Fetal Diagnosis and Therapy最新文献

{"title":"Posterior Atlanto-Occipital Membrane Bulging Preceding Hindbrain Herniation in Open Spinal Dysraphism: A Case Report.","authors":"Ivonne Bedei, Gregor Kasprian, Siegmund Köhler, Benjamin Sass, Roland Axt-Fliedner, Maximilian Schulze, Corinna Keil","doi":"10.1159/fdt/acuag011","DOIUrl":"10.1159/fdt/acuag011","url":null,"abstract":"<p><strong>Introduction: </strong>Hindbrain herniation (HBH) is a feature of Chiari II malformation in fetuses with open spinal dysraphism (OSD) and constitutes an eligibility criterion for prenatal repair in many fetal surgery protocols. Bulging of the posterior atlanto-occipital membrane (PAOM) is frequently observed in association with vermian descent; however, its significance in the absence of HBH remains unclear.</p><p><strong>Case presentation: </strong>We report two fetuses with OSD who initially showed no HBH on fetal MRI but presented with isolated CSF-filled PAOM bulging. In both cases, repeat MRI within 2 weeks demonstrated interval development of HBH to C1, thereby fulfilling criteria for prenatal repair. Case 1 presented at 22.3 weeks with L4 myelomeningocele, mild ventriculomegaly and preserved motor function. Prenatal repair was performed at 26.0 weeks. Case 2 presented at 20.3 weeks with L5 myelomeningocele, normal ventricles, and intact motor function. Prenatal repair was performed at 25.3 weeks. In both fetuses, postoperative MRI demonstrated reversal of HBH, whereas PAOM bulging persisted.</p><p><strong>Conclusion: </strong>PAOM bulging may be associated with the subsequent development of HBH, but this observation requires confirmation in larger longitudinal cohorts. In fetuses with OSD and absent HBH at initial assessment, the presence of PAOM bulging may warrant consideration of short-interval follow-up MRI while prenatal repair remains an option.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826622","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":"Treatment Outcomes after Fetoscopic Laser Ablation of Type II versus Type III Vasa Previa.","authors":"Adriana S Mockler, Randy S Mohtar, Arlyn S Llanes, Lisa M Korst, Alireza A Shamshirsaz, Ramen H Chmait","doi":"10.1159/fdt/acuag002","DOIUrl":"10.1159/fdt/acuag002","url":null,"abstract":"<p><strong>Introduction: </strong>Perinatal outcomes were compared for patients treated with fetoscopic laser ablation for vasa previa (VP) type II versus III. In type II VP, fetal vessels connect the main placenta to an accessory lobe, and in type III, these vessels exit and reenter a single-lobed placenta without velamentous cord insertion. Vessel ablation can be challenging in the presence of an accessory placental lobe.</p><p><strong>Methods: </strong>This was a retrospective cohort study (2013-2025) of women with singleton pregnancies ≥31 gestational weeks who underwent laser ablation treatment for VP type II vs. III.</p><p><strong>Results: </strong>Of 32 study patients, 14 (43.8%) had type II and 18 (56.2%) had type III VP. All patients had successful VP occlusion (1 required a second attempt) and were managed as outpatients. Perinatal outcomes were similar for VP types. All neonates were liveborn and survived at least 30 days; 2 required hyperbilirubinemia treatment and 3 had respiratory distress syndrome. There were no cases of intraventricular hemorrhage, patent ductus arteriosus, neonatal blood transfusion, or sepsis.</p><p><strong>Conclusion: </strong>For 32 VP patients treated with fetoscopic laser ablation, perinatal outcomes for types II and III VP were favorable and did not differ by VP type.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148701060","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 Sonographic Features of Alagille Syndrome: A Single-Center Experience.","authors":"Qiu-Xia Yu, Si-Yun Li, Gui-Lan Chen, Jia-Chun Guo, Dong-Zhi Li, Li Zhen","doi":"10.1159/fdt/acuag004","DOIUrl":"10.1159/fdt/acuag004","url":null,"abstract":"<p><strong>Introduction: </strong>Alagille syndrome (ALGS) is a rare autosomal dominant multisystem condition. This study focuses on the prenatal sonographic findings observed in cases confirmed to have ALGS through the molecular detection of JAG1 variants, either prenatally or postnatally.</p><p><strong>Methods: </strong>This retrospective study enrolled 13 cases of ALGS, diagnosed either prenatally or postnatally. Comprehensive medical records were systematically reviewed, with emphasis on pregnancy-related data, including serial fetal ultrasound examinations throughout gestation, molecular genetic test results, and pregnancy outcomes.