Fetal Diagnosis and Therapy最新文献

{"title":"Transamniotic Fetal Immunotherapy (TRAFIT) with Secretory IgA: A Potential Novel Ancillary Strategy for the Prevention of Necrotizing Enterocolitis.","authors":"Ashlyn E Whitlock,Kamila Moskowitzova,Ina Kycia,Jeffrey Nelson,David Zurakowski,Dario O Fauza","doi":"10.1159/000541434","DOIUrl":"https://doi.org/10.1159/000541434","url":null,"abstract":"INTRODUCTIONSecretory immunoglobulin-A (SIgA), which is not produced perinatally, binds bacteria enhancing mucosal immunity. Higher levels of intestinal bacteria bound by SIgA are protective against necrotizing enterocolitis. Transamniotic fetal immunotherapy (TRAFIT) has previously been used to deliver SIgA to the fetal digestive tract, however with unclear functional impact. We sought to determine whether SIgA administered via TRAFIT could functionally bind intestinal bacteria postnatally.METHODSFetuses (n=38) from four dams underwent intra-amniotic injections of human SIgA on gestational-day 19 (E19; term=E22-E23). After spontaneous delivery, pups were survived for 1-2 days postnatally before intestinal contents were procured and submitted to flow cytometry. Specimens were stained for bacteria (Syto-GFP) and human-SIgA (PE) to prevent cross-reactivity with maternal rat SIgA.RESULTSOverall survival was 94.7% (36/38). SIgA-bacterial complexes were identified in all samples at all time points showing significantly higher positive PE events than unstained controls (p=0.03-0.05). The proportion of bacteria bound by IgA decreased daily, from 45.6% to 29.9% bound at 4 to 6 days post-TRAFIT, respectively (overall p=0.05).CONCLUSIONSTransamniotic fetal immunotherapy with secretory-IgA leads to functionally IgA-bound bacteria into the postnatal period and may be a novel strategy for enhancing early mucosal immunity, potentially protecting the neonate against necrotizing enterocolitis.","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":"30 1","pages":"1-17"},"PeriodicalIF":2.2,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262425","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":"Transamniotic Delivery of Surfactant Protein B mRNA in a Healthy Model.","authors":"Kamila Moskowitzova,Abbie E Naus,Tanya T Dang,David Zurakowski,Dario O Fauza","doi":"10.1159/000541429","DOIUrl":"https://doi.org/10.1159/000541429","url":null,"abstract":"INTRODUCTIONWe sought to determine whether exogenous surfactant protein B (SPB) mRNA could be incorporated and translated by the fetal lung after simple transamniotic administration.METHODSFetuses (n=149) of twelve time-dated dams underwent intra-amniotic injections of either human SPB (hSPB) mRNA encapsulated into lipopolyplex (mRNA, n=99), or of lipopolyplex without mRNA (control; n=50) on gestational day 17 (E17, term=E21-22). Lungs were screened for hSPB by ELISA daily until term. Phosphatidylcholine (a surrogate for surfactant production) was measured in the amniotic fluid by fluorometric assay. Statistical analysis included nonparametric Wilcoxon rank sum test.RESULTSSignificantly improved survival in the mRNA group compared to controls was observed at E18 (100% vs. 85.7%) and E20 (100% vs. 83.3%) (both p<0.001). When controlled by mRNA-free injections, hSPB protein was detected in the mRNA group's lungs at E18, 19, and term (p=0.002 to <0.001). Amniotic fluid phosphatidylcholine levels were increased compared to control at term [285.9 (251.1, 363.9)μM vs. 263.1 (222.8, 309.1)μM], however this did not reach significance (p=0.33).CONCLUSIONSEncapsulated exogenous SPB mRNA can be incorporated and translated by fetal lung cells following intra-amniotic injection in a healthy rat model. Transamniotic mRNA delivery could become a novel strategy for perinatal surfactant protein replacement.","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":"6 1","pages":"1-14"},"PeriodicalIF":2.2,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142262426","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":"Open Fetal Surgery for Ventricular-Amniotic Valve Implantation in Aqueductal Stenosis-Dependent Severe Fetal Hydrocephalus: A Case Report with 7-Year Follow-Up.","authors":"Mateusz Zamłyński, Anita Olejek, Tomasz Koszutski, Janusz Bohosiewicz, Marek Mandera, Jacek Zamłyński, Iwona Maruniak-Chudek, Izabela Herman-Sucharska, Agnieszka Pastuszka","doi":"10.1159/000536121","DOIUrl":"10.1159/000536121","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal ventriculomegaly is one of the most commonly diagnosed central nervous system pathologies of the second trimester, occurring with a frequency of 0.3-0.5/1,000 births. Severe fetal ventriculomegaly (SVM) may necessitate intrauterine intervention. Most such interventions have been made percutaneously with ultrasound guidance insertion of a pigtail catheter, which sadly often became obstructed or migrated.