Fetal Diagnosis and Therapy最新文献

{"title":"Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.","authors":"Gustavo Betin, Mariana Devia, Walter Annicchiarico, Patrizia Iannello, María Moreno, Natalia Maestre, Jezid Miranda","doi":"10.1159/000551269","DOIUrl":"10.1159/000551269","url":null,"abstract":"<p><strong>Introduction: </strong>Skeletal dysplasias are genetically heterogeneous disorders characterized by high diagnostic complexity and major perinatal impact. Under current diagnostic guidelines, chromosomal microarray remains the recommended first-tier test for fetal anomalies. However, in suspected skeletal dysplasias ‑ where sequencing provides a markedly higher diagnostic yield ‑ starting with chromosomal microarray testing may delay diagnosis. Recent advances in next-generation sequencing, along with the 2022 International Society of Skeletal Dysplasias classification, now allow for earlier and more precise evaluation. We present a case of life-limiting osteogenesis imperfecta diagnosed prenatally through exome sequencing (ES), highlighting its efficiency and diagnostic advantage over chromosomal microarray analysis.</p><p><strong>Case presentation: </strong>A 24-year-old primigravida was assessed during first trimester screening in Cartagena, Colombia. Ultrasound at 13 weeks revealed multiple fetal anomalies suggestive of skeletal dysplasia. Chorionic villus sampling was performed, and molecular analysis with ES identified a heterozygous substitution NM_000088.3:c.1291G>T (p.Gly431Cys) in COL1A1, located in the triple helix domain of type I collagen. This variant was absent from genomic databases and showed previously documented glycine substitutions, being classified as \"likely pathogenic.\" The patient opted for legal termination of pregnancy, and fetal histopathology confirmed osteogenesis imperfecta.</p><p><strong>Conclusion: </strong>This novel COL1A1 variant reinforces the role of glycine substitutions in osteogenesis imperfecta. While chromosomal microarray remains first-tier, ES offers a faster and more efficient pathway for diagnosing suspected skeletal dysplasias, enhancing early counseling in resource-limited settings.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"435-443"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147480145","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":"Foetoscopic Laser Management of Triplet Pregnancies Complicated by Twin-Twin Transfusion Syndrome.","authors":"Evangelia Vlachodimitropoulou, Sidika Naz Dagli, Grace Ng Yang Huang, Tim Van Mieghem, Johannes Keunen, Nimrah Abbasi, Homero Flores-Mendoza, Greg Ryan","doi":"10.1159/000551563","DOIUrl":"10.1159/000551563","url":null,"abstract":"<p><strong>Introduction: </strong>Twin-twin transfusion syndrome (TTTS) may complicate triplet pregnancies with a monochorionic component; however, data on foetoscopic laser ablation (FLA) in this setting remain limited. This study evaluated perinatal outcomes in TTTS-affected triplet pregnancies with at least one monochorionic placenta treated with FLA and compared these with monochorionic diamniotic (MC/DA) twin pregnancies.</p><p><strong>Methods: </strong>We retrospectively reviewed 42 triplet pregnancies complicated by TTTS treated with FLA. Of these, 25 were dichorionic triamniotic (DC/TA, 59.5%) and 17 were monochorionic triamniotic (MC/TA, 40.5%). Antenatal, procedural, and neonatal outcomes were compared with those of 1,072 MC/DA twin pregnancies treated with FLA at the same centre. Categorical and continuous variables were compared using the chi-square/Fisher's exact test and Mann-Whitney U test, respectively, with p < 0.05 considered statistically significant. Proportions are presented with 95% confidence intervals, and subgroup analyses were considered exploratory.</p><p><strong>Result: </strong>Quintero stage distribution did not differ significantly between cohorts, and gestational age (GA) at FLA was 20.3 weeks (IQR 18.7-22.3) in triplets and 20.4 weeks (IQR 18.4-23.1) in twins. Procedural complications in triplets were infrequent and did not differ significantly from twins. PPROM rates and laser time did not differ significantly. Survival of unaffected triplet was 88.1%. Among TTTS-affected pairs within triplets, dual neonatal survival was 61.9%, with at least one survivor in 85.7%. Dual survival was more frequent in MC/TA (70.6%) than in DC/TA (56.0%) triplets. Survival outcomes were not statistically different from those of MC/DA twins (dual: 70.1%, at least one 91.6%). The median GA at delivery was 31.8 weeks in triplets and 32.3 weeks in twins.