Search Results (408)

Spina bifida (SB) is a congenital malformation of the central nervous system (CNS), resulting from incomplete closure of the neural tube (NT) during early embryogenesis. Myelomeningocele (MMC), the most severe form of SB, leads to progressive neurological, orthopedic, and urological dysfunctions due to both NT developmental failure and secondary intrauterine injury (“two-hit hypothesis”). Prenatal repair of MMC has progressed considerably since the Management of Myelomeningocele Study (MOMS, 2011) trial, which showed that open fetal surgery can decrease the need for shunting and improve motor function, although it carries significant maternal risks. To address these limitations, minimally invasive techniques have been developed, with the goal of achieving similar benefits for the fetus while reducing maternal morbidity. Recent research has shifted toward regenerative strategies, integrating mesenchymal stem cells (MSCs), bioengineered scaffolds, and cell-derived products to move beyond mere mechanical protection toward true NT repair. Preclinical studies in rodent and ovine models have shown that amniotic- and placenta-derived MSCs exert neuroprotective and immunomodulatory paracrine effects, promoting angiogenesis, modulating inflammation, and supporting tissue regeneration. Minimally invasive, cell-based interventions such as Transamniotic Stem Cell Therapy (TRASCET), in preclinical rodent models, offer the possibility of very early treatment without hysterotomy, although translation remains limited by the lack of large-animal validation and long-term safety data. In parallel, advances in biomaterials, nanostructured scaffolds, and exosome-based therapies reinforce a regenerative paradigm that may improve neurological outcomes and quality of life in affected children. Ongoing translational studies are essential to optimize these approaches and define their safety and efficacy in clinical settings. This review provides an integrated overview of embryological mechanisms, diagnostic strategies, and prenatal therapeutic advances in SB treatment, with emphasis on prenatal repair, fetal surgery and emerging regenerative approaches. Full article

Background/Objectives: The first 1000 days of life represent a critical window for growth and neurodevelopment, during which nutrition strongly influences brain development and metabolic programming. In phenylketonuria (PKU), dietary management is essential to prevent neurological impairment and later-life risk of non-communicable diseases (NCDs). This review examines current evidence on PKU from pregnancy through complementary feeding, highlighting the impact of nutritional strategies on neurodevelopmental and metabolic outcomes. Methods: This narrative review, following PRISMA guidelines, used a systematic search of PubMed and Scopus with defined PICO questions. Original research, reviews, and guidelines on PKU nutrition during the first 1000 days were included, emphasizing neurological and metabolic outcomes. Results: Articles addressed prenatal and postnatal factors in PKU. Optimised metabolic control in women with PKU is critical to prevent maternal PKU syndrome, reducing risks of miscarriage, congenital heart defects, microcephaly, and neurocognitive impairment. Pre-conception dietary management, frequent blood Phe monitoring, supplementation with Phe-free protein substitutes (PSs), micronutrients, and emerging pharmacological therapies support maternal and foetal health. Following newborn screening, early dietary treatment in infants with PKU maintains plasma Phe within safe ranges, promoting growth and neurodevelopment. Breastfeeding, combined with Phe-free infant PSs, is feasible, and complementary feeding should be introduced carefully. Frequent monitoring and tailored dietary adjustments, including second-stage PSs, support metabolic control, while data on gut microbiota remain limited. Conclusions: Early multidisciplinary interventions are crucial to optimise metabolic and neurodevelopmental outcomes during this window of opportunity. Further research is needed to address remaining gaps and optimise PKU management across the first 1000 days. Full article

Background: Obesity during pregnancy increases the risk of adverse maternal and neonatal outcomes, and excessive gestational weight gain (GWG) remains highly prevalent worldwide. Although physical activity (PA) interventions have shown potential benefits, evidence on the optimal type, intensity, and duration of exercise for overweight or obese pregnant women remains limited. Methods: Electronic searches of EBSCOhost, Embase, PubMed and Web of Science were performed through August 2025 to identify randomized controlled trials comparing PA interventions versus usual prenatal care in overweight or obese pregnant women. Two reviewers independently screened studies, extracted data, and assessed risk of bias using Cochrane ROB domains. Continuous outcomes were pooled using inverse-variance meta-analytic methods and heterogeneity was quantified by I². Results: Ten randomized trials (twelve intervention arms) comprising 1150 participants met the inclusion criteria. In the domain of blinding of participants and personnel, three studies (30%) were judged as low risk, while seven (70%) were unclear. PA interventions varied in modality (aerobic, resistance, endurance, walking), setting (clinic, community, home/mHealth), and the intervention period ranges from 10 to 34 weeks. Most interventions (80%) employed moderate intensity, and 30% combined aerobic and resistance training. Results of the meta-analysis showed that the pooled mean GWG was 9.93 ± 5.48 kg in the treatment group and 10.65 ± 5.70 kg in the control group. Overall, PA interventions produced a modest but statistically significant reduction in GWG compared with controls, with negligible between-study heterogeneity (I² = 0%). Conclusions: Tailored, moderate-intensity PA may have the potential to modestly reduce GWG. Although 30% included trials employed combined aerobic and resistance training, current evidence is insufficient to establish whether combined modalities are more effective than aerobic-only or resistance-only interventions. However, the current evidence is limited by small trial sizes, methodological variability and geographic concentration in higher-income settings. Larger, rigorously designed RCTs, including evaluations of digital delivery platforms and carefully supervised higher-intensity protocols, are needed to refine exercise prescriptions and inform clinical guidelines. Full article

