Prenatal Diagnosis最新文献

{"title":"A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction.","authors":"Yu Tan, Huan Tian, Jingqun Mai, Rong Xu, Mei Yang","doi":"10.1002/pd.70225","DOIUrl":"10.1002/pd.70225","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1660-1662"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148472478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review.","authors":"Riccardo Tudisco, Pauline Latapie, Anita Romiti, Alexandra Benachi, Maelig Abgral, Alexandre J Vivanti","doi":"10.1002/pd.70228","DOIUrl":"10.1002/pd.70228","url":null,"abstract":"<p><p>Mirror syndrome is a rare maternal-fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clinical and biochemical overlap with preeclampsia. This narrative review summarizes current evidence on mirror syndrome, with a focus on prenatal diagnosis, placental pathophysiology and the role of targeted fetal therapy. Mirror syndrome is most frequently associated with non-immune causes of fetal hydrops and available evidence supports a central role for the placenta in disease pathogenesis. Recent data suggest that angiogenic biomarkers, including sFlt-1 and PlGF, may be useful in the differential diagnosis from preeclampsia. Resolution of fetal hydrops through in utero therapy can lead to rapid maternal improvement and pregnancy prolongation in selected cases. Early recognition and multidisciplinary management are essential to optimize maternal and fetal outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1617-1625"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.","authors":"L Guibaud, M Bordas-Fournel, S Cabet, C Le Vaillant, A Bruel, T Lefrançois, C Megier, A Benachi, M Sohier, Y Gallois, T Simon, J-M Jouannic, G Canaud, A Guilhem, A Atallah, A Fraissenon","doi":"10.1002/pd.70230","DOIUrl":"10.1002/pd.70230","url":null,"abstract":"<p><strong>Objective: </strong>Maternal sirolimus therapy has emerged as a potential prenatal treatment for extensive fetal lymphatic malformations, particularly when associated with the risk of neonatal airway compromise. Data on prenatal indications, pharmacokinetics, and outcomes remain limited. We aimed to describe patient selection, treatment management, maternal and fetal safety, and early outcomes.</p><p><strong>Methods: </strong>Between December 2023 and May 2025, 15 fetuses with extensive cystic or mixed vascular anomalies suggestive of lymphatic malformations were referred to a national reference center. Prenatal ultrasound and fetal magnetic resonance imaging were performed. After maternal evaluation and informed consent, sirolimus was administered with weekly dose adjustments based on maternal trough levels. Tolerance, drug concentrations at delivery, obstetric outcomes, and neonatal evolution were assessed. Decrease in lesion extent was assessed using a semi-quantitative 0-4 imaging scale.</p><p><strong>Results: </strong>Six fetuses received therapy after the exclusion of nine cases. Treatment began between 24 and over 30 weeks' gestation. Maternal adverse effects were mild. Transplacental drug transfer was observed with variable maternal-fetal ratios. Mean gestational age at birth was 38.1 weeks. Partial or marked lesion regression occurred in five newborns.</p><p><strong>Conclusions: </strong>Maternal sirolimus therapy appears feasible and well tolerated for extensive fetal lymphatic malformations, demonstrating transplacental transfer and encouraging early perinatal outcomes in carefully selected pregnancies overall.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1626-1636"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148797333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Diagnosis and Prenatal Management of Non-RHD Alloimmunizations.","authors":"Mar Bennasar, Antoni Borrell","doi":"10.1002/pd.70231","DOIUrl":"https://doi.org/10.1002/pd.70231","url":null,"abstract":"<p><p>Red blood cell (RBC) alloimmunization remains a relevant cause of hemolytic disease of the fetus and newborn (HDFN). Although RhD immunization has significantly decreased since the implementation of systematic prophylaxis, it is still the main cause of alloimmunization in pregnancy. Clinically significant non-RhD alloantibodies, particularly those of the Rh (c, C, E), Kell, Kidd, Duffy, and MNS systems, are associated with variable risk of fetal anemia and account