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":"https://doi.org/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, highlighting its efficiency and diagnostic advantage over chromosomal microarray analysis.</p><p><strong>Case report: </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 Exome Sequencing 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>Conclusions: </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":"1-14"},"PeriodicalIF":1.6,"publicationDate":"2026-03-18","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":"Fetoscopic 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":"https://doi.org/10.1159/000551563","url":null,"abstract":"<p><p>Introduction Twin-twin transfusion syndrome (TTTS) may complicate triplet pregnancies with a monochorionic component; however, data on fetoscopic 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. Methods 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 1072 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. Results 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. Conclusions 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":"1-17"},"PeriodicalIF":1.6,"publicationDate":"2026-03-17","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":"From Gastrulation to Malformation: Understanding the Embryology of Split Cord Malformations for Obstetric Practice.","authors":"Nazli Albayrak, Cameron Alexander Nejat","doi":"10.1159/000551588","DOIUrl":"https://doi.org/10.1159/000551588","url":null,"abstract":"<p><p>Split cord malformation (SCM) is an uncommon congenital anomaly of the spinal cord in which the neural tube is longitudinally divided into two hemicords, separated by a fibrous, cartilaginous, or osseous septum. Historically described as diastematomyelia or diplomyelia, the current unified classification proposed by Pang et.al distinguishes two main subtypes: type I, characterized by two hemicords within separate dural sacs separated by a rigid spur, and type II, in which hemicords share a single dural sac and are separated by a fibrous band. Composite SCM, with multiple non-contiguous lesions, is exceedingly rare. Although SCM is most often recognized in childhood following neurological symptoms or cutaneous stigmata, advances in fetal ultrasonography and magnetic resonance imaging (MRI) now permit prenatal diagnosis. This shift carries significant implications for obstetric counseling, delivery planning, and multidisciplinary coordination of perinatal care. While surgical correction in infancy remains the mainstay of treatment, the increasing ability to detect SCM in utero has prompted discussion of fetal therapy. Unlike open spina bifida, however, SCM is primarily a tethering disorder rather than a defect of neural tube closure, and no evidence currently supports fetal intervention. This review summarizes embryology, classification, epidemiology, clinical features, diagnostic strategies, and management of SCM, with special emphasis on prenatal imaging, obstetric considerations, and future prospects for fetal therapy.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-14"},"PeriodicalIF":1.6,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147473104","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":"Fetal Intervention for Giant Chorangioma with Prenatal Ductus Arteriosus Closure: A Case Report.","authors":"Felicia V Lemoine, Natalie Neff, Sami Backley, Salima A Bhimani, Angela Bianco, Joanne Stone, Russell Miller, Anthony Johnson, Jimmy Espinoza, Rodrick C Zvavanjanja, Ramesha Papanna","doi":"10.1159/000551096","DOIUrl":"10.1159/000551096","url":null,"abstract":"<p><strong>Introduction: </strong>We present a case of spontaneous premature ductus arteriosus (DA) closure following modified interstitial laser ablation (ILA) of a giant chorangioma (GC) in a fetus with evidence of hydrops.</p><p><strong>Case presentation: </strong>A 26-week ultrasound revealed a 10-cm GC in the posteriorly located placenta with signs of fetal hydrops, polyhydramnios, and elevated middle cerebral artery peak systolic velocity (MCA PSV) of 1.9 MoM. Preoperative fetal echocardiogram showed elevated combined cardiac output (753 mL/kg/min) without structural abnormalities. Modified ILA targeting the branches of the feeder artery with an extended-pulse technique (30 s at 40 Watts) followed by intrauterine fetal transfusion was performed without complications. On postoperative day (POD) 1, new onset of ductus venosus flow reversal was noted, which was attributed to post-procedural hemodynamics. Fetal echocardiography on POD 5 suggested constriction of DA; follow-up confirmed complete DA closure and secondary right heart dysfunction. The pregnancy was managed expectantly with at least weekly echocardiograms. Digoxin and hyperoxygenation for fetal heart failure did not change DA caliber. Acetaminophen and fluoxetine were discontinued without improvement. After an uncomplicated term cesarean delivery (indication: breech), the female neonate was discharged home on day of life 3. Currently, the child is 6 months old and healthy.