</p><p><strong>Conclusions: </strong>Triplet pregnancies with TTTS treated with FLA showed no statistically significant differences in antenatal and neonatal outcomes to MC/DA twins, with high survival rates and low complication rates reported.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"473-482"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147473144","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":"Fetoscopic Observation of Intrauterine Operative Port Placements during Laparotomy-Assisted Fetal Myelomeningocele Closure.","authors":"Selena A Shirkin, Mariah N Snelson, Eric D McAlexander, Ayeeshi Poosarla, Gloria Kalnitskaya, Alice S Yu, Elizabeth Logsdon, Denise Wolfson, Jena L Miller, Mara Rosner, Michelle L Kush, Ahmet A Baschat","doi":"10.1159/000546666","DOIUrl":"10.1159/000546666","url":null,"abstract":"<p><strong>Introduction: </strong>Amniotic membrane disruption during laparotomy-assisted fetoscopic myelomeningocele closure port insertion is a precursor to iatrogenic preterm prelabor rupture of membranes (iPPROM), the primary contributor to obstetric complications. We hypothesized that visualization of port insertion from the intrauterine perspective could offer insight into mechanisms affecting chorioamniotic integrity.</p><p><strong>Methods: </strong>Fetoscopically video-recorded uterine port insertions during myelomeningocele closure were independently reviewed by six observers for suture placement, associated chorioamniotic separation of the membrane (referred to as tenting), and bleeding at port insertion. Findings were analyzed for interobserver agreement and related to iPPROM and gestational age at delivery.</p><p><strong>Results: </strong>In 23 surgical videos, average interobserver agreement was 78% for membrane tenting, myometrial bleeding, visible debris on the port, and the number of suture placements as distinct mechanical factors. Tenting occurred at 30.4% of suture and 30.4% of trocar insertions. Port step occurred in 100.0% of insertions, and port debris occurred in 60.9% of insertions. Bleeding occurred in 8.7% of port, and 21.7% of suture insertions. Amniotic membrane plication used 2 stitches in 65.2% of cases. iPPROM occurred in 47.8% of cases. The average gestational age at the time of surgery was 24 weeks and 4 days and, at the time of delivery, was 35 weeks and 3 days.</p><p><strong>Conclusions: </strong>Fetoscopic port insertions produce identifiable chorioamniotic disruption without any specific precursors to membrane rupture. The number, rather than the type of membrane punctures, may be more relevant for iPPROM risk.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"188-195"},"PeriodicalIF":1.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144483739","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":"Preoperative Amniotic Fluid Interleukin-6 Levels as Predictors of Adverse Perinatal Outcomes following Fetal Laser Surgery for Monochorionic Twin Complications.","authors":"Petra Hanulikova, Lubomir Haslik, Ladislav Krofta, Anna Brandejsova, Alexandra Regendova, Daniela Vankova, Matus Halaj","doi":"10.1159/000549016","DOIUrl":"10.1159/000549016","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to assess whether levels of interleukin 6 (IL-6) in amniotic fluid (AF) can predict perinatal complications following fetal laser surgery in monochorionic twins with twin-to-twin transfusion syndrome (TTTS).</p><p><strong>Methods: </strong>We conducted a retrospective cohort study at the Fetal Medicine Center from 2013 to 2024, analyzing AF samples from 152 monochorionic twin pregnancies prior to surgery. Cutoff levels for IL-6 were set at 400 ng/L and 2,000 ng/L based on a 10% false-positive and -negative rate.</p><p><strong>Results: </strong>Among the 152 women who underwent laser surgery, significant associations were found between AF IL-6 levels and pregnancy duration in TTTS cases (p = 0.005); in cases complicated by selective growth restriction, no significant association was found (p = 0.584). Overall, 112 TTTS pregnancies were categorized into 3 groups according to IL-6 levels. The overall prevalence of short surgery-delivery interval (<14 days) was 11.6% (13/112), 1.9% in the low-risk group, and 21.4% in the high-risk group (OR 13.9, p = 0.028). The risk of preterm birth (≤28 weeks) was also higher in the high-risk group (50% vs. 9.6%, OR 9.4, p = 0.002), and adverse neonatal outcomes were more prevalent (63.6% vs. 20%, OR 7.0, p = 0.007).