69.5%) presented with MMC and 57 (30.5%) MS. Primary skin closure was achieved significantly more often in MMC (than MS (91.5% vs. 47.4%, p < 0.001), while the overall need for any postnatal surgical intervention was significantly higher in MS compared to MMC (17.5% vs. 3.1%, p = 0.001). Deeper closure techniques (myofascial and dural repair) showed no differences between groups. Cerebrospinal fluid (CSF) diversion within the first year was required in 33% of all cases. Prenatal limb movement was more frequently observed in MS. At 3 years, ambulation outcomes were comparable, with over 75% (MMC: 75.3%, MS: 78.0%) of patients in both groups achieving community walking status.</p><p><strong>Conclusion: </strong>Myeloschisis and myelomeningocele are distinct entities within open spina bifida, with MS posing greater technical challenges for skin closure but suggesting a more favorable prenatal neurological profile. Despite these differences, long-term outcomes regarding motor function and CSF management were equivalent, underscoring the effectiveness of fetal surgery across both subtypes.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149164656","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}
引用次数: 0
Endotracheal Balloon Bursting: Modified Technique for Percutaneous Ultrasound-Guided Balloon Puncture to Reverse Tracheal Occlusion in Congenital Diaphragmatic Hernia. 气管内球囊爆破:经皮超声引导球囊穿刺治疗先天性膈疝气管闭塞的改进技术。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-10-09 DOI: 10.1159/fdt/acuag009
Rogelio Cruz-Martínez, Saulo Molina-Giraldo, Savino Gil-Pugliese, Antonio Helue-Mena, Oscar Lavalle-López, Rubén Huaraz-Zuloaga, Marco Del Pozo-Orozco
{"title":"Endotracheal Balloon Bursting: Modified Technique for Percutaneous Ultrasound-Guided Balloon Puncture to Reverse Tracheal Occlusion in Congenital Diaphragmatic Hernia.","authors":"Rogelio Cruz-Martínez, Saulo Molina-Giraldo, Savino Gil-Pugliese, Antonio Helue-Mena, Oscar Lavalle-López, Rubén Huaraz-Zuloaga, Marco Del Pozo-Orozco","doi":"10.1159/fdt/acuag009","DOIUrl":"10.1159/fdt/acuag009","url":null,"abstract":"<p><strong>Introduction: </strong>Fetuses with congenital diaphragmatic hernia (CDH) treated with fetal endoscopic tracheal occlusion (FETO) require a second procedure to reverse tracheal occlusion before birth. In this study, we aimed to report the feasibility and perinatal outcomes of a modified technique for ultrasound-guided balloon bursting used as a primary attempt.</p><p><strong>Methods: </strong>From January 2012 to December 2025 a prospective cohort of isolated CDH cases treated with FETO was included in a management protocol for balloon removal by a percutaneous balloon bursting using a 22-gauge needle in a transversal view of the fetal trachea under simultaneous 2D and color Doppler ultrasound guidance (dual imaging) to avoid vessels. The feasibility of this technique, procedure-related characteristics, complications, and outcomes were evaluated.</p><p><strong>Results: </strong>During the study period, 88 (74 left-sided, and 14 right-sided) CDH were treated with FETO at a mean GA of 29.6 weeks. The balloon was removed at a mean GA of 33.8 weeks and as an emergency procedure in up to 40.7% of the cases. Percutaneous ultrasound-guided balloon puncture was feasible in 80% of the cases. Our technique was technically successful and allowed balloon rupture in up to 98.5% of the selected cases. No cases of fetal bleeding or intrauterine fetal demise after balloon removal were observed and, in all cases, a patent airway was confirmed after birth.</p><p><strong>Conclusion: </strong>Implementing a modified technique for percutaneous ultrasound-guided balloon bursting is safe and feasible and allows balloon rupture, avoiding the need for a second fetoscopic procedure for the reversal of FETO.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148196","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}
引用次数: 0
Assessment of Normal Fetal Cranial Nerve Development from 14 to 28 Weeks of Gestation on Postmortem 3-Tesla MRI. 尸检3特斯拉MRI对妊娠14 ~ 28周正常胎儿脑神经发育的评价。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-10-09 DOI: 10.1159/fdt/acuag010
Deepika Raja, Rajeswaran Rangaswami, Richa Verma, Lawrence D Cruze, Suresh Seshadri, Lata S, Mohanasankar Sivaprakasam