for an increasing proportion of alloimmunized pregnancies requiring specialized prenatal care. Most diagnostic algorithms and management protocols are based on evidence derived from RhD alloimmunization. Although these frameworks are often extrapolated to other alloantibodies, important differences exist regarding antibody titration and critical thresholds, the diagnostic accuracy of non-invasive fetal antigen genotyping, and the risk and timing of fetal and neonatal interventions. These differences underscore the need for antibody-specific considerations in the prenatal diagnosis and management of non-RhD alloimmunization. Though advances in non-invasive diagnostic techniques have improved risk stratification and optimized prenatal management, individualized care pathways in alloimmunized pregnancies are needed. This review will focus on the current strategies for prenatal diagnosis and risk assessment in pregnancies complicated by non-RhD red cell alloimmunization.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148679908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions.","authors":"Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D Adams","doi":"10.1002/pd.70154","DOIUrl":"10.1002/pd.70154","url":null,"abstract":"<p><strong>Objective: </strong>Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision-making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.</p><p><strong>Method: </strong>This is a cross-sectional study of maternal and fetal outcomes among individuals with genetic conditions, who delivered between 2011 and 2024. The primary outcomes were the rates of prenatal diagnostic testing and positive neonatal findings.</p><p><strong>Results: </strong>Of 283 cases, 25 (8.8%) individuals underwent prenatal diagnostic testing, of which 24 (96%) specifically tested for the maternal genetic condition. The maternal condition was inherited by 48% of those undergoing prenatal diagnostic testing versus 18.6% of those who underwent post-natal genetic testing. The group that underwent prenatal diagnostic testing had a smaller proportion of autosomal recessive conditions than those who did not undergo diagnostic testing (8% vs. 38%, p = 0.0028).</p><p><strong>Conclusion: </strong>Despite an elevated risk of genetic condition transmission in this cohort, the rate of prenatal diagnostic testing was notably low. Prenatal diagnostic testing has significant implications for perinatal planning and long-term health of the fetus. Further studies should evaluate barriers to and attitudes toward diagnostic testing in individuals with genetic conditions.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1374-1384"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Celocentesis for Prenatal Diagnosis of Rare Monogenic Diseases: Development, Validation, and Clinical Outcome on 876 Cases.","authors":"Antonino Giambona, George Makrydimas, Aurelio Maggio, Filippo Cassarà, Giuseppe Marchese, Filippo Leto, Susanna Marotta, Valentina Cigna, Emanuela Orlandi, Maria Elena Mugavero, Kypros H Nicolaides, Margherita Vinciguerra, Francesco Picciotto","doi":"10.1002/pd.70184","DOIUrl":"10.1002/pd.70184","url":null,"abstract":"<p><strong>Objective: </strong>To report on the development, validation, and clinical outcomes of 876 consecutive cases of prenatal diagnosis of rare monogenic diseases using celocentesis.</p><p><strong>Methods: </strong>This retrospective single-center study, conducted between April 2006 and December 2025, evaluated celomic fluid collected at 7-9 weeks of gestation from women at risk of carrying fetuses with monogenic diseases. Fetal DNA was obtained by isolating embryo-fetal erythroid precursors. All samples were assessed for the presence of parental molecular defects and maternal cell contamination (MCC).</p><p><strong>Results: </strong>The median gestational age at the time of celocentesis was 8.4 weeks. Successful aspiration of celomic fluid was achieved in 875/876 cases (99.9%). Although MCC was observed in 98.74% of the samples, an initial subset of 19/190 (10%) was found unsuitable for molecular analysis. Subsequently, an optimized molecular workflow was successfully applied to the remaining cohort, achieving a success rate of 98% (671/685 procedures). Results were validated against confirmatory samples from abortive tissue (following VIP), amniotic fluid, or postnatal blood. All cases were correctly classified, demonstrating 100% sensitivity and specificity.