</p><p><strong>Case presentation: </strong>Our case report presents the possibility of ventriculo-amniotic valve implantation (VAVI) by classic hysterotomy in isolated severe fetal hydrocephalus (IVSM) due to aqueductal stenosis. The patient was operated on similarly to open fetal surgery MOMS criteria at 24+4/7 GA, with an initial lateral ventricular dimension of 22.5 mm. A female newborn was delivered by elective cesarean section at 31+1/7 GA due to PPROM (Apgar 10' 8 points, birth weight 1,600 g), required CPAP, and removal of the drainage system due to infection and narrow lateral ventricles. Evans index (EI) gradual increase and clinical symptoms of high-pressure hydrocephalus after 10 days required a ventricle-peritoneal shunt (VPS) implantation. The newborn was discharged home after 28 days with stabile hydrocephalus (EI: 0.59-0.6), in good clinical condition. The 7-year follow-up was complicated by epilepsy, VPS shunt infections, delay in motor and intellectual functions (mild to moderate), and symptoms of atypical autism, the phenotype possibly related to a variant in ZEB2 gene.</p><p><strong>Conclusion: </strong>Intrauterine VAVI is a one-step procedure that is effective in draining CFS. The limitations of the method remain complications due to preterm labor and infection of the drainage system.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"278-284"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899604","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":"Predictors of Poor Outcomes in Monochorionic Diamniotic Twin Pregnancies Complicated by Selective Fetal Growth Restriction.","authors":"Shelly Soni, Juliana Gebb, Kendra Miller, Edward R Oliver, Christina Paidas Teefey, Julie S Moldenhauer, Nahla Khalek","doi":"10.1159/000537861","DOIUrl":"10.1159/000537861","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR), irrespective of the umbilical artery (UA) Doppler abnormalities.</p><p><strong>Methods: </strong>Single-center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010 and 2021. The presence of any of the following variables in the growth-restricted fetus: low amniotic fluid volume (DVP ≤2 cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction, and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1.50 multiples of the median was categorized as complicated. sFGR cases were classified as simple in the absence of the above-mentioned variables.</p><p><strong>Results: </strong>Overall, 63.3% of cases qualified as simple, and 36.7% were complicated. Intertwin EFW discordance was higher in the complicated category (26 vs. 33%, p = 0.0002). The median gestational age at delivery was earlier (33 weeks vs. 30.5 weeks, p = 0.002), and the likelihood of survival was lower in the complicated category (p &lt; 0.0001). The likelihood of two survivors to discharge was lower in type I complicated cases (70% in complicated type I vs. 97.1% in simple type I, p = 0.0003). On logistic regression analysis, an increase in the \"complicated\" score negatively correlated with two survivors to discharge (p &lt; 0.0001). An ROC curve was created, and the AUC was 0.79. Increasing intertwin EFW discordance also decreased the probability of two survivors to discharge.</p><p><strong>Conclusion: </strong>The presence of oligohydramnios, lack of a cycling bladder, abnormal DV Doppler, and elevated MCA-PSV in the growth restricted fetus is associated with poor perinatal outcomes and a lower likelihood of having two survivors to discharge. The addition of intertwin EFW discordance to these variables helped improve the survival predictability.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"300-309"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899605","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 Echogenic Bowel: What Is Real Echogenicity? A Quantitative Method Based on Histogram Analysis of the Grayscale.","authors":"Silvia Spinnato, Alessia De Biase, Caterina Maddalena Bilardo, Ayten Elvan-Taşpınar","doi":"10.1159/000535431","DOIUrl":"10.1159/000535431","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to use computerized analysis of the grayscale spectrum (histogram) to provide an objective assessment of the echogenicity of the fetal bowel. Moreover, we investigated the role of histogram analysis in the prenatal prediction of postnatal outcomes in fetuses with echogenic bowel (fetal echogenic bowel [FEB]).