{"title":"Assessment of Normal Fetal Cranial Nerve Development from 14 to 28 Weeks of Gestation on Postmortem 3-Tesla MRI.","authors":"Deepika Raja, Rajeswaran Rangaswami, Richa Verma, Lawrence D Cruze, Suresh Seshadri, Lata S, Mohanasankar Sivaprakasam","doi":"10.1159/fdt/acuag010","DOIUrl":"10.1159/fdt/acuag010","url":null,"abstract":"<p><strong>Introduction: </strong>High-resolution postmortem magnetic resonance imaging (MRI) is increasingly used to assess anomalies and can serve as a complementary tool to conventional autopsy. The main aim of this study was to detect and measure the diameter of cranial nerves across gestation.</p><p><strong>Methods: </strong>This observational study was conducted at a tertiary referral hospital and included 150 fetuses from 14 to 28 weeks of gestation with normal brain findings.</p><p><strong>Results: </strong>The optic nerve was identified the earliest at 15 weeks, with a mean diameter of 0.62 mm at 15 weeks and 1.49 mm at 27 weeks. The oculomotor nerve was identified earliest at 21 weeks, with a mean diameter of 0.94 mm at 21 weeks and 1.21 mm at 27 weeks. The trigeminal nerve was seen earliest at 21 weeks, with a mean diameter of 0.9 mm at 21 weeks and 1.2 mm at 27 weeks. The cranial nerve VII-VIII complex was seen earliest at 18 weeks, with a mean diameter 0.9 mm at 18 weeks and 1.14 mm at 27 weeks. Cranial nerve IX-X-XI was identified earliest at 24 weeks, with a mean diameter of 1.03 mm at 24 weeks and 1.15 mm at 27 weeks.</p><p><strong>Conclusion: </strong>High-resolution postmortem MRI enables visualization and measurement of fetal cranial nerves II, III, V, VII-VIII, and IX-X-XI, whereas cranial nerves I, IV, VI, and XII were not identifiable in our cohort. These findings provide normative reference data for the assessment of fetal cranial nerves in postmortem studies.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147931","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}
引用次数: 0
Postnatal Clinical Course in Fetuses Diagnosed with Tetralogy of Fallot and Double-Outlet Right Ventricle with Absent Ductus Arteriosus. 法洛四联症和双出口右心室伴动脉导管缺失胎儿的产后临床病程。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-25 DOI: 10.1159/fdt/acuag013
Ken Hayashi, Yoichiro Ishii, Masayoshi Mori, Kumiyo Matsuo, Dai Asasda, Kazuki Tanimoto, Tomomitsu Kanaya, Sanae Tsumura, Hisaaki Aoki
{"title":"Postnatal Clinical Course in Fetuses Diagnosed with Tetralogy of Fallot and Double-Outlet Right Ventricle with Absent Ductus Arteriosus.","authors":"Ken Hayashi, Yoichiro Ishii, Masayoshi Mori, Kumiyo Matsuo, Dai Asasda, Kazuki Tanimoto, Tomomitsu Kanaya, Sanae Tsumura, Hisaaki Aoki","doi":"10.1159/fdt/acuag013","DOIUrl":"10.1159/fdt/acuag013","url":null,"abstract":"<p><strong>Introduction: </strong>Absent ductus arteriosus (ADA) in fetuses with tetralogy of Fallot (TOF) and TOF-type double-outlet right ventricle (DORV) remains poorly characterized. The absence of a patent ductus arteriosus (PDA) precludes prostaglandin-mediated maintenance of ductal patency and may necessitate early postnatal intervention.</p><p><strong>Methods: </strong>This retrospective study reviewed 31 consecutive fetuses diagnosed with TOF (n = 23) or TOF-type DORV (n = 8) between April 2018 and March 2025. Fetal echocardiographic measurements in the third trimester included pulmonary valve (PV), aortic valve (AoV), main pulmonary artery (MPA), and ascending aorta (AA) diameters. The patients were stratified according to ADA (n = 14) or PDA (n = 17). Postnatal outcomes, including systemic-to-pulmonary (SP) shunt necessity, timing, and rate of valve annulus preservation at definitive repair were assessed.</p><p><strong>Results: </strong>Patients with ADA demonstrated smaller fetal PV/AoV ratios (0.59 ± 0.07 vs. 0.68 ± 0.12; p = 0.03), MPA z-scores (-2.3 ± 0.9 vs. -1.4 ± 0.7; p = 0.008), and MPA/AA ratios (0.61 ± 0.08 vs. 0.71 ± 0.09; p = 0.005) than in fetuses with PDA. While SP shunt rates during initial admission were similar (50% vs. 23%; p = 0.20), ADA required higher cumulative SP rates before definitive repair (78% vs. 35%; p < 0.01). Valve annulus preservation rates were comparable between the 2 groups (72% vs. 65%; p = 0.85).</p><p><strong>Conclusion: </strong>ADA was associated with significantly smaller right ventricular outflow tract dimensions. Although ADA requires a more staged intervention, valve preservation rates at definitive repair are similar to those in PDA cases.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149059385","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}