</p><p><strong>Conclusion: </strong>AF IL-6 levels are a reliable marker for predicting adverse perinatal outcomes after fetal laser surgery, showing a high negative predictive value.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"146-156"},"PeriodicalIF":1.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145336652","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":"Preeclampsia Prediction by Machine Learning in Twin Pregnancies.","authors":"Hamutal Meiri, Elisa Bevilacqua, Nadav Kugler, Tamar Michelson, Adi Sharabi-Nov, Ran Svirsky, Karl Oliver Kagan, Richard N Brown, Heidy Portillo Rodriguez, Anna Goncé, Mar Bennasar, Antoni Borrell, Julia Ponce, Annegret Geipel, Adeline Walter, Corinna Simonini, Brigitte Strizek, Tanja Lennartz, Armin Bauer, Eleonora Torcia, Federica Meli, Ron Maymon, Abraham Tsur, Kypros H Nicolaides, Yoram Louzon","doi":"10.1159/000549223","DOIUrl":"10.1159/000549223","url":null,"abstract":"<p><strong>Introduction: </strong>While machine learning models successfully predict preeclampsia in singleton pregnancies and aspirin prophylaxis prevents preterm preeclampsia, no parallel models exist for twin pregnancies. This study developed machine learning algorithms to predict preeclampsia in twins using maternal factors and biomarkers from all three trimesters.</p><p><strong>Methods: </strong>We prospectively enrolled 596 pregnant women with twin pregnancies at 11+0 to 13+6 weeks' gestation. Machine learning models assessed the efficacy of maternal factors and biomarkers for preeclampsia prediction across all trimesters. Screening performance was evaluated using area under the receiver operating characteristic (ROC) curves. Women with first-trimester risk >1/100 received aspirin treatment (150-160 mg/day) based on Fetal Medicine Foundation (FMF) twin-specific algorithms, while others received 80-100 mg/day or no treatment according to local guidelines.</p><p><strong>Results: </strong>Sixty-seven women (11.2%) developed preeclampsia, including 40 (6.7%) with preterm preeclampsia. Key first-trimester markers included maternal factors, mean arterial pressure, cell-free fetal DNA, placental growth factor, and blood group B. Second- and third-trimester predictors comprised placental growth factor, soluble fms-like tyrosine kinase-1, and mean arterial pressure. The optimal machine learning model incorporating all three trimesters achieved an area under the ROC curve of 0.97 with 91% detection rate at 10% false-positive rate.</p><p><strong>Conclusion: </strong>Despite aspirin treatment in 257 (43.1%) women, logistic regression showed no significant reduction in preeclampsia rates. These findings suggest that while multi-trimester biomarkers effectively predict preeclampsia in twins, the effect of aspirin prophylaxis in twin pregnancies has yet to be proven. An app to predict this score is available at: <ext-link ext-link-type=\"uri\" xlink:href=\"http://twin-pe.math.biu.ac.il\" xmlns:xlink=\"http://www.w3.org/1999/xlink\">twin-pe.math.biu.ac.il</ext-link> or by contact with the corresponding author.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"363-375"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145892316","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":"Nuclear Yes-Associated Protein Activation in an ex vivo Murine Lung Model of Fetal Tracheal Occlusion.","authors":"Anne M Sescleifer, Shelby R Sferra, Annalise B Penikis, Wenyu Yang, Juan C Biancotti, Latoya Stewart, Shaun M Kunisaki","doi":"10.1159/000551625","DOIUrl":"10.1159/000551625","url":null,"abstract":"<p><strong>Introduction: </strong>In this study, we aimed to investigate the expression of nuclear Yes-associated protein (nYAP), a molecule involved in mechanotransduction, during fetal lung development in a novel ex vivo mouse model of congenital diaphragmatic hernia (CDH) lung hypoplasia.