</p><p><strong>Methods: </strong>This is a single-center retrospective study including all fetuses with a diagnosis of echogenic bowel (FEB) in the mid-second trimester between 2015 and 2021. Ultrasound images were analyzed using ImageJ software. The mean of the grayscale histograms of the bowel, liver, and iliac/femur bone was obtained for each patient, and the ratio between these structures was used to overcome gain variations. We compared these values with those of a matched control group of singleton uncomplicated pregnancies and with a group of patients referred for FEB, where the FEB was not confirmed by the expert operator (FEB false-positive).</p><p><strong>Results: </strong>There was a statistically significant difference between bowel/liver and bowel/bone histogram ratios between the FEB group and the control groups (p &lt; 0.05). Mean ratio cutoffs were provided for the diagnosis of FEB. Among the patients with confirmed FEB, both ratios were not able to discriminate the cases with adverse outcomes. In contrast, the presence of dilated bowel or other markers was associated with an adverse outcome.</p><p><strong>Conclusions: </strong>Histogram analysis may refine the diagnosis of FEB and reduce the number of false-positive diagnoses. For the prediction of the fetal outcome, the presence of additional features is clinically more significant than the degree of bowel echogenicity.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"145-153"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10994595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138298833","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":"Artificial Intelligence in Imaging in the First Trimester of Pregnancy: A Systematic Review.","authors":"Emma Umans, Kobe Dewilde, Helena Williams, Jan Deprest, Thierry Van den Bosch","doi":"10.1159/000538243","DOIUrl":"10.1159/000538243","url":null,"abstract":"<p><strong>Introduction: </strong>Ultrasonography in the first trimester of pregnancy offers an early screening tool to identify high risk pregnancies. Artificial intelligence (AI) algorithms have the potential to improve the accuracy of diagnosis and assist the clinician in early risk stratification.</p><p><strong>Objective: </strong>The objective of the study was to conduct a systematic review of the use of AI in imaging in the first trimester of pregnancy.</p><p><strong>Methods: </strong>We conducted a systematic literature review by searching in computerized databases PubMed, Embase, and Google Scholar from inception to January 2024. Full-text peer-reviewed journal publications written in English on the evaluation of AI in first-trimester pregnancy imaging were included. Review papers, conference abstracts, posters, animal studies, non-English and non-peer-reviewed articles were excluded. Risk of bias was assessed by using PROBAST.</p><p><strong>Results: </strong>Of the 1,595 non-duplicated records screened, 27 studies were included. Twelve studies focussed on segmentation, 8 on plane detection, 6 on image classification, and one on both segmentation and classification. Five studies included fetuses with a gestational age of less than 10 weeks. The size of the datasets was relatively small as 16 studies included less than 1,000 cases. The models were evaluated by different metrics. Duration to run the algorithm was reported in 12 publications and ranged between less than one second and 14 min. Only one study was externally validated.</p><p><strong>Conclusion: </strong>Even though the included algorithms reported a good performance in a research setting on testing datasets, further research and collaboration between AI experts and clinicians is needed before implementation in clinical practice.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"343-356"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11318576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143058","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":"Reference Ranges for Left Modified Myocardial Performance Index: Systematic Review and Meta-Analysis.","authors":"Katherine H Bligard, Michelle Doering, Shay Porat, Joshua I Rosenbloom","doi":"10.1159/000535602","DOIUrl":"10.1159/000535602","url":null,"abstract":"<p><strong>Introduction: </strong>The modified myocardial performance index (mod-MPI) is a noninvasive Doppler-derived metric used to evaluate fetal cardiac function. However, the reference ranges for mod-MPI in normal fetuses are not clearly defined, which limits the use of this technology in fetuses with potential cardiac compromise. Thus, we aimed to perform a systematic review and meta-analysis of published mod-MPI reference ranges across gestation.