</p><p><strong>Conclusion: </strong>This study supports the clinical application of celocentesis as a reliable early prenatal diagnostic procedure for monogenic diseases. It represents a viable alternative to Chorionic Villus Sampling (CVS) and amniocentesis, enabling invasive prenatal diagnosis at a significantly earlier stage of pregnancy.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1411-1422"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148006079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International Expert Consensus on the Diagnosis and Clinical Management of Primary Fetal Pleural Effusion.","authors":"May Abiad, Ali Javinani, Maria C Lopez, Matthew H Mossayebi, Tim Van Mieghem, Francesca Russo, Rodrigo Ruano, Edward Araujo Júnior, Ingrid Schwach, Russell Miller, Yoav Yinon, Robert Cincotta, Erin E Perrone, Haruhiko Sago, Monique C Haak, Mar Bennasar Sans, Gerardo Sepulveda Gonzalez, Asma Khalil, Cesar Meller, Ramen H Chmait, Mounira Habli, Hiba J Mustafa, Raphael C Sun, Petya Chaveeva, Jimmy Espinoza, Mauro Schenone, Ramesha Papanna, Lu-Ming Sun, Ahmed A Nassr, Anita Moon-Grady, Alireza A Shamshirsaz, Eyal Krispin","doi":"10.1002/pd.70221","DOIUrl":"10.1002/pd.70221","url":null,"abstract":"<p><strong>Objective(s): </strong>Fetal pleural effusion is a rare condition that may significantly impact fetal and neonatal outcomes. Currently, no universal standardized approach exists for diagnosing and managing primary fetal pleural effusions. This study aimed to develop structured, expert-based clinical guidelines for the diagnosis, monitoring, management, and follow-up care of primary fetal pleural effusion.</p><p><strong>Methods: </strong>A Delphi method was employed to achieve consensus among an international panel of experts in fetal medicine. Experts were selected based on their clinical expertise, affiliations, and relevant publications. A three-round anonymous electronic survey was sent to the full panel. In the initial two rounds, participants rated each statement on a Likert scale (1-5) and provided suggestions for modifications. Statements with a median score of five and no suggested changes were accepted as consensus. Statements with a median score below four were rejected. Statements scoring a median of four were revised according to suggestions and reconsidered in the subsequent round. In the final round, participants indicated their agreement or disagreement with the remaining statements. Consensus was defined as agreement from more than 70% of participants with no suggestions for further changes.</p><p><strong>Results: </strong>A total of 101 expert clinicians accepted the invitation and completed the first round with 73 (72%) completing all three rounds. Consensus statements were achieved on aspects of diagnosis, monitoring, intervention, post-intervention management, and delivery. Key recommendations concerning the diagnosis of primary fetal pleural effusion include the use of ultrasound as the primary modality for identifying fetal pleural effusion and excluding secondary causes through detailed genetic, infectious, and metabolic evaluations. Management strategies emphasized thoracoamniotic shunting as the preferred intervention in hydropic fetuses with primary pleural effusion. Experts reached consensus that shunt placement could be offered as early as 16 weeks. No consensus was reached for isolated effusion without hydrops, as management was considered case-dependent. The importance of ultrasonographic monitoring of fetal status at least weekly post-intervention was strongly endorsed.</p><p><strong>Conclusion(s): </strong>The Delphi method facilitated the development of a consensus-based protocol for diagnosing and managing primary fetal pleural effusion. These standardized guidelines are intended to enhance clinical practice across various settings, improve perinatal outcomes, and serve as a foundation for future research for this high-risk fetal condition.