</p><p><strong>Methods: </strong>Pregnant CD1 mice were gavaged nitrofen at E8.5 to induce CDH lung hypoplasia. At E16.5, fetal lungs were harvested and cultured ex vivo for 72 h with or without tracheal occlusion (hypo-TO and hypo, respectively). Age-matched normal fetal lung controls (norm-TO and norm) were evaluated in parallel. Whole lungs at E16.5 + 3 were analyzed for nYAP and markers of distal epithelial differentiation by immunohistochemistry and quantitative gene expression.</p><p><strong>Results: </strong>There was robust nYAP expression in norm-TO lungs. Analysis of the distal lung parenchyma in normal and hypoplastic lungs showed enhanced epithelial nYAP expression in the distal airways of both norm-TO and hypo-TO lungs relative to their respective controls. Hypo lungs had the lowest expression of nYAP among the groups. There was significantly increased expression of both Ctgf and Cyr61 in hypo-TO lungs compared to hypo lungs without tracheal occlusion (Ctgf: 1.57 ± 0.43 and 1.02 ± 0.23, p = 0.016; Cyr61: 1.60 ± 0.34 and 1.01 ± 0.17, p = 0.003).</p><p><strong>Conclusion: </strong>In this ex vivo model, tracheal occlusion upregulates nYAP in both control and hypoplastic lungs during the canalicular stage of development, suggesting a critical role of the mechanosensory response molecule in CDH lung hypoplasia.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"180-187"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13128295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147490977","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":"Folic Acid Supplementation in Spina Bifida Prophylaxis: Results from the Zurich Fetal Surgery Cohort.","authors":"Martina Hofmann, Julia Wawrla-Zepf, Ladina Rüegg, Nele Strübing, Martin Meuli, Ueli Moehrlen, Nicole Ochsenbein-Kölble, Ladina Vonzun","doi":"10.1159/000547609","DOIUrl":"10.1159/000547609","url":null,"abstract":"<p><p><p>Introduction: Since preconceptional folic acid (FA) supplementation is known to reduce the risk of fetal spina bifida (fSB), the aim of this study was to systematically analyze the FA supplementation in a cohort of women with fSB repair in affected and subsequent pregnancies.</p><p><strong>Methods: </strong>A total of 198 women, that underwent open fSB repair between 2010 and 2023, were compared in two groups (group 1 = correct FA and group 2 = incorrect FA preconceptionally) regarding maternal and fetal characteristics. Additionally, compliance to high dose FA supplementation in subsequent pregnancies was analyzed.</p><p><strong>Results: </strong>Sixty-five women (32.8%) had correct preconceptional FA supplementation (group 1), and 63 women (31.8%) had incorrect FA supplementation (group 2). The two groups did not significantly differ regarding maternal and fetal characteristics. Thirty-nine women had 48 subsequent pregnancies. FA was initiated prior to conception in 35 (72.9%) of these pregnancies, in 9 (18.7%) cases, FA supplementation was incorrect.</p><p><strong>Conclusion: </strong>This study focuses on better awareness of FA supplementation as correct FA supplementation was low in women with fSB and suboptimal in high-risk situations after fSB pregnancies. However, these results also show that 1/2 of fSB occurs despite correct FA intake; thus, further research is needed to better understand the complex, multifactorial causes of this debilitating condition. </p>.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"53-59"},"PeriodicalIF":1.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144948192","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":"Genetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis.","authors":"Patcharee Komvilaisak, Khunton Wichajarn, Chanoknun Jaruk, Ratana Komwilaisak, Nongnuch Sirachainan, Napat Laoaroon, Junya Jirapradittha, Pongsatorn Paopongsawan, Pakaphan Kiatchoosakun, Kunanya Suwannaying","doi":"10.1159/000548041","DOIUrl":"10.1159/000548041","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary pyropoikilocytosis (HPP) is a rare genetic disorder causing severe fetal anemia, often leading to hydrops fetalis. This study evaluates intrauterine blood transfusion (IUT) efficacy and associated genetic mutations in Northeastern Thai patients.</p><p><strong>Methods: </strong>Eight fetuses with hydrops fetalis were identified between 17 and 30+6 weeks' gestation, with initial hematocrit levels of 8.7-16.7%.