</p><p><strong>Results: </strong>Among the 13 cases, 10 demonstrated abnormal sonographic findings during the second trimester: unilateral multicystic dysplastic kidney (MCDK) in two (2/13), left MCDK with concomitant right renal agenesis in one (1/13), left MCDK associated with butterfly vertebrae in one (1/13), isolated butterfly vertebrae in three (3/13), non-visualized gallbladder in two (2/13), and supravalvar aortic stenosis with persistent left superior vena cava in one (1/13). The remaining three cases exhibited normal second-trimester ultrasound examinations but developed abnormal sonographic features in the third trimester: intrauterine growth restriction (IUGR) was identified in two cases (2/13), and one case showed co-occurring pulmonary artery stenosis and butterfly vertebrae (1/13).</p><p><strong>Conclusion: </strong>This study demonstrates that individuals with ALGS lack definitive prenatal ultrasound markers. When abnormalities are present, they are often subtle and nonspecific, which may not prompt clinicians to pursue genetic testing.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668811","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":"Maternal HLA Allosensitisation: The Silent Risk of in utero Cellular Therapy for Myelomeningocele.","authors":"Koichiro Yuji, Wakako Yuji","doi":"10.1159/fdt/acuag005","DOIUrl":"10.1159/fdt/acuag005","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668739","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":"Perinatal Mood and Anxiety in Women Undergoing Open Maternal-Fetal Surgery for Myelomeningocele Closure.","authors":"Alexandria Budney, Juliana S Gebb, Shelly Soni, Nahla Khalek, Julie S Moldenhauer, Joanna C M Cole, Gregory G Heuer, N Scott Adzick, Christina Paidas Teefey","doi":"10.1159/000552713","DOIUrl":"10.1159/000552713","url":null,"abstract":"<p><strong>Introduction: </strong>Pregnant people carrying fetuses with congenital anomalies are at increased risk for perinatal mood and anxiety disorders (PMADs). Limited data exist regarding the impact of maternal-fetal surgery on maternal mental health. This study aimed to evaluate PMAD symptoms in pregnant people who opted for open maternal-fetal surgery (OMFS) for spina bifida (fMMC) closure.</p><p><strong>Methods: </strong>This was a retrospective cohort study of patients who underwent OMFS for fMMC closure at a level III fetal center. The Postpartum Depression Screening Scale (PDSS) and Impact of Event Scale-Revised (IES-R) were administered at initial evaluation and 1 day post-birth. Demographics, perioperative factors, surgical and delivery outcomes, and type of psychosocial support interactions were collected.</p><p><strong>Results: </strong>Of 171 pregnant people who underwent OMFS, 91 (50.8%) screened positive for depressive symptoms and 27 (15.1%) for anxiety/traumatic stress at the initial evaluation, prior to OMFS. After delivery, 45 (25.1%) screened positive for depressive symptoms and 2 (0.01%) for anxiety/traumatic stress symptoms. There was a statistically significant decrease in positive screen rates in the postpartum period for depressive and anxiety/traumatic stress (p < 0.001).</p><p><strong>Conclusions: </strong>Women undergoing OMFS for fMMC closure are at a high risk for PMAD symptoms in the perinatal period. Routine mental health screening in pregnancy and integrated psychosocial support are essential in caring for this unique population.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13619127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668764","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":"Posterior Fossa Anomalies: A Detailed Review of Prenatal Findings and Management from a Tertiary Care Center.","authors":"Tanisha Gupta, K Aparna Sharma, Vatsla Dadhwal, Anubhuti Rana, Neerja Gupta, Madhulika Kabra, Rashmi Shukla, Saloni Kamboj, Smita Manchanda","doi":"10.1159/000553530","DOIUrl":"10.1159/000553530","url":null,"abstract":"<p><strong>Introduction: </strong>Posterior fossa anomalies (PFAs) encompass a spectrum of central nervous system malformations affecting the cerebellum, brainstem, and surrounding cerebrospinal fluid spaces. This study evaluates the prenatal diagnosis, genetic findings, and pregnancy outcomes of PFAs in a tertiary care setting in India.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 35 cases of PFAs diagnosed via prenatal ultrasound and fetal MRI between January 2023 and May 2024. Anomalies were classified based on standard criteria, and genetic testing (karyotype, chromosomal microarray analysis, and whole-exome sequencing) was offered. Pregnancy outcomes, including termination, live birth, and neonatal survival, were documented, with short-term neurodevelopmental follow-up conducted via telephonic inquiries.