Fetal Diagnosis and Therapy最新文献

{"title":"Enhanced Recovery after Fetal Sequencing: A Perinatal Genomic Scoping Review of Exome/Genome Testing for Reproductive/Obstetric-MFM Providers to Initiate Knowledge Translation following a Screening Ultrasound Identifying Fetal Anomalies.","authors":"Robert Douglas Wilson","doi":"10.1159/000546993","DOIUrl":"10.1159/000546993","url":null,"abstract":"<p><strong>Background: </strong>This review of genomic perinatal opportunities and uses will provide counseling and personal genetic knowledge for improved patient care.</p><p><strong>Summary: </strong>This focused systematic analysis and review has used PubMed keywords to identify genomic testing for ultrasound-identified fetal anomaly(ies) that require diagnostic testing after an informed consent process. Multiple fetal anomalies, using TRIO sequencing processes, have a better diagnostic yield, with certain cohorts >50%. For the single anatomic categories, skeletal system, central nervous system, and renal system, using WES fetal sequencing (most commonly) for a diagnostic result, have the larger incremental diagnostic yield over the chromosome micro-array.</p><p><strong>Key messages: </strong>The phenotype-genotype (fetal-genomic result) consideration and use of the prenatal exome sequencing technology can be summarized using a SWOT analysis: strength (enhanced evaluation of fetal-neonatal genomic abnormalities not identified by standard chromosomal microarray and improved ethical care decisions); weakness (the understanding and complexity of genomic pathology and testing/the fiscal cost for professional time and the health system services); opportunity (an increased recognition of fetal genetic risk pathology [de novo or inherited carrier mutations] with improved understanding and knowledge translation of counseling for recurrence risk); threat (inability to provide a genetic diagnosis or interpret a variant of unknown significance or the discovery of incidental findings or unanticipated parental genomic diagnoses).</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-16"},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144483690","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":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","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":"New Anhydramnios after 22 Weeks and Pulmonary Hypoplasia.","authors":"Aaron W Roberts, Margaret Clement, Suzanne Marie Lopez, Rita Swinford, Percy Pacora Portella, Edgar Hernandez-Andrade, Matthew Rysavy, Anthony Johnson","doi":"10.1159/000546988","DOIUrl":"10.1159/000546988","url":null,"abstract":"<p><strong>Introduction: </strong>Anhydramnios due to renal failure prior to 22 weeks of gestational age (WGA) is associated with lethal pulmonary hypoplasia but after 22 WGA outcomes are less clear. We evaluated whether these fetuses, with new anhydramnios after 22 WGA, incur significant risk of severe neonatal pulmonary morbidity.</p><p><strong>Methods: </strong>This retrospective study of singleton pregnancies diagnosed with new-onset renal anhydramnios after 22 WGA following verifiable normal AFI on ultrasound before 22 WGA from 2021 to 2023. Cases with bilateral renal agenesis, premature rupture of membranes, and nonrenal malformations were excluded.</p><p><strong>Results: </strong>During the study period 53,698 s trimester ultrasound examinations were performed, of which 82 patients had new anhydramnios after 22 weeks, and 6 met criteria for inclusion in the study. Renal anhydramnios in each was secondary to a lower urinary tract outlet obstruction. Two of these (2/6, 33%) underwent procedures that corrected anhydramnios and survived, the rest suffered lethal pulmonary hypoplasia.</p><p><strong>Conclusion: </strong>Onset of, and persistent, renal anhydramnios after 22 WGA is associated with lethal pulmonary morbidity. Although clinical trials to date have focused on intervention for patients with renal anhydramnios prior to 22 WGA, investigation of treatments those with renal anhydramnios after 22 WGA is warranted to mitigate severe pulmonary hypoplasia.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.6,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12306945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474406","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":"Potential of Fetal Electrocardiography Monitoring in Evaluating Treatment Indications for Fetal Supraventricular Tachycardia.","authors":"Takeshi Ikegawa, Yuki Okada, Yuki Kamihara, Michi Kasai, Hiromi Nagase, Hiroshi Ishikawa, Hideaki Ueda, Yoshitaka Kimura, Motoyoshi Kawataki","doi":"10.1159/000547011","DOIUrl":"10.1159/000547011","url":null,"abstract":"<p><strong>Introduction: </strong>Accurate assessment of fetal supraventricular tachycardia (SVT) frequency is critical for deciding treatment strategies. In this study, we evaluated the potential of prolonged non-invasive fetal electrocardiography (fECG) monitoring for assessing SVT and guiding therapy.