</p><p><strong>Conclusion: </strong>Modified ILA for GC followed by expectant management of associated DA closure yielded a term delivery with a favorable outcome.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147364531","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":"Early Childhood Outcomes in Severe Congenital Diaphragmatic Hernia Treated with Fetoscopic Endoluminal Tracheal Occlusion (FETO) versus Non-FETO at a Single Center.","authors":"Sierra Land, Sabrina Flohr, Leny Mathew, Annaliese Aarthun, Anne M Ades, Beverly G Coleman, Juliana S Gebb, Lisa Herkert, Casey Hoffman, Julie S Moldenhauer, Edward R Oliver, Howard B Panitch, Emily Anne Partridge, William H Peranteau, Thomas A Reynolds, Natalie E Rintoul, K Taylor Wild, Holly L Hedrick","doi":"10.1159/000550767","DOIUrl":"10.1159/000550767","url":null,"abstract":"<p><strong>Introduction: </strong>Fetoscopic endoluminal tracheal occlusion (FETO) has demonstrated neonatal survival and pulmonary hypertension (PH) benefits in patients with severe congenital diaphragmatic hernia (CDH). This study describes early childhood outcomes of patients treated with FETO compared to a contemporary cohort of non-FETO patients.</p><p><strong>Methods: </strong>A single center, retrospective cohort study evaluated patients with a prenatal diagnosis of isolated severe left CDH at a single center from September 2016 through January 2023. Severe CDH was defined as liver herniation with an ultrasound observed/expected lung-to-head ratio <30%. Outcomes were assessed by specialists within a multidisciplinary follow-up clinic and are reported as descriptive statistics.</p><p><strong>Results: </strong>Twelve patients underwent FETO and 35 did not (non-FETO). Ninety-one percent of FETO and 75% of non-FETO patients survived to 24 months of age. Among surviving patients, 100% of FETO and 72% of non-FETO patients had a 24-month clinic follow-up assessment. At that time, 45% of FETO patients and 33% of non-FETO patients were feeding exclusively by mouth. Nine percent of FETO and 22% of non-FETO patients required respiratory support. No FETO patients required PH medications, while 22% of non-FETO patients required PH medications. Eighty-three percent and 57% of surviving FETO and non-FETO patients, respectively, had at least one neurodevelopment assessment during the 6-, 12-, or 24-month time points. Despite higher frequency of prematurity among FETO patients, similar neurodevelopmental scores were observed in both groups.</p><p><strong>Conclusions: </strong>FETO patients received PH medications less frequently and had similar outcomes in feeding, respiratory management, and neurodevelopment as non-FETO patients.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-12"},"PeriodicalIF":1.6,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147321543","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":"Intrafetal Fluid Effusions and Pulmonary Growth after Pleuroamniotic Shunt in Fetuses with Severe Hydrothorax.","authors":"Fredal Sánchez-Martínez, Andrea Peláez-Jiménez, Ramiro Rojas-Pillaca, Rosa Villalobos-Gómez, Saulo Molina-Giraldo, Rogelio Cruz-Martínez","doi":"10.1159/000551305","DOIUrl":"10.1159/000551305","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to assess the longitudinal intrathoracic changes after pleuroamniotic shunting (PAS) in fetuses with massive unilateral or bilateral hydrothorax.</p><p><strong>Methods: </strong>The presence of intrafetal fluid effusions and the observed/expected lung-to-head ratio (O/E-LHR) of both lungs were weekly evaluated in a cohort of fetuses with severe hydrothorax treated PAS in a single reference center in Mexico. Severe fetal hydrothorax was diagnosed as an accumulation of fluid within the fetal pleural space accompanied with severe bilateral lung compression, mediastinal shift, polyhydramnios, and/or hydrops. The longitudinal changes in intrafetal fluid effusions, and pulmonary growth were analyzed by survival and multilevel analysis against weeks after fetal intervention.