</p><p><strong>Results: </strong>The most common PFAs identified were vermian agenesis/hypoplasia (VH) and cerebellar hypoplasia, each accounting for 25.71% of cases, followed by Dandy-Walker malformation (20%). Isolated PFAs were observed in 37.14% of cases, while 62.85% had additional anomalies. Genetic testing was performed in 74.2% of cases, revealing variants in 5.71%. Karyotyping was performed in all tested cases and yielded normal results, while additional molecular testing with chromosomal microarray analysis (5 cases) and whole-exome sequencing (3 cases) detected clinically relevant variants in selected fetuses with PFAs. Among the 35 pregnancies, 65.71% opted for termination, facilitated by the Medical Termination of Pregnancy (MTP) Act, particularly for cases diagnosed beyond 24 weeks of gestation. Of the 9 live births, 2 neonates with VH (5.71%) died within 1 month, while 6 (17.14%) had normal developmental milestones at 6 months including 6 babies with mega cisterna magna and one with an arachnoid cyst. One infant exhibited delayed milestones.</p><p><strong>Conclusion: </strong>PFAs are present with diverse prognostic implications, necessitating detailed imaging, genetic evaluation, and individualized counseling. The MTP Amendment Act played a crucial role in providing extended access to termination in pregnancies with severe PFAs and poor prognoses.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148648536","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":"Association of Maximum CPAM Volume Ratio in Postnatal Surgical Outcomes in Congenital Lung Malformations.","authors":"Stephen J Fenton, Andreina Giron, April A Carlson, Shelby Daughetee, Katie W Russell, Martha A Monson, Anne M Kennedy, Paula J Woodward, Janice L B Byrne, John Schomberg, Peter T Yu","doi":"10.1159/000552629","DOIUrl":"10.1159/000552629","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital lung malformations (CLMs) range from asymptomatic to those causing significant neonatal morbidity. The maximum CPAM volume ratio (mCVR) is an established prenatal risk stratification tool, but its postnatal predictive value remains less defined. This study aimed to evaluate the relationship between mCVR and postnatal clinical outcomes.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of neonates with prenatally diagnosed CLM who underwent resection at 2 fetal centers (2013-2023). Patients were stratified into 3 groups based on mCVR: <1, 1-2, and >2. Descriptive statistics, Kruskal-Wallis, and Chi-squared tests compared demographic, clinical, and outcome variables across groups.</p><p><strong>Results: </strong>Among 129 neonates with reported mCVR who underwent postnatal resection, median mCVR was 0.8. Neonates with mCVR >2 were significantly more likely to require in-center delivery (95.4% vs. 84.3% vs. 48%, p < 0.001), present with symptoms at birth (86.3% vs. 28.1% vs. 20%, p < 0.001), and require NICU admission (68% vs. 31% vs. 17%, p < 0.001). They also underwent earlier surgery, had longer hospital stays, more thoracotomies, and higher complication rates (all p < 0.001).</p><p><strong>Conclusion: </strong>mCVR >2 is a meaningful predictor of neonatal morbidity and can serve as a valuable tool for prenatal counseling and delivery planning.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148619023","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":"Myofibroblasts Accumulate at the Rupture Site in Preterm Amniotic Membrane after Spontaneous Preterm Premature Rupture of the Fetal Membrane.","authors":"Eleni Costa, Chris Thrasivoulou, David L Becker, Jan Deprest, Anna L David, Tina T Chowdhury","doi":"10.1159/fdt/acuag001","DOIUrl":"10.1159/fdt/acuag001","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal membranes do not spontaneously heal after trauma, fetal surgery, fetoscopy, or amniocentesis leaving a visible tissue defect which is prone to rupture, leading to preterm premature rupture of the fetal membrane (PPROM). We examined the morphological features of myofibroblasts and collagen organization at the amniotic membrane (AM) rupture site after spontaneous PPROM and whether myofibroblasts regulate Cx43 expression.</p><p><strong>Methods: </strong>Myofibroblast morphology and collagen microstructure were investigated by confocal microscopy and second harmonic generation imaging of AM specimens from three women who spontaneously ruptured the membranes preterm. AM specimens were dissected near the rupture site and immunostained to detect α smooth muscle actin (αSMA) and Cx43 in myofibroblasts and counterstained with DAPI to quantify nuclei shape. The direction of collagen fibrils in the fibroblast layer at the ruptured region were examined by SHG imaging.