引用次数: 0
Longitudinal Outcomes of Fetuses with an Isolated Narrow Cavum Septi Pellucidi: Prenatal Diagnosis to Early Childhood Neurodevelopment Assessment. 孤立性窄腔透明鼻中隔胎儿的纵向预后:产前诊断到儿童早期神经发育评估。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-15 DOI: 10.1159/fdt/acuag014
Anju Bhatia, Maegan Yingrui Ng, Si Hui Chu, June V K Tan, Suresh Chandran
{"title":"Longitudinal Outcomes of Fetuses with an Isolated Narrow Cavum Septi Pellucidi: Prenatal Diagnosis to Early Childhood Neurodevelopment Assessment.","authors":"Anju Bhatia, Maegan Yingrui Ng, Si Hui Chu, June V K Tan, Suresh Chandran","doi":"10.1159/fdt/acuag014","DOIUrl":"10.1159/fdt/acuag014","url":null,"abstract":"<p><strong>Introduction: </strong>The objective of this study was to evaluate prenatal and postnatal immediate and long-term outcomes of fetuses with an isolated narrow cavum septi pellucidi (CSP).</p><p><strong>Methods: </strong>Single-center retrospective review of a cohort of fetuses with an isolated narrow CSP (below -2 standard deviations [SDs] for gestational age [GA]) identified on mid-trimester anomaly scan from 2017 to 2022.</p><p><strong>Results: </strong>During the 6 years, 77,546 pregnant women underwent anomaly screening scan, and 228 were identified with an isolated narrow fetal CSP. A follow-up ultrasound at a mean GA of 28.9 weeks showed that CSP measurements were normalized in 58.5% of cases, while in the remaining cases, they were below -2 SD for the respective GA. There were no additional cerebral findings; however, three fetuses were growth-restricted. Among these, 130 mothers delivered at our institution, at a mean GA of 38.3 weeks, and were followed for perinatal and long-term neurodevelopmental outcomes. Clinical examination at birth was unremarkable for all neonates. For the majority of them (n = 105/130), cranial scan at 1 month was normal, and minor findings were noted in 18 cases. Neurodevelopmental outcomes were normal for 81.5% (n = 106) of infants at 2 years, while 24 (18.5%) were referred to the Child Development Unit with concerns regarding speech and language delay, behavioral issues, gross motor delay, and global developmental delay. Extended follow-up showed normal outcomes for 89.2% (n = 116) of cases, nine out of 15 children with speech-language delay had improved, while 5 (3.85%) were diagnosed with autism spectrum disorder.</p><p><strong>Conclusion: </strong>An isolated narrow CSP is a benign, transitory subtle anatomical finding in prenatal brain. However, its identification should prompt detailed neuroimaging and evaluation to exclude associated abnormalities. The long-term neurodevelopmental outcome is overall good when the finding is isolated.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976429","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}
引用次数: 0
Prenatal Diagnosis of Aortopulmonary Window: A Rare Case Report. 产前诊断主动脉肺窗1例报告。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-05 DOI: 10.1159/fdt/acuag012
Ayse Duygu Tufan Yildirim, Yasemin Ozdemir Sahan, Eda Ozden Tokalıoglu, Dilek Sahin
{"title":"Prenatal Diagnosis of Aortopulmonary Window: A Rare Case Report.","authors":"Ayse Duygu Tufan Yildirim, Yasemin Ozdemir Sahan, Eda Ozden Tokalıoglu, Dilek Sahin","doi":"10.1159/fdt/acuag012","DOIUrl":"10.1159/fdt/acuag012","url":null,"abstract":"<p><strong>Introduction: </strong>Aortopulmonary window (APW) is a rare conotruncal cardiac anomaly that is rarely diagnosed prenatally.</p><p><strong>Case presentation: </strong>We report a case of APW identified by detailed fetal echocardiography and confirmed after birth, associated with esophageal atresia with distal tracheoesophageal fistula, duodenal atresia, and anal atresia. Prenatal imaging demonstrated an abnormal communication between the ascending aorta and the main pulmonary artery, allowing delivery planning at a tertiary center and early multidisciplinary management.</p><p><strong>Conclusion: </strong>This case highlights the importance of careful assessment of the great arteries during fetal echocardiography and the value of prenatal diagnosis for optimizing perinatal management.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148896854","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}