</p><p><strong>Results: </strong>Fifty-six pregnancies with severe fetal hydrothorax were treated with PAS at a median gestational age of 30.1 (range, 20.8-36.1) weeks. After shunting, all cases were longitudinally analyzed and in whom a total of 332 scans were performed (median 6, range 2-16). A complete disappearance of hydrops and hydrothorax was observed at a median interval of 1.6 and 5.9 weeks after PAS, respectively. A progressive increase in lung growth was observed, becoming normal O/E-LHR at on average 7.0 weeks after PAS.</p><p><strong>Conclusion: </strong>Fetal PAS promotes disappearance of all fetal fluid effusions and a normalization of the pulmonary growth after fetal intervention.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.6,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316750","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":"Hemoglobin Bart's Disease and the Agrinio Mutation: A Case Report of Successful Fetal Intervention.","authors":"Kobe Haenen, Emma Van den Eede, Jeroen Breckpot, Veerle Labarque, Gunnar Naulaers, Liesbeth Lewi, Roland Devlieger","doi":"10.1159/000551017","DOIUrl":"10.1159/000551017","url":null,"abstract":"<p><strong>Introduction: </strong>Hemoglobin Bart's hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia, typically caused by homozygous deletion of α-globin genes. However, rare non-deletional variants, such as Hemoglobin (Hb) Agrinio, can also produce a lethal phenotype.</p><p><strong>Case presentation: </strong>We report a case of homozygous Hb Agrinio (HBA2:c.89T>C, p.Leu30Pro) diagnosed prenatally in a fetus of Bulgarian origin presenting with hydrops and severe anemia at 23 weeks of gestation. Following diagnosis, the pregnancy was managed with five intrauterine transfusions, resulting in resolution of hydrops and prolongation of pregnancy to term. The neonate was delivered at 37+3 weeks, required transient respiratory and cardiovascular support, and remains clinically stable at 3 months of age under regular transfusion therapy.</p><p><strong>Conclusion: </strong>To our knowledge, this is only the second reported case of BHFS resulting from homozygous Hb Agrinio successfully managed with intrauterine transfusions, and uniquely, the first to achieve term delivery. This case highlights the importance of considering unstable α-globin variants in the differential diagnosis of unexplained fetal hydrops in an at-risk population. Early diagnosis and timely intrauterine transfusions can significantly improve the perinatal outcomes in these cases.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212675","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":"Slice-to-Volume Registration of the Fetal Thorax to Assess Observed/Expected Total Fetal Lungs Volume in Fetuses with Congenital Diaphragmatic Hernia Who Underwent Fetoscopic Endoluminal Tracheal Occlusion.","authors":"Romain Corroenne, Pamela M Ketwaroo, Magdalena Sanz Cortes","doi":"10.1159/000550698","DOIUrl":"10.1159/000550698","url":null,"abstract":"<p><strong>Introduction: </strong>The objectives of this study were to evaluate the feasibility of slice-to-volume registration (SVR) of the fetal thorax in congenital diaphragmatic hernia (CDH) and to compare observed-to-expected total fetal lung volume (O/E TFLV) obtained from original and SVR MRI volumes for prediction of postnatal survival.</p><p><strong>Methods: </strong>We retrospectively analyzed 35 fetuses with CDH undergoing MRI before and after fetoscopic endoluminal tracheal occlusion (FETO). High-resolution, motion-corrected SVR volumes were reconstructed using an automated pipeline. O/E TFLV was measured on both original and SVR volumes, and results were compared between survivors and non-survivors at 6 months of age. Agreement, correlation, and predictive accuracy were assessed using Pearson correlation and ROC analysis.</p><p><strong>Results: </strong>Four (11.4%) cases were excluded due to uncorrectable artifacts or technical issues. SVR reconstruction required only three acquisitions versus a median of six for conventional imaging. Post-processing took a median of 14 min, and lung delineation was longer for SVR than for original volumes. O/E TFLV measurements showed good to very good agreement between original and SVR volumes (r = 0.75 before and r = 0.96 after FETO), with comparable predictive accuracy for survival (AUC original = 0.81-0.83 vs. AUCSVR = 0.83, p > 0.7).</p><p><strong>Conclusion: </strong>SVR of the fetal thorax is feasible in CDH and provides reliable O/E TFLV measurements with prognostic accuracy comparable to conventional MRI, while reducing the need for repeated acquisitions.