</p><p><strong>Methods: </strong>The published literature was systematically searched, and all published articles in any language that provided values for the left ventricular mod-MPI obtained in low-risk, singleton fetuses were considered eligible for further review. All retrieved titles and abstracts were independently reviewed by two researchers. Mean and standard deviation by gestational week was extracted or calculated from published data. DerSimonian-Laird random-effects models were used to estimate pooled means and 95% confidence intervals (CIs).</p><p><strong>Results: </strong>The search resulted in 618 unique citations, of which 583 did not meet inclusion criteria, leaving 35 abstracts selected for full-text review. Review of the references of these 35 articles identified another 5 studies of interest. Of the 40 articles reviewed, six met inclusion criteria. There was significant heterogeneity seen in the mod-MPI results reported. Mod-MPI increased as pregnancy progressed in all studies. The pooled mean mod-MPI at 11 weeks' gestation was 0.400 (95% CI 0.374-0.426) and increased to 0.585 (95% CI 0.533-0.637) at 41 weeks' gestation. The increase was linear in 5 of 6 studies, while in 1 study, the mod-MPI was stable until 27 weeks' gestation, and then increased throughout the third trimester. Despite all having trends increasing over pregnancy, there was no study in which all the weekly means fell within the pooled 95% CI.</p><p><strong>Conclusion: </strong>While mod-MPI does increase over gestation, the true \"reference ranges\" for fetuses remain elusive. Future efforts to further optimize calculation of time intervals possibly via automation are desperately needed to allow for reproducibility of this potentially very useful tool to assess fetal cardiac function.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"159-167"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10994601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138829005","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":"Fetal Lower Urinary Tract Obstruction: Current Diagnostic and Therapeutic Strategies and Future Directions.","authors":"Alicia D Menchaca, Oluyinka O Olutoye","doi":"10.1159/000540198","DOIUrl":"10.1159/000540198","url":null,"abstract":"<p><strong>Background: </strong>Fetal lower urinary tract obstruction (LUTO) is a rare congenital anomaly in which the bladder cannot empty properly. The clinical presentation is variable. On the severe end of the spectrum, the amniotic fluid index can be sufficiently low, resulting in fetal lung development that is incompatible with life outside the womb. The pressure in the urinary tract system can also result in severe damage to the kidney, resulting in renal failure in utero or in the first couple years of life. Therefore, much work has been done to determine which fetuses need intervention in utero to allow for survival outside of the womb and avoidance of end-stage renal disease. Multiple therapies have been developed to relieve the obstruction in utero with the mainstay being vesicoamniotic shunting and posterior urethral valve ablation.</p><p><strong>Summary: </strong>While much has been investigated to determine which fetuses would benefit from fetal intervention, the current indications are not without their flaws. This review describes the current indications and their shortcomings, as well as new experimental methods of determining need for intervention. Additionally, this review describes the milestone animal studies that established the challenges of current fetal interventions and the utility of an experimental valved shunt in sheep over the last 20 years.</p><p><strong>Key messages: </strong>Our understanding of LUTO and which fetuses benefit from in utero intervention has grown over the last 20 years. However, traditional markers have proven to be less predictive than previously thought, opening the door to exciting new advances. Vesicoamniotic shunting, while lifesaving, does not preserve bladder function and frequently dislodges. Animal studies over the last 20 years have established the utility of a valved shunt to maintain bladder function. Current advances are working to create such a shunt that can be percutaneously deployed and have greater adherence to the bladder wall to avoid dislodgement.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"603-611"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787709","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":"Short- and Long-Term Outcome of Selective Reduction by Fetoscopy-Guided Bipolar Cord Coagulation in Monochronic Twin Pregnancies.","authors":"Huirong Tang, Chenyan Dai, Chenchen Yan, Jie Li, Yimin Dai, Xian Xiao, Liang Jin, Yali Hu, Mingming Zheng","doi":"10.1159/000539462","DOIUrl":"10.1159/000539462","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to assess the short- and long-term outcome of selective reduction by fetoscopy-guided bipolar cord coagulation in monochronic twin pregnancies.</p><p><strong>Methods: </strong>Retrospective analysis was conducted of a consecutive cohort of all monochorionic twin pregnancies treated with fetoscopy-guided bipolar cord coagulation between December 2015 and December 2022 in a single center in China.</p><p><strong>Results: </strong>A total of 43 monochronic twin pregnancies undergoing fetoscopy-guided bipolar cord coagulation were analyzed. There were 5 intrauterine deaths with an 88.4% (38/43) survival rate overall. The preterm premature rupture of the membranes rate was 13.2%, and the preterm birth before 37 and 32 weeks was 42.1% and 13.1%, respectively. An uptrend in the survival rate (78.9 vs. 95.8%, p = 0.086) and a downtrend of procedure time (30 vs. 16.5 min, p = 0.036) were observed over time (period 1 from December 2015 to December 2019 verses period 2 from January 2020 to December 2022). Long-term outcome was assessed in 94.6% (35/37) of survivors, and 91.4% (32/35) had normal neurodevelopmental outcome.</p><p><strong>Conclusion: </strong>Fetoscopy-guided bipolar cord coagulation for fetal reduction in complicated monochorionic twin pregnancies could achieve a favorable short- and long-term outcome, especially in experienced hands.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"516-524"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141260762","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 Diagnosis of Fetal Aqueductal Stenosis: A Multicenter Prospective Observational Study through the North American Fetal Therapy Network.","authors":"Stephen P Emery, Samia Lopa, Erika Peterson, Angie C Jelin, Marjorie C Treadwell, Juliana Gebb, Henry L Galan, Eric Bergh, Amanda Criebaum, Amelia McLennan, Joseph Lillegard, Yair J Blumenfeld","doi":"10.1159/000536037","DOIUrl":"10.1159/000536037","url":null,"abstract":"<p><strong>Introduction: </strong>A critical component of an evidence-based reassessment of in-utero intervention for fetal aqueductal stenosis (fetal AS) is determining if the prenatal diagnosis can be accurately made at a gestational age amenable to in-utero intervention.</p><p><strong>Methods: </strong>A multicenter, prospective, observational study was conducted through the North American Fetal Therapy Network (NAFTNet). Pregnancies complicated by severe central nervous system (CNS) ventriculomegaly (lateral ventricle diameter &gt;15 mm) not secondary to a primary diagnosis (myelomeningocele, encephalocele, etc.) were recruited at diagnosis. Imaging and laboratory findings were recorded in an online REDCap database. After evaluation, investigators were asked to render their degree of confidence in the diagnosis of fetal AS. The prenatal diagnosis was compared to the postnatal diagnosis obtained through neonatal neuroimaging. Performance characteristics of ultrasound and magnetic resonance imaging (MRI) were calculated, as was the mean gestational age at diagnosis.</p><p><strong>Results: </strong>Between April 2015 and October 2022, eleven NAFTNet centers contributed 64 subjects with severe fetal CNS ventriculomegaly. Of these, 56 had both prenatal and postnatal diagnoses recorded. Ultrasound revealed 32 fetal AS true positives, 4 false positives, 7 false negatives, and 13 true negatives, rendering a sensitivity of 0.82, a specificity of 0.76, a positive predictive value of 0.89, and a negative predictive value of 0.65. The mean gestational age at diagnosis by ultrasound was 25.5 weeks (std +/- 4.7 weeks). The proportion of agreement (true positive + true negative/n) was highest at 24 weeks gestation. For fetal MRI (n = 35), the sensitivity for fetal AS was 0.95, specificity was 0.69, positive predictive value was 0.84, and negative predictive value was 0.90. MRI was performed at 25 weeks on average.</p><p><strong>Conclusion: </strong>The prenatal diagnosis of fetal AS can be made with accuracy at a gestational age potentially amenable to in-utero intervention. Only 7% of subjects were incorrectly diagnosed prenatally with fetal AS by ultrasound and 11% by MRI. Diagnostic accuracy of fetal AS will likely improve with increased experience.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"216-224"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139697233","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}