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Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm
(Frontiers Media SA, 2025)
Martinez-Garcia, Alfonso
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Tirado-Aguilar, Omar A.
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Acevedo-Gallegos, Sandra
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Gallardo-Gaona, Juan M.
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Velazquez-Torres, Berenice
Certain types of fetal cardiac rhabdomyomas can lead to severe complications, including intrauterine death, yet no specific criteria have been established for the prenatal use of pharmacological therapies to mitigate the impact of rhabdomyomas. We conducted a narrative review of case reports and case series published between January 1, 2000, and February 28, 2025, identified through PubMed, Scopus, Web of Science, and Google Scholar, describing the prenatal use of mammalian target of rapamycin inhibitors in this context. Thirteen studies reporting on 15 fetuses were included. Five fetuses (33.3%) had a single rhabdomyoma, and 10 (66.6%) had multiple lesions. Prenatal genetic testing for Tuberous Sclerosis Complex was performed in 9 cases (60%): 1 with a TSC1 mutation, 7 with TSC2 mutations, and 1 negative. Sirolimus was the most frequently used inhibitor (86.6%), while everolimus was used in 2 cases (13.3%). The main indication for treatment was progressive tumor growth causing outflow obstruction and/or hemodynamic compromise, including reduced cardiac output, arrhythmias, and fetal hydrops. Therapy was initiated at a median of 30.0 weeks (IQR 26.7–33.1) and completed at 38.0 weeks (IQR 36–39). All reports documented tumor reduction and improved cardiac function, though regrowth occurred in 5 cases (33.3%) after discontinuation. No fetal or neonatal deaths were reported, and none required postnatal cardiac surgery before discharge. Based on these findings, we proposed echocardiographic criteria to identify suitable candidates, including inflow/outflow tract obstruction, severe atrioventricular valve insufficiency, tachyarrhythmia, impaired cardiac function, or hydrops, and developed a structured prenatal management algorithm. Prenatal therapy with mTOR inhibitors, therefore, appears to improve fetal cardiac function by reducing tumor burden and may contribute to better perinatal outcomes, although validation in future studies is required. TSC1: urn:lsid:hgnc.org: HGNC:12362 TSC2: urn:lsid:hgnc.org: HGNC:12363 Sirolimus: urn:lsid:ebi.ac.uk:chebi:9168 Everolimus: urn:lsid:ebi.ac.uk:chebi:68478. ©The authors ©Frontiers Media SA.
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Survival assessment in extremely preterm neonates in a middle-income setting
(Frontiers Media SA, 2025)
Rodriguez-Sibaja, Maria J.
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Herrera-Ortega, Olivo
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Lumbreras-Márquez, Mario Isaac
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Morales-Barquet, Deneb
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Acevedo-Gallegos, Sandra
Introduction: Globally, an estimated 15.1 million preterm neonates are born annually, with 1% classified as extremely preterm (i.e., <28.0 weeks of gestation). The survival and outcomes of this vulnerable population are influenced by multiple factors, particularly gestational age, birth weight, and available medical resources. This study aimed to describe the hospital discharge survival of extremely preterm infants born in a middle-income setting. As a secondary objective, we assessed the neonatal morbidity associated with this group.Material and methods: In this cross-sectional study of singleton pregnancies, neonatal survival following extremely preterm birth was determined using three different denominators and expressed as prevalence (i.e., percentages): (1) the total number of extremely preterm births, including intrapartum fetal deaths; (2) the total number of all live births, including neonatal deaths in the delivery room, and (3) the total number of preterm neonates admitted to the neonatal intensive care unit (NICU). Neonatal morbidity was assessed as a secondary outcome.Results: There were no live births between 22.0 and 23.6 weeks of gestation. Overall mortality decreased with increasing gestational age, from 100% (22/22) at <24.0 weeks of gestation to 87% (14/16), 42% (16/38), and 21% (11/52) at a gestational age of 25, 26, and 27 weeks, respectively. The survival rate to NICU discharge among extremely preterm infants was 49% (65/132), 67% (65/97), and 69% (65/93), depending on whether survival was calculated based on all births, all live births, or NICU admissions, respectively. None of the neonates born before 24.6 weeks of gestation survived to discharge. Notably, 97.0% of NICU survivors were diagnosed with major morbidity.Conclusion: The survival rate at NICU discharge exceeds 50% from 26 weeks onwards in a middle-income setting. Importantly, survival rates varied significantly depending on the denominator used, highlighting the need to carefully select inclusion criteria in neonatal survival analyses. Notably, survival after extremely preterm birth was associated with significant morbidity. ©The authors ©Frontiers in Pediatrics.
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Abdominal circumference growth velocity as a predictor of adverse perinatal outcomes in small-for-gestational-age fetuses
(2023)
Rodriguez-Sibaja, Maria J.
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Villa-Cueva, Alejandra
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Ochoa-Padilla, Maria
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Rodriguez-Montenegro, Maria S.
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Lumbreras-Márquez, Mario Isaac
Objective: To assess the predictive value of abdominal circumference growth velocity (ACGV) between the second and third trimesters to predict adverse perinatal outcomes in a cohort of small-for-gestational-age fetuses without evidence of placental insufficiency (i.e. fetal growth restriction). Material and methods: This is a single-center retrospective cohort study of all singleton pregnancies with small-for-gestational-age fetuses diagnosed and delivered at a quaternary institution. Crude and adjusted odds ratios (ORs) and corresponding confidence intervals (CIs) were calculated via logistic regression models to assess the potential association between abnormal ACGV (i.e. ≤10th centile) and adverse perinatal outcomes defined as a composite outcome (i.e. umbilical artery pH <7.1, 5-min Apgar score <7, admission to the neonatal intensive care unit, hypoglycemia, intrapartum fetal distress requiring expedited delivery, and perinatal death). Furthermore, the area under the receiver-operating characteristic curve (AUC) of three logistic regression models based on estimated fetal weight and ACGV for predicting the composite outcome is also reported.
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