</p><p><strong>Results: </strong>In ruptured AM, the diameter of the rupture site ranged from approximately 1.5 cm-4.0 cm. At the edge of the rupture site, αSMA positive myofibroblasts had deformed nuclei and showed abundant Cx43 localized in the cytoplasm or had formed plaques between cell-to-cell contacts. In the fibroblast layer, collagen had degenerated in some regions of the fibroblast layer or had polarity near the edge of the rupture site.</p><p><strong>Conclusion: </strong>In ruptured membranes, contractile myofibroblasts were deformed with collagen fibrils that have polarity. Whilst contractile myofibroblasts expressed intracellular Cx43, cells also formed bulbous regions near the epithelial edge of the rupture site, indicating re-epithelialization and attempted healing. It is unclear how myofibroblasts promote healing mechanisms at the site of rupture for cell migration, integrity and repair pathways.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148618965","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":"The Impact of an Additional Targeted Ultrasound Scan in Pregnant Women with Elevated Alpha-Fetoprotein.","authors":"Maoz Shalev Shahar, Tirosh Dan, Benshalom-Tirosh Neta, Zerem Matan, Hershkovitz Reli, Baron Joel","doi":"10.1159/fdt/acuag003","DOIUrl":"10.1159/fdt/acuag003","url":null,"abstract":"<p><strong>Introduction: </strong>Elevated maternal serum alpha-fetoprotein (AFP) levels have been linked to various fetal anomalies. Therefore, routine anatomy scans are supplemented with targeted ultrasound scans to detect such anomalies. This study was conducted to assess the added value of an additional targeted ultrasound scan to the routine fetal anatomy scans in pregnant women with elevated AFP levels.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted at a tertiary university medical center. Pregnant women with elevated AFP levels in the second trimester, who have previously undergone routine fetal anatomy scans, were included. The study assessed whether targeted scans provided significant additional diagnostic information.</p><p><strong>Results: </strong>The study included 151 women, with a median maternal age of 30 years. All women underwent an additional targeted scan due to elevated AFP levels. Eighty percent had a normal targeted scan, nine targeted scans (6%) showed findings not associated with AFP, not previously diagnosed, and 1 patient had a new finding associated with elevated AFP (chorioangioma).</p><p><strong>Conclusion: </strong>This study suggests that additional targeted ultrasound scans in cases of second-trimester elevated AFP may have limited added value in women who have previously normal routine anatomy scans. Therefore, an additional targeted scan for this diagnosis may be considered for selected cases and not routinely advised. However, findings unrelated to elevated AFP were observed, supporting the trend toward an additional third-trimester routine anatomy scan.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148600889","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":"Spontaneous Regression of Fetal Torcular Sinus Thrombosis: A Case Report.","authors":"Anita Romiti, Francesca Turchiano, Simonetta Costa, Marta Bisanti, Riccardo Tudisco, Dario Tancredi, Chiara Pizzolante, Valentina Polsinelli, Amelia Spanò, Matia Martucci, Giovanni Vento, Tullio Ghi","doi":"10.1159/000552096","DOIUrl":"10.1159/000552096","url":null,"abstract":"<p><strong>Introduction: </strong>We report a rare case of fetal dural sinus thrombosis managed conservatively, resulting in a favorable neonatal outcome.</p><p><strong>Case presentation: </strong>At 21 weeks' gestation, fetal ultrasound revealed an oval-shaped lesion in the occipito-parietal sulci of the right cerebral hemisphere, suspicious for sinus thrombosis. Torcular dural sinus malformations are rare vascular defects. They can occur during prenatal development and may lead to sinus thrombosis and poor prognosis. Mortality is reported to be around 22%, and survivors frequently present relics including motor and cognitive deficits, with a substantial reduction in postnatal quality of life. In this case report, we will follow the clinical evolution throughout pregnancy and the postnatal outcome.</p><p><strong>Conclusion: </strong>Partial or complete resolution of cerebral ultrasound abnormalities, combined with the absence of associated anomalies or fetal compromise, including cardiac failure, appear to predict a favorable outcome.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148548267","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}