</p><p><strong>Results: </strong>IUTs were performed at 20-36 weeks, guided by fetal hematocrit, middle cerebral artery peak systolic velocity, and fetal hemodynamic status. Five cases progressed uneventfully following IUTs, although three resulted in premature delivery. Four cases reached term, with two infants born at normal weight and two at low birth weight. Among premature cases, three had birth weights below the 10th percentile for gestational age, and one had normal weight. Five patients remain transfusion dependent. Genetic analysis revealed homozygous spectrin Providence in 4 patients, homozygous spectrin Buffalo in 1, compound heterozygous spectrin Providence/Buffalo in 2, and spectrin Providence with SPTB c.6171_6182delinsACCCCAGCT (novel) in 1. Three cases developed severe complications, including severe birth asphyxia, persistent pulmonary hypertension, and multiple organ failure, leading to death.</p><p><strong>Conclusions: </strong>This study identified SPTB gene mutations associated with HPP. Early detection of hydrops fetalis caused by severe anemia, along with confirmation of the underlying genetic mutation, is essential for timely and effective clinical intervention. Intrauterine transfusion remains a viable therapeutic option to sustain pregnancy and enhance fetal survival. Further research is needed to refine the management strategies for HPP-associated hydrops fetalis and to improve perinatal outcomes.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"69-77"},"PeriodicalIF":1.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144948247","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":"Outcome of Prenatally Diagnosed Fetal Liver Lesions: Implications for Prenatal Management.","authors":"Nicolas Vinit, Desiree Fiorentino, Minh-Huy Le Huynh, Beverly G Coleman, Alan W Flake, Christina Bales, Julianna S Gebb, Shelly Soni, Nahla Khalek, Emily A Partridge","doi":"10.1159/000549826","DOIUrl":"10.1159/000549826","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to evaluate the diagnostic yield of prenatal imaging for fetal liver lesions and to characterize associated postnatal outcomes.</p><p><strong>Methods: </strong>We conducted a single-center retrospective review of prenatally diagnosed liver lesions between 2013 and 2023. Data collected included prenatal imaging findings, postnatal diagnoses, neonatal outcomes, and management strategies.</p><p><strong>Results: </strong>Thirty women were referred at a median gestational age (GA) of 31.1 weeks [IQR: 27.5-33.4]. Lesions were classified as cystic (53%), solid (20%), mixed (17%), or vascular (10%). Postnatal diagnoses included hemangioma (33%), hepatic cyst (27%), choledochal cyst (10%), arteriovenous malformation or portosystemic shunt (13%), mesenchymal hamartoma (7%), biliary atresia (3%), focal nodular hyperplasia (3%), and unknown (6%). Overall diagnostic concordance between prenatal and postnatal findings was 69%. Fetal complications occurred in 40% of cases, most commonly cardiac overload (n = 8), intrauterine growth restriction (n = 3), and mass effect (n = 2). Hypervascularized lesions were significantly associated with fetal compromise (p < 0.001). No cases of intrauterine fetal demise were observed. Fetal MRI was performed in 70% of cases and improved diagnostic accuracy in two cases. Median GA at delivery was 38.0 weeks [IQR: 36.6-39.1]. Postnatal management included expectant observation (67%), surgery (20%), β-blockers (7%), and embolization (3%). After a median follow-up of 32.5 months [IQR: 14.8-60.9], 38% of lesions had regressed spontaneously. One infant died from complications following embolization.</p><p><strong>Conclusion: </strong>Most fetal liver lesions are associated with favorable outcomes. However, hypervascularized lesions are predictive of in utero complications and warrant close monitoring. Fetal MRI may improve diagnostic accuracy and guide postnatal management.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"339-351"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003491","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":"Letter to the Editor Regarding the Article \"Fetal Dilated Jugular Lymphatic Sacs on First Trimester Ultrasound and Their Implications in Antenatal Screening\".","authors":"Erdal Şeker","doi":"10.1159/000549136","DOIUrl":"10.1159/000549136","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"315-316"},"PeriodicalIF":1.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145344526","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}