Congenital toxoplasmosis presents with a wide clinical spectrum, ranging from asymptomatic infection to severe disease with multi-organ failure. We report a rare fatal case of disseminated congenital toxoplasmosis in a human neonate. The infant initially had thrombocytopenia and mild hepatitis, which rapidly progressed to fulminant liver failure. Despite initiation of standard therapy with pyrimethamine, sulfadiazine, and folinic acid on postnatal day 25, the infant died two days later. Autopsy revealed widespread involvement of the liver, spleen, brain, heart, lungs, urinary bladder, and skeletal muscle. To further characterize the infection, genomic sequencing of the isolate (TgHsUS2) was performed, which placed it within clade C (Haplogroup 9) and closely related to reference strains P89 and TgCatBr3. Variant analysis showed type III-like alleles in ROP18, ROP16, and GRA15. These alleles are known to modulate host immunity and may have influenced disease severity in this case. This report highlights the need for rapid recognition and targeted therapy as well as how strain genomics can inform disease mechanisms. Prevention through prenatal screening and maternal treatment during pregnancy may reduce infant mortality. Full article

Chikungunya virus (CHIKV) infection during pregnancy represents an increasing public health concern, especially in endemic and epidemic regions. The main concern is vertical transmission, particularly during the peripartum period, which can lead to severe neonatal outcomes such as encephalopathy, hematologic abnormalities, and long-term neurodevelopmental impairment. This review synthesizes current knowledge on pathophysiology, clinical manifestations, diagnosis, maternal and neonatal outcomes, and management of CHIKV infection in pregnancy. Diagnosis relies on clinical evaluation supported by laboratory confirmation, RT-PCR in the acute phase and IgM serology thereafter. Treatment is supportive, using acetaminophen as first-line therapy and corticosteroids for selected refractory cases. No antivirals or vaccines are approved for use in pregnancy as of 2025. Prevention is centered on vector control, personal protection, and epidemiological surveillance. Delivery planning and neonatal monitoring are essential when infection occurs close to term due to the high risk of peripartum transmission. Despite growing recognition of CHIKV’s maternal–fetal impact, significant gaps remain regarding long-term outcomes and optimal management strategies. Strengthening prenatal care, neonatal preparedness, and surveillance systems is crucial to mitigate adverse outcomes and inform future clinical and public health policies. Full article

Background/Objectives: Myomectomy is the preferred treatment for women with uterine fibroids who desire to preserve their fertility. This study aimed to compare perinatal outcomes between Mexican women with and without a history of myomectomy, matched in a 1:2 ratio based on maternal age and parity. Methods: A retrospective cohort study was conducted involving women with and without a history of myomectomy who received prenatal care and delivered at a tertiary care hospital in Mexico City. Women with comorbidities such as pregestational diabetes, chronic hypertension, autoimmune diseases, nephropathy, cardiomyopathy, and cancer were excluded from the study. Group 1 consisted of women with a history of myomectomy, and Group 2 included matched women without such a history. The following perinatal outcomes were evaluated: miscarriage, preterm birth, cesarean section, obstetric hemorrhage, placenta previa, surgical adhesions, and obstetric hysterectomy. Adjusted relative risk (aRR) with 95% confidence intervals (CI) was calculated. Results: A total of 122 women were analyzed in group 1, and 244 in group 2. The risk of obstetric hemorrhage aRR 7.5 (95% CI 3.9–11.9), surgical adhesions aRR 11.8 (5.3–20.7), and placenta accreta aRR 15.3 (1.3–111) were significantly higher in Group 1 compared to Group 2. Other outcomes, including miscarriage, preterm birth, cesarean section, placenta previa, and obstetric hysterectomy, were similar between groups. Conclusions: Mexican pregnant women with a history of myomectomy have a higher risk of obstetric hemorrhage, surgical adhesions, and placenta accreta compared to those without such a history. Full article

Implementation of universal antiretroviral treatment (ART) in pregnancy has improved maternal health and reduced vertical transmission. However, women living with HIV (WLHIV) still experience worse perinatal outcomes. This retrospective study compared demographic, virological factors, ART regimens and perinatal outcomes in pregnant WLHIV between 2000–2010 (n = 318) and 2011–2021 (n = 140) at a tertiary center in Barcelona. Significant demographic shifts included changes in ethnic distribution, substance use, educational attainment, and maternal BMI. Significant progress in infection control was observed, with increased ART coverage up to 97%, improved viral suppression (80% to 91.3%, p = 0.002), and enhanced immunological status. ART regimens shifted significantly, with an increase in integrase strand transfer inhibitors (INSTI)-based regimens (0.7% to 39.2%, p < 0.001). Obstetric management evolved, with a rise in vaginal deliveries (24.8% to 44.3%, p < 0.001) and a decline in intrapartum zidovudine (93.7% to 54.7%, p < 0.001). Notably, preterm birth rates sharply declined, yet small-for-gestational-age (SGA) infants (26.4% vs. 20%, p = 0.323) and preeclampsia rates remained unchanged and higher than in the general population. All statistical analyses were performed in IBM SPSS statistics 23. In conclusion, although maternal and perinatal outcomes in pregnant WLHIV have improved over the past two decades, a high rate of adverse perinatal outcomes related to placental dysfunction (SGA, preeclampsia) persist. Our findings highlight the need for optimized prenatal care and further research to develop targeted interventions for WLHIV. Full article

Background/Objectives: Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of infancy, often complicated by Kasabach–Merritt phenomenon (KMP), a consumