Isabella Fabietti

Prenatal Elexacaftor/Tezacaftor/Ivacaftor for Fetal Meconium Ileus: First Italian Case and Narrative Overview of the Emerging Evidence

Alessandra Boni, Chiara Vassallo, Fabiana Ciciriello, Luca Cristiani et autres

Introduction: Cystic fibrosis (CF) frequently presents prenatally with meconium ileus (MI), a condition associated with significant neonatal morbidity and long-term gastrointestinal complications. The advent of highly effective CFTR modulators, particularly elexacaftor/tezacaftor/ivacaftor (ETI), during pregnancy remains off-label, and their role as in utero …

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Prenatal Elexacaftor/Tezacaftor/Ivacaftor for Fetal Meconium Ileus: First Italian Case and Narrative Review of the Emerging Evidence

Alessandra Boni, Chiara Vassallo, Fabiana Ciciriello, Luca Cristiani et autres

Introduction: Cystic fibrosis (CF) frequently presents prenatally with meconium ileus (MI), a condition associated with significant neonatal morbidity and long-term gastro-intestinal complications. The advent of highly effective CFTR modulators, particularly elexacaftor/tezacaftor/ivacaftor (ETI), during pregnancy remains off-label, and their role as in-utero therapy …

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Derivation, expansion and cryopreservation of primary fetal organoids from second and third trimester human amniotic fluid cells

Giuseppe Calà, Giorgia D'Ariano, Kylin Yunyan Sun, Giuseppe Matteo Carrino et autres

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Non‐Isolated Congenital Diaphragmatic Hernia. Can We Think of a Beacon of Hope?

Isabella Fabietti, Chiara Vassallo, Milena Viggiano, Leonardo Caforio et autres

BACKGROUND: The TOTAL Trial demonstrated the efficacy and safety of prenatal treatment of isolated severe left Congenital Diaphragmatic Hernia (CDH). Since this trial was completed, the application of the fetal approach in selected non-isolated CDH cases has become a daily clinical and …

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Strong heart, fit brain. Cardiac impact on brain development in fetuses with congenital diaphragmatic hernia: a prospective cohort study

Isabella Fabietti, Chiara Vassallo, Milena Viggiano, Anna Claudia Massolo et autres

Purpose: CDH fetuses may present with abnormal brain volume and cerebral fissures. Since cardiac function and size may also be altered, we hypothesized that abnormal cardiac function may contribute to the impaired brain development in these fetuses. The aim of this study …

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Key ultrasound predictors in the prenatal assessment of congenital pulmonary airway malformation: a single-center experience

Isabella Fabietti, Alice Novak, Laura Valfrè, Chiara Vassallo et autres

Background This study assesses the sensitivity and specificity of congenital pulmonary airway malformation (CPAM) Volume Ratio (CVR) in predicting the need for fetal therapy (FT) and explores the role of additional ultrasound indicators, including the Observed/Expected Lung to Head Ratio (O/E LHR) …

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P815: Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: First large-scale clinical validation study results

Francesca Romana Grati, Tamara Stampalija, Claudio Forcato, Paolo Volpe et autres

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OP04.03: Placental vascular malperfusion in fetuses with congenital heart diseases: distinction based on pathophysiology

A. Toscano, Marco Colucci, Marco Masci, Alessandra Stracuzzi et autres

Literature suggests a correlation between placental malperfusion (PM) and CHD, highlighting the importance of this relationship for early diagnosis, monitoring, and management of CHD. Therefore, our aim was to characterise placental anomalies in pregnancies complicated by CHD. From March 2021 to October …

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OC06.01: Single cell sequencing of circulating extravillous trophoblasts for non‐invasive fetal copy number variant screening

Francesca Romana Grati, T. Stampalija, Emma Bertucci, Claudia Izzi et autres

Pathogenic microdeletions/duplications (pCNVs) account for a significant perinatal morbidity/mortality and have a 1/100-200 prevalence in the general prenatal population. Cell-free DNA non-invasive testing (cfNIPT) shows significant limitations for comprehensive profiling of pCNVs <7Mb in size. A proof-of-concept study demonstrated the feasibility of …

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Brain cortical assessment by MRI in fetuses with left congenital diaphragmatic hernia

Isabella Fabietti, Giulia Grassini, Sara Savelli, Roberta Vicario et autres

OBJECTIVE: To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia). METHODS: 52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter-BPD, brain fronto-occipital diameter-BFOD, third ventricle, posterior ventricles, transcerebellar diameter-TCD, …

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Using IOTA terminology to evaluate fetal ovarian cysts: analysis of 51 cysts over 10‐year period

A. Romiti, F. Moro, Luisa Ricci, Claudia Codecà et autres

OBJECTIVES: To describe ultrasound features of fetal ovarian cysts as reported by the original ultrasound examiner, to apply International Ovarian Tumor Analysis (IOTA) terminology after retrospective analysis of the images and to describe patient management and evolution of fetal cysts during pregnancy …

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EP26.05: Prenatal and neonatal outcomes of hyperechogenic fetal bowel: report on 184 prenatal cases

Laura Valfrè, Andrea Conforti, A. Romiti, Milena Viggiano et autres

Fate of patients with prenatally diagnosed hyperechogenic bowel (HB) is poorly explored. Aim of present study was to investigate prenatal and perinatal outcomes of fetuses diagnosed with HB. This is a prospective study of all fetal HB cases evaluated in a tertiary …

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