</p><p><strong>Case presentation: </strong>A 37-year-old woman at 28 weeks of gestation was referred to our hospital for fetal tachycardia. The patient was diagnosed with fetal arrhythmia, including occasional premature atrial contractions and SVT. Fetal heart rate monitoring using Doppler-based cardiotocography (CTG) with external transducers was insufficient for accurate frequency evaluation; moreover, brief fetal echocardiography was inadequate due to marked diurnal variation in SVT frequency. Prolonged fECG monitoring at 29 and 31 weeks of gestation revealed that SVT did not persist for 12 or more hours or for more than 50% of the monitoring period, indicating a low risk for fetal hydrops. The pregnancy proceeded normally, and the infant was born healthy at 38 weeks.</p><p><strong>Conclusion: </strong>This report suggests that prolonged fECG monitoring is a more reliable and less invasive method for assessing fetal SVT frequency compared with traditional CTG or fetal echocardiography. Furthermore, it provides a non-invasive and accurate approach for evaluating the need for fetal therapy, especially in arrhythmia cases where frequency assessment is essential.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324902","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":"Development of a Postpartum Follow-Up Program in a Fetal Center.","authors":"Shelly Soni, Shaunessy Sneller, Susan Spinner, Julie S Moldenhauer","doi":"10.1159/000547010","DOIUrl":"10.1159/000547010","url":null,"abstract":"<p><strong>Introduction: </strong>Patients delivering in a highly specialized fetal center often travel a distance from their homes and primary care providers, leaving the potential for significant gaps in comprehensive postpartum care. The objective of the study was to evaluate the implementation, engagement, and outcomes of a nurse-led postpartum follow-up program during its first year of inception.</p><p><strong>Methods: </strong>A registered nurse conducted outreach via phone, text, or email at 2-3 and 6-8 weeks postpartum for all patients who delivered in a special delivery unit of a children's hospital. Standardized scripts included medical and mental health concerns to assess engagement, postpartum complications, care utilization, contraception use, lactation, and follow-up completion.</p><p><strong>Results: </strong>Of 407 patients, 503 total outreach calls were completed. The engagement rate was high, with contact established for 89.9% of participants. At least one clinical concern was identified in over 25% of patients, prompting further follow-up. Only 1.7% required readmission and 94.3% visited an emergency department, rates comparable to national postpartum benchmarks. At 6-8 weeks, 75% had attended or scheduled a postpartum visit. Contraception use was reported by 65% of patients, and 67% reported active lactation. Mental health screening flagged 6.4% of patients, with a significantly higher rate (26.5%) among those who experienced fetal or neonatal loss compared to those who did not (4.3%, p < 0.00001).</p><p><strong>Conclusion: </strong>The implementation of a comprehensive nurse-led postpartum program in a fetal therapy center achieved a high engagement rate and demonstrated feasibility and value in bridging care gaps supporting the expansion of telehealth-based postpartum follow-up in fetal therapy centers.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324899","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":"Left and Right Ventricular Strain Mechanics in Fetal Tachyarrhythmia.","authors":"Rukmini Komarlu, Janelle Noel-MacDonnell, Neha Chellu, Geetha Haligheri","doi":"10.1159/000546991","DOIUrl":"10.1159/000546991","url":null,"abstract":"<p><strong>Introduction: </strong>Assessment of myocardial function in fetuses with supraventricular tachyarrhythmia is challenging. Speckle-tracking echocardiography (STE) is a newer sensitive method to assess ventricular systolic function. We sought to assess left (LV) and right (RV) ventricular myocardial strain mechanics in fetuses with tachyarrhythmia and hypothesized that strain mechanics are impaired in this patient population even after conversion to sinus rhythm.</p><p><strong>Methods: </strong>This was a single-center retrospective review. LV and RV strain parameters were assessed using STE in tachyarrhythmia and after conversion to sinus rhythm and, compared to gestational age (GA), matched control fetuses in sinus rhythm.</p><p><strong>Results: </strong>Eighteen fetuses with tachyarrhythmia and 18 controls were analyzed at median GA of 31 weeks (range 28-34 weeks). LV Global Longitudinal Strain (GLS) (-4.5% [-5.2, -1.9] vs. -11.2% [-14.6, -9.9]; p value 0.0001), Strain Rate (-0.8% [-1.5, -0.6] vs. -1.7% [-2.5, -1.2]; p value 0.007), and Global Longitudinal Velocity (GLV) (0.7 cm/s [0.5, 1.3] vs. 1.8 cm/s [0.9, 2.1]; p value 0.003) were reduced in tachyarrhythmia and improved with sinus rhythm but remained abnormal compared to controls. RV GLS (-6.3% [-8.5, -5.1] vs. -13.6% [-15.3, -10.6]; p value <0.0001), Strain rate (-1.3% [-1.7, -0.9] vs. -2.1% [-2.5, -1.4]; p value 0.0103), and GLV (1.2 cm/s [0.8, 1.7] vs. 1.9 cm/s [1.2, 2.7]; p value 0.026) were low in tachyarrhythmia and improved with sinus rhythm but remained lower than in controls. Regional strain was decreased in all LV and RV segments in tachyarrhythmia.