引用次数: 0
Prenatal Ultrasound and MRI of Bowel Abnormalities in Cystic Fibrosis with in utero Cystic Fibrosis Transmembrane Conductance Regulator Modulator Exposure: A Case Series. 产前超声和MRI对子宫内CFTR调节剂暴露的囊性纤维化患者肠道异常的观察:一个病例系列。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-01 DOI: 10.1159/fdt/acuag006
Noelia Rodriguez Mier, Ebbe Vermeulen, Mieke Boon, François Vermeulen, Anne Devos, Michael Aertsen, Jute Richter, Anne Debeer, Marijke Proesmans
{"title":"Prenatal Ultrasound and MRI of Bowel Abnormalities in Cystic Fibrosis with in utero Cystic Fibrosis Transmembrane Conductance Regulator Modulator Exposure: A Case Series.","authors":"Noelia Rodriguez Mier, Ebbe Vermeulen, Mieke Boon, François Vermeulen, Anne Devos, Michael Aertsen, Jute Richter, Anne Debeer, Marijke Proesmans","doi":"10.1159/fdt/acuag006","DOIUrl":"10.1159/fdt/acuag006","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis (CF) can present prenatally as fetal hyperechogenic bowel (FEB) or meconium ileus (MI), indicating early CFTR dysfunction. Elexacaftor/tezacaftor/ivacaftor (ETI) partially restores CFTR function and limited reports suggest it may benefit fetuses when administered maternally.</p><p><strong>Case presentation: </strong>We report four pregnancies in CF carrier mothers with confirmed or presumed fetal CF after FEB detection, treated off-label with ETI. Fetal bowel status was monitored via ultrasound and MRI, and maternal safety was assessed. In case 1, ETI from 26 to 36 weeks normalized bowel appearance; the infant had normal meconium passage. In case 2, ETI at 30 weeks improved bowel findings in a fetus with CF and congenital diaphragmatic hernia, but the neonate died from hernia complications. Case 3 involved a single ETI dose before preterm birth at 28 weeks; the infant had severe MI and died from neurological complications. In case 4, ETI at 35 weeks briefly improved bowel status; delivery at 37 weeks was required for progressive distension, followed by MI surgery with full recovery. Maternal therapy was well tolerated.</p><p><strong>Conclusions: </strong>Prenatal ETI may improve fetal bowel abnormalities and reduce MI risk, particularly with early, sustained exposure. Imaging effectively monitored response. Further studies are required to define optimal timing, protocols, and long-term safety.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873155","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}
引用次数: 0
Transplacental Sirolimus Therapy for Severe Fetal Cardiac Rhabdomyomas in Tuberous Sclerosis Complex: Organ-Specific Responses and 30-Month Follow-Up: A Case Report. 经胎盘西罗莫司治疗结节性硬化症合并严重胎儿心脏横纹肌瘤:器官特异性反应和30个月随访:1例报告。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-01 DOI: 10.1159/fdt/acuag007
Kana Naito, Yoshinori Moriyama, Yuri Kawai, Kazuyoshi Saito, Hazuki Nakajima, Masamitsu Nakamura, Takao Sekiya, Naoko Ishihara, Masafumi Miyata, Tetsushi Yoshikawa, Haruki Nishizawa
{"title":"Transplacental Sirolimus Therapy for Severe Fetal Cardiac Rhabdomyomas in Tuberous Sclerosis Complex: Organ-Specific Responses and 30-Month Follow-Up: A Case Report.","authors":"Kana Naito, Yoshinori Moriyama, Yuri Kawai, Kazuyoshi Saito, Hazuki Nakajima, Masamitsu Nakamura, Takao Sekiya, Naoko Ishihara, Masafumi Miyata, Tetsushi Yoshikawa, Haruki Nishizawa","doi":"10.1159/fdt/acuag007","DOIUrl":"10.1159/fdt/acuag007","url":null,"abstract":"<p><strong>Introduction: </strong>Transplacental mammalian target of rapamycin (mTOR) inhibition has emerged as a promising therapeutic strategy for severe fetal cardiac rhabdomyomas in tuberous sclerosis complex (TSC). However, its impact on neonatal cardiovascular adaptation and long-term neurological outcomes remains poorly understood.