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    Fetal diagnosis and therapy

    Fetal diagnosis and therapy

    JournalISSN 1015-3837eISSN 1421-9964中科院 医学 3区

    年发文量

    研究主题

    论文(3558)

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    1First-trimester Neurosonography of the Fetal Brain: when Visualization Outpaces Biological Interpretability.
    P. Macé, S. Meagher, Y. Dawood, E. Varvarigos, B. D. de Bakker, E. Quarello
    2026
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    2Spontaneous Regression of Fetal Torcular Sinus Thrombosis: A Case Report
    Anita Romiti, Francesca Turchiano, Simonetta Costa,Marta Bisanti, Riccardo Tudisco, Dario Tancredi, Chiara Pizzolante, Valentina Polsinelli,Amelia Spano,Matia Martucci,Giovanni Vento,Tullio Ghi

    Introduction: We report a rare case of fetal dural sinus thrombosis managed conservatively, resulting in a favorable neonatal outcome. Case presentation: At 21 weeks ' gestation, fetal ultrasound revealed an oval-shaped lesion in the occipito-parietal sulci of the right cerebral hemisphere, suspicious for sinus thrombosis. Torcular dural sinus malformations are rare vascular defects. They can occur during prenatal development and may lead to sinus thrombosis and poor prognosis. Mortality is reported to be around 22%, and survivors frequently present relics including motor and cognitive deficits, with a substantial reduction in postnatal quality of life. In this case report, we will follow the clinical evolution throughout pregnancy and the postnatal outcome. Conclusion: Partial or complete resolution of cerebral ultrasound abnormalities, combined with the absence of associated anomalies or fetal compromise, including cardiac failure, appear to predict a favorable outcome.

    2026
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    3Systematic Differences Between Ultrasound and MRI Assessment of Fetal Ventricular Width in Cases of Fetal Mild Ventriculomegaly: a Cohort Study
    Boyana Mikulska,Renata Jaczynska, Paulina Sobieraj-Binkiewicz,Magda Rybak-Krzyszkowska,Tomasz Maciejewski,Monika Bekiesinska-Figatowska

    Prenatal assessment of the lateral ventricles is essential for detecting and classifying fetal ventriculomegaly (VM). Although ultrasound (US) is the primary screening tool, magnetic resonance imaging (MRI) is increasingly used to complement diagnosis. However, discrepancies between US and MRI measurements, particularly in mild VM, may affect classification, counseling, and planning clinical management. The aim of the study is to compare US and MRI measurements of the fetal lateral ventricles, evaluate the agreement between both methods, with particular focus on mild ventriculomegaly, and additionally assess the feasibility of deriving conversion formulas between both modalities. Methods This cohort study included 120 fetuses examined between 2011 and 2021 at a referral center: 75 with isolated mild VM and 45 controls. All underwent a standardized US assessment and fetal MRI. Ventricular width was measured twice for each modality; mean values were used for statistical comparison. Analysis included Wilcoxon tests, Friedman tests, Bland–Altman plots, Pearson’s chi-square tests, Theil–Sen regression, and linear modeling. Results MRI systematically provided greater ventricular measurements than US. In the study group, the bias was 0.71mm for coronal MRI and 0.33mm for axial MRI. Agreement between methods was limited, with measurement discrepancies observed in 34% of cases (coronal) and 33.3% (axial). Combined analysis of both groups confirmed persistent measurement discrepancies, though the overall axial MRI bias decreased to 0.15mm. Theil–Sen modelling enabled the development of conversion formulas for both measurement planes. Conclusions MRI measurements of the fetal lateral ventricles tend to be slightly higher than ultrasound measurements, particularly in the coronal plane. These systematic differences may change the VM classification and should be considered in clinical interpretation. Ultrasound demonstrated better measurement reproducibility. The obtained formulas may support improved cross-modality comparison in clinical practice.

    2026
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    4Prenatal Fetoscopic Intervention for Gastroschisis: A Systematic Review of First Published Human Cases
    Maria Celidonio Gutfreund,Gustavo Yano Callado, Mariana Jeszensky Pitta, Luana Perrone Camilo,Javier Svetliza,Gregório Lorenzo Acacio