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1312-1322"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 of Maximum Diameter and Volume of the Fetal Large Intestine During the Second-to Third-Trimester: An MRI Study.","authors":"Ke Zheng, Minjie Lin, Bingbing Chen, Haiqing He","doi":"10.1002/pd.70198","DOIUrl":"10.1002/pd.70198","url":null,"abstract":"<p><strong>Objective: </strong>To investigate normal reference ranges for the maximum diameter and volume of the fetal large intestine across the second and third trimesters, and to analyze their correlations with gestational age (GA).</p><p><strong>Method: </strong>A single-center, retrospective analysis was conducted on fetal magnetic resonance imaging (MRI) data between 2019 and 2025 at a tertiary hospital in eastern China. We included second-to third-trimester fetuses without prenatal detection of gastrointestinal tract anomalies and with postnatal follow-up (at least 1 week) confirming normal intestinal function, including successful feeding and meconium passage. The maximum diameter and volume of the large intestine were measured, and their correlations with GA and abdominal circumference (AC) were analyzed. Gestational week-specific percentile reference ranges and regression equations for the maximum diameter and volume of the fetal large intestine relative to GA were established.</p><p><strong>Results: </strong>The large intestine was successfully measured in 387 fetuses. Both the maximum diameter and volume of the fetal large intestine increased with advancing GA and AC. The regression models based on the GA were as follows: large intestinal maximum diameter = 1.0274 × e^(0.0712×GA) (R² = 0.656, p < 0.01); large intestinal volume = 0.0002 × GA^3.501 (R² = 0.756, p < 0.01).</p><p><strong>Conclusion: </strong>This study provides normal reference ranges for the fetal large intestinal maximum diameter and volume from the second to the third trimester. The findings herein may contribute to improved differentiation between physiological and pathological intestinal changes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1345-1353"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal Brain Abnormalities Following Laser Surgery for Twin-to-Twin Transfusion Syndrome: Imaging Patterns and Evolution.","authors":"Yada Kunpalin, Elka Miller, Ingrid Larsen, Kamini Raghuram, Catherine Windrim, Nimrah Abbasi, Greg Ryan, Tim Van Mieghem, Shiri Shinar","doi":"10.1002/pd.70202","DOIUrl":"10.1002/pd.70202","url":null,"abstract":"<p><strong>Introduction: </strong>Severe brain injury has been reported following fetoscopic laser ablation (FLA) for twin-to-twin transfusion syndrome (TTTS), but imaging patterns and temporal evolution remain poorly defined. This study aimed to characterize the progression of severe brain injury after FLA.</p><p><strong>Methods: </strong>We conducted a retrospective case series of TTTS pregnancies with severe brain injury identified after FLA at the Ontario Fetal Center (June 2023-March 2025). FLA was performed for Quintero stage ≥ II and selected stage I cases. Severe abnormalities were defined as severe intraventricular haemorrhage or destructive lesions. Serial ultrasound and fetal MRI were reviewed and categorized as early (< 4 weeks) or late (≥ 4 weeks) post-FLA.</p><p><strong>Results: </strong>Fifteen fetuses from 14 pregnancies were identified. Mean gestational age at FLA was 19.7 ± 3.2 weeks; 66.7% were stage III-IV and 60% were donor twins. Early imaging (n = 8) most commonly showed periventricular haemorrhagic infarction (62.5%) and cerebellar haemorrhage (25.0%). Late imaging (n = 13) predominantly demonstrated cerebral volume loss (76.9%), often involving the parietal lobes, with polymicrogyria (38.5%) and Wallerian degeneration (30.8%). Findings remained unchanged after 4 weeks.</p><p><strong>Conclusion: </strong>Brain injury after FLA evolves from acute haemorrhagic/ischaemic insults to irreversible destructive changes. These preliminary findings suggest a consistent pattern of injury that warrants further prospective study.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1455-1467"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148302232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Diagnosis of PITX1-Related Limb Malformations in the Second Trimester.","authors":"Hong-Yu Luo, Ping Liu, Dong-Zhi Li","doi":"10.1002/pd.70207","DOIUrl":"10.1002/pd.70207","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1494-1497"},"PeriodicalIF":3.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148302707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}