</p><p><strong>Case presentation: </strong>We report a fetus with clinically diagnosed TSC presenting with multiple large cardiac rhabdomyomas causing progressive hemodynamic compromise. Transplacental sirolimus therapy was initiated at 30 weeks of gestation and continued for 7 weeks, resulting in marked regression of cardiac tumors, improved left ventricular outflow tract patency, and recovery of fetal cardiac function. In contrast, serial fetal imaging demonstrated no apparent change in the size or number of intracranial lesions. Elective cesarean delivery was performed at 38 weeks of gestation. Despite favorable prenatal structural improvement, the neonate developed severe left ventricular dysfunction immediately after birth, requiring ductal-dependent circulatory support and intensive cardiovascular management. Postnatal everolimus therapy was initiated on the day of birth, leading to complete regression of cardiac rhabdomyomas by 5 months of age. However, central nervous system lesions persisted, epilepsy developed during infancy, and cognitive and language delays remained evident at 30 months of follow-up. Wolff-Parkinson-White syndrome was also identified during infancy. Genetic analysis ultimately revealed a heterozygous deletion involving exons 11-16 of TSC2.</p><p><strong>Conclusion: </strong>This case demonstrates organ- and tissue-specific therapeutic responses to prenatal and postnatal mTOR inhibition in TSC. Although transplacental mTOR inhibition may be lifesaving for severe fetal cardiac involvement, prenatal structural improvement may not necessarily predict neonatal cardiovascular stability or favorable long-term neurological outcomes. These findings underscore the importance of careful perinatal planning, realistic prenatal counseling, and extended multidisciplinary follow-up.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873323","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}
引用次数: 0
Maternal Plasma Placental Growth Factor Change Patterns and Adverse Perinatal Outcomes: A Retrospective Cohort Study. 母体血浆胎盘生长因子(PlGF)变化模式和不良围产期结局:一项回顾性队列研究。
IF 1.7 3区 医学
Fetal Diagnosis and Therapy Pub Date : 2026-09-01 DOI: 10.1159/fdt/acuag008
Yingying Lu, Sicong Li, Tingting Jin, Ping Wang, Qiaoqiao Chen, Jingjing Chen
{"title":"Maternal Plasma Placental Growth Factor Change Patterns and Adverse Perinatal Outcomes: A Retrospective Cohort Study.","authors":"Yingying Lu, Sicong Li, Tingting Jin, Ping Wang, Qiaoqiao Chen, Jingjing Chen","doi":"10.1159/fdt/acuag008","DOIUrl":"10.1159/fdt/acuag008","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to identify distinct longitudinal change patterns of maternal placental growth factor (PlGF) across pregnancy and evaluate their independent associations with adverse perinatal outcomes.</p><p><strong>Methods: </strong>In this retrospective cohort study, 229 women with singleton pregnancies complicated by preeclampsia and complete PlGF measurements in early (11+0-13+6 weeks), mid (20+0-24+6 weeks), and late (28+0-34+6 weeks) pregnancy were included. Latent class mixed models were used to identify distinct nonlinear trajectories of PlGF. Model selection was based on Bayesian Information Criterion. Stepwise multivariable logistic regression models were applied to assess associations between PlGF trajectory groups and adverse outcomes, including small-for-gestational-age (SGA), preterm delivery, and neonatal intensive care unit (NICU) admission.</p><p><strong>Results: </strong>Three distinct PlGF trajectories were identified in this study: (1) standard escalating trajectory (79.5%), (2) chronic low-slope growth (15.3%), and (3) late-term precipitous decline (5.2%). Absolute event counts were 15/182, 11/35, and 4/12 for SGA; 25/182, 5/35, and 9/12 for preterm delivery; 19/182, 5/35, and 8/12 for NICU admission in the standard escalating, chronic low-slope, and late-term decline groups, respectively. Compared with the standard trajectory, both abnormal patterns were significantly associated with increased odds of SGA, with adjusted odds ratios (aOR) of 6.54 (95% CI: 2.49-17.41) for chronic low-slope growth and 9.25 (95% CI: 2.03-40.13) for late-term decline. Late-term precipitous decline was strongly associated with preterm delivery (aOR: 32.37, 95% CI: 7.79-180.58) and NICU admission (aOR: 23.86, 95% CI: 6.09-112.02). Chronic low-slope growth was not significantly associated with preterm delivery or NICU admission.</p><p><strong>Conclusion: </strong>Distinct longitudinal patterns of maternal PlGF exist in pregnancy that provide important prognostic information beyond single time-point measurements. In particular, a late-term precipitous decline in PlGF identifies pregnancies at markedly elevated risk for preterm birth and neonatal morbidity.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873198","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}
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