    Objective: To systematically identify and descriptively summarize the available published human evidence on prenatal fetoscopic intervention for gastroschisis, focusing on reported procedural characteristics, maternal-fetal events, neonatal outcomes, and limitations of the current literature. Methods: A systematic review was conducted according to PRISMA guidance, with protocol registration in PROSPERO (CRD420261338353). MEDLINE/PubMed, Embase, CINAHL, CENTRAL, Scopus, and Web of Science were searched from inception to March 2026. Studies including fetuses with prenatally diagnosed gastroschisis undergoing intrauterine intervention were eligible. Two reviewers independently screened studies, extracted data using a standardized form, and assessed reporting quality using the Joanna Briggs Institute checklist for case reports. Given the nature of the available evidence, synthesis was descriptive only. Results: Of 827 records identified, three single-patient case reports met the inclusion criteria. All described prenatal fetoscopic intervention for gastroschisis in highly specialized centers, with substantial heterogeneity in timing of intervention, uterine access, carbon dioxide insufflation, amniotic fluid management, closure technique, fetal monitoring, and postoperative surveillance. Initial intrauterine bowel reduction was reported in all three cases; however, one fetus developed postoperative bowel re-extrusion within 48 hours, associated with venous Doppler abnormalities, and required delivery followed by EXIT-like repair. All neonates survived, but the absence of comparators, extreme case selection, heterogeneous perioperative management, and likely publication bias preclude any inference regarding efficacy or neonatal benefit. Conclusions: Published human evidence on prenatal fetoscopic intervention for gastroschisis is limited to three isolated case reports. These reports describe procedural completion in highly selected cases managed at specialized fetal surgery centers, but they remain insufficient to determine the generalizable feasibility, safety profile, reproducibility, or clinical benefit of this approach compared with contemporary postnatal management. Prenatal repair should therefore remain investigational and should be evaluated within ethically approved prospective protocols with standardized selection criteria, maternal-fetal safety monitoring, operative reporting, and long-term follow-up.

    2026
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    5Radiofrequency Ablation for Selective Reduction in Complicated Monochorionic Twin Pregnancies: Pregnancy-Level and Neonatal Outcomes
    Edis Kahraman, Ahmet Tayyar, Mustafa Deveci, Mehmet Aytac Yuksel

    Introduction: Monochorionic twin pregnancies may be complicated by shared placental vascular anastomoses and hemodynamic interdependence between fetuses. Radiofrequency ablation (RFA) is a vaso-occlusive option for selective reduction when continuation of the affected fetus is expected to endanger the co-twin. Methods: This retrospective cohort study included 39 monochorionic twin pregnancies treated with RFA at two tertiary centers between January 2017 and December 2025. Indications were grouped as TTTS/TAPS-related conditions, selective fetal growth restriction (sFGR)-related conditions, twin reversed arterial perfusion (TRAP) sequence, and discordant major fetal anomaly. The primary outcome was live birth of at least one fetus. Secondary outcomes included miscarriage, stillbirth/intrauterine fetal demise, termination after RFA, preterm prelabor rupture of membranes (PPROM), gestational age at delivery, birth weight, neonatal intensive care unit (NICU) admission, neonatal death, and survival to neonatal hospital discharge. Results: The main indications were sFGR-related conditions (14/39, 35.9%) and TTTS/TAPS-related conditions (12/39, 30.8%). Live birth of at least one fetus occurred in 38/39 pregnancies (97.4%), and pregnancy-level survival to neonatal hospital discharge occurred in 37/39 pregnancies (94.9%). PPROM after RFA occurred in 2/39 pregnancies (5.1%). Among pregnancies with live birth, median gestational age at delivery was 38.00 weeks (IQR, 34.00-39.00). Exploratory comparisons across indication groups, including direct TTTS/TAPS-related versus TRAP comparisons for gestational age at delivery and procedure-to-delivery interval, were not statistically significant. Conclusion: RFA was associated with high rates of live birth and survival to neonatal hospital discharge in this cohort of complicated monochorionic twin pregnancies. Exploratory subgroup comparisons were not statistically significant; therefore, observed indication-specific patterns should be interpreted cautiously and require confirmation in larger multicenter cohorts.

    2026
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    高被引作者

    作者引用发文
    Kypros Nicolaides9430157
    Argyro Syngelaki341242
    Eduard Gratacos326890
    Liona Chiu Yee Poon253936
    Ranjit Akolekar252138
    Mark P. Johnson250785
    N. Scott Adzick213268
    Dick Oepkes178662
    Alan W. Flake169149
    Francesc Figueras160541

    高产作者

    作者引用发文
    Kypros Nicolaides9430157
    Mark I. Evans1518117
    Eduard Gratacos326890
    Mark P. Johnson250785
    N. Scott Adzick213268
    Dick Oepkes178662
    Jan Deprest149055
    Alan W. Flake169149
    Enrico Lopriore139744
    Argyro Syngelaki341242

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