</p><p><strong>Conclusion: </strong>Fetuses in tachyarrhythmia had reduced measures of myocardial deformation that improved with sinus rhythm but remained low compared to matched controls. Future studies are needed to explore the utility of STE for serial monitoring of fetuses in tachyarrhythmia and to assess response to therapy.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324901","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":"Fetoscopic Endoluminal Tracheal Occlusion in Congenital Diaphragmatic Hernia: Unraveling the Impact of Prematurity and Suboptimal Fetal Lung Growth.","authors":"Kylie I Holden, Ashley H Ebanks, Eric P Bergh, Anthony Johnson, Kuojen Tsao, Kevin P Lally, Matthew T Harting","doi":"10.1159/000546839","DOIUrl":"10.1159/000546839","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital diaphragmatic hernia (CDH) poses significant challenges in both prenatal diagnosis and postnatal management. Fetoscopic endoluminal tracheal occlusion (FETO) aimed to enhance survival rates among patients with severe CDH, defined by an observed-to-expected lung-to-head ratio (o/e-LHR) of less than 25%. However, issues such as preterm delivery and suboptimal fetal lung growth (SFLG) complicate outcomes. This study examines the effects of these critical risks on FETO results.</p><p><strong>Methods: </strong>Data were retrospectively gathered from the multi-institutional CDH Study Group registry on patients with CDH who underwent FETO between 2015 and 2023. Key metrics included CDH study group stage, gestational age (with preterm defined as <37 weeks), o/e-LHR, FETO details, and survival outcomes. The primary outcome was survival, correlated with lung growth and prematurity.</p><p><strong>Results: </strong>Among 4,524 CDH patients, 106 (2.3%) received FETO; however, 43 patients had o/e-LHR data. Analyses revealed an overall survival rate of 72.1%, though survival for patients delivered preterm with SFLG decreased to 57.1%, while survival among term patients with any increase in fetal lung growth was 90.0%. In univariate analyses, the balloon inflation duration (p = 0.05), the use of extracorporeal life support (p = 0.04), and the post-balloon o/e-LHR (p = 0.04) were associated with survival, while in a multivariable logistic regression, the change in o/e-LHR after FETO (OR = 1.07, p = 0.05) was the only variable found to be significantly associated with survival.</p><p><strong>Conclusion: </strong>Prematurity and SFLG are critical factors linked to decreased survival in FETO, with improved o/e-LHR correlating with better outcomes. Future research should focus on refining patient selection and procedural protocols, with a particular focus on mitigating known complications such as preterm delivery and SFLG, to enhance survival rates.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324900","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 Repair of Spina Bifida Using Uterine Wound Retractor: A Single-Center Cohort Study.","authors":"Edgardo Corral, Jose M Müller, Aura Jimenez, Juan Figuera, Silvana Echeverria, Yamila Roldan, Carolina B Lindsay, Renatto Anfossi, Waldo Sepulveda","doi":"10.1159/000546162","DOIUrl":"10.1159/000546162","url":null,"abstract":"<p><strong>Introduction: </strong>Spina bifida (SB) is a severe neural tube defect affecting motor function, mobility, and quality of life. Prenatal repair has become the gold standard in selected cases, offering better outcomes than postnatal approaches. This study evaluated SB prenatal repair outcomes in a middle-income country, comparing our results with the Management of Myelomeningocele Study (MOMS) trial. It also reports the impact of routine use of uterine wound retractor on reducing uterine trauma and improving outcomes.</p><p><strong>Methods: </strong>This retrospective observational study analyzed 90 fetuses undergoing open prenatal SB repair between 2012 and 2024 at a single center in Chile. Inclusion/exclusion criteria followed the MOMS trial, later adjusted to include higher maternal body mass index (BMI) (n = 11) and gestational age at surgery >26 weeks (n = 12) based on emerging evidence. Clinical outcomes were assessed at 12 and 30 months postnatally and compared with MOMS trial results.</p><p><strong>Results: </strong>Our cohort had a higher maternal BMI, shorter cervical length, and more severe lesion level (L1-L4) than the MOMS trial. Maternal outcomes were favorable, with lower chorioamniotic separation (1% vs. 26%), oligohydramnios (4% vs. 21%), and preterm prelabor rupture of membranes (25% vs. 46%). Neonatal outcomes included more births ≥37 weeks (47% vs. 21%) but a greater proportion of low-birth-weight neonates <10th percentile (14% vs. 4%). At 12 months, ventriculo-peritoneal shunting was less frequent (33% vs. 40%) but not statistically significant. At 30 months, walking with orthesis was higher (48% vs. 29%), but independent walking was lower (13% vs. 42%).