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-5"},"PeriodicalIF":1.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146085064","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":"Intrapartum Point-of-Care Ultrasound May Prevent Cord Prolapse in Active Labor: Report of a Case.","authors":"Tullio Ghi, Gaetano Draisci, Francesca Felici, Maria Teresa Santantonio, Roberta Santoloci, Elvira di Pasquo","doi":"10.1159/000550664","DOIUrl":"10.1159/000550664","url":null,"abstract":"<p><strong>Introduction: </strong>Intrapartum point-of-care ultrasound (POCUS) is increasingly employed to assess fetal head position and labor progression. We describe a case in which intrapartum POCUS enabled the early detection of a compound cord presentation, preventing umbilical cord prolapse.</p><p><strong>Case presentation: </strong>A 33-year-old primigravida at 39+4 weeks in active labor showed a persistent right occiput posterior position with slow progress despite adequate contractions. After a failed manual rotation attempt, transperineal ultrasound revealed a hypoechoic tubular structure lying between the fetal head and pubic symphysis, consistent with the umbilical cord. These sonographic findings suggested a compound cord presentation. An urgent caesarean section was performed, and a healthy male neonate weighing 3,700 g was delivered with Apgar scores of 9 and 10 and normal cord gases.</p><p><strong>Conclusion: </strong>Maternal recovery was uneventful. This case highlights the potential of intrapartum POCUS to identify rare, life-threatening conditions such as compound cord presentation, improving decision-making and preventing fetal hypoxia.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-4"},"PeriodicalIF":1.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146085050","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":"Mediastinal Shift Angle and Its Association with Neonatal Mortality in Fetuses with Isolated Left Congenital Diaphragmatic Hernia.","authors":"Donatella Gerulewicz-Vannini, Edgar Hernandez-Andrade, Dejian Lai, Ramesha Papanna, Jimmy Espinoza, Sami Backley, Felicia Venable Lemoine, Matthew T Harting, Ashley H Ebanks, Anthony Johnson","doi":"10.1159/000550641","DOIUrl":"10.1159/000550641","url":null,"abstract":"<p><strong>Introduction: </strong>The mediastinal shift angle (MSA) estimates the lateral displacement of the heart in the fetal thorax. This study aimed to evaluate the MSA's performance in predicting neonatal mortality in fetuses with left isolated congenital diaphragmatic hernia (CDH) as an isolated marker and in combination with other ultrasound and MRI predictors.</p><p><strong>Methods: </strong>MSA was obtained by ultrasound in a cross-sectional four-chamber view of the thorax in 96 fetuses with left isolated CDH. MSA was calculated by drawing two lines from a common point from the skin edge posterior to the spinous process of the thoracic vertebrae, the first line dividing the thorax into two halves, and the second line directed to the lateral border of the right atrium. Additionally, the observed/expected (O/E) lung-to-head ratio LHR, O/E total fetal lung volume (TFLV), and percentage of liver herniation (%LH) were obtained. ROC analysis, prediction, and associations with neonatal mortality were evaluated.</p><p><strong>Results: </strong>Neonatal mortality was 28.1% (27/96). The areas under (AU) the ROC curve for neonatal mortality for MSA and O/E LHR were 0.69 and 0.75, respectively. The best MSA cutoff value was 35°, with 85.2% sensitivity and 67.1% specificity, and aOR 11.75 (95% CI 3.63-37.97; p < 0.0001). Among fetuses with O/E LHR >25% (n = 75), mortality was 17.5% (13/74). In this subgroup, an MSA ≥35° showed an AU-ROC of 0.72 with 83.3% sensitivity and 71.4% specificity, and an aOR 12.5 (95% CI 2.49-62.76; p = 0.002). There was a significant correlation between MSA and O/E LHR (-0.48, p < 0.001), between MSA and O/E TFLV (-0.36, p = 0.005), and between MSA and %LH (0.43, p = 0.001). However, when MSA and O/E LHR were combined, the AU-ROC for neonatal mortality was 0.832, and when MSA, O/E LHR, and O/E TFLV were combined, the AU-ROC improved to 0.901.</p><p><strong>Conclusion: </strong>MSA is a good predictor of neonatal mortality in fetuses with left isolated CDH. The prediction improves when MSA, O/E LHR, and O/E TFLV are combined.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050923","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}