</p><p><strong>Conclusions: </strong>This study confirms the feasibility and effectiveness of open prenatal SB repair in a middle-income setting, with outcomes comparable and in some instances even better than the MOMS trial. Our results suggest that the combined use of a smaller hysterotomy and an atraumatic, low-cost, and widely available uterine wound retractor could significantly improve maternal and obstetric results. This is the largest cohort evaluating this approach in a single referral center.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301470","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 Advanced Neurosonography in the First Trimester of Pregnancy.","authors":"Mª Angeles Rodríguez, Mónica Echevarría, Laura Perdomo, Ignacio Rodríguez, Gerard Albaiges, Miriam Illa, Pilar Prats","doi":"10.1159/000546460","DOIUrl":"10.1159/000546460","url":null,"abstract":"<p><strong>Introduction: </strong>Some of the central nervous system malformations (CNSs) can be detected or suspected during the first trimester.</p><p><strong>Methods: </strong>Prospective observational study including singleton pregnancies, CRL between 60 and 82 mm and normal basic ultrasound examination. In the axial plane, we examined: lateral ventricles (LV), choroid plexus of LV (PCVL), PCVL/VL ratio, insula, cerebellum, distance from Sylvian aqueduct to occipital bone, IV ventricle (IVV), and cisterna magna (CM) and in the sagittal plane, we assessed: 4 lines-3 spaces, brain stem (BS), fourth ventricle, IVV choroid plexus (PC), CM, distance from BS to occipital bone (BSOB) and BS/BSOB ratio.</p><p><strong>Results: </strong>Ninety-two fetuses were included. The extended examination was successfully performed in 86 (93.5%) cases. The insula, LV and CPLV (axial planes) as well as all structures in the sagittal planes were assessed at 100%. The IVV, PC and CM (axial planes) were visualized at 90 (97.8%) fetuses. In 89 (96.7%) fetuses, the cerebellum was successfully evaluated, while in 88 (95.7%) cases, the tectum, aqueduct of Sylvius, and Ac-Oc distance were measured. Good intra- and interobserver concordance was observed for all parameters, as confirmed by Bland-Altman analyses. Advanced ultrasound increased the total examination time by 3 min compared to basic examination.</p><p><strong>Conclusions: </strong>Advanced first-trimester CNS assessment, including the incorporation of early markers to predict CNS abnormalities, is feasible with good intra- and interobserver agreement and minimal additional ultrasound scanning time.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-14"},"PeriodicalIF":1.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173171","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":"Neonatal Outcomes of Multiple Congenital Thoracic Lesions.","authors":"Anthony di Natale, Sabrina Flohr, Leny Mathew, Cara Katterman, Colby Gallagher, Thomas A Reynolds, Juliana S Gebb, Howard B Panitch, Edward R Oliver, Natalie E Rintoul, William H Peranteau, Alan W Flake, N Scott Adzick, Holly L Hedrick","doi":"10.1159/000541319","DOIUrl":"10.1159/000541319","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital pulmonary airway malformations (CPAM), intra- and extralobar bronchopulmonary sequestrations (iBPS/eBPS), CPAM-BPS hybrid lesions (HL), congenital lobar emphysema (CLE), bronchial atresia (BA), and foregut duplication cysts (FDC), collectively referred to as congenital thoracic lesions (CTL), are mostly solitary. Patients with multiple CTL are rare, and reports on such cases are scarce. To address this dearth, we analyzed a large multifocal CTL patient cohort.</p><p><strong>Methods: </strong>Retrospective chart review of patients born between September 1, 2013, and March 31, 2023, who underwent surgery for a CTL at our tertiary center. Patients with radiological and surgical diagnosis of multifocal CTL, defined as ≥2 CTL present in more than one lobe were included to record pre-, peri-, and postnatal patient characteristics.</p><p><strong>Results: </strong>Among 701 CTL patients, 74 (10.5%) had multiple CTL. CTL multifocality was prenatally recognized correctly in 8 (12.9%) patients. Most multiple CTL were right-sided, unilateral multilobar lesions (n = 33, 44%). Bilateral CTL were found in 9 (12.1%) patients. CPAM-CPAM lesions were the most prevalent CTL types (n = 36, 49%). Genetic syndromes were confirmed in 3 (4%) and additional congenital anomalies in 9 (12.9%) patients, 5 of those had multiple congenital anomalies. Of 49 (65%) patients with multilobar CTL, 25 (51%) underwent bilobectomy and 24 (49%) lung-sparing surgery. Length of stay was similar. Mortality was 5.4%.</p><p><strong>Conclusion: </strong>We report on the largest patient cohort with multiple CTL to date. Multiple CTL occurred in 1/10 patients with CTL, and only 12.9% were recognized prenatally. Lung-sparing surgery can be considered. Multiple additional congenital anomalies and genetic syndromes may be more common and genetic testing should be considered. Overall, outcomes in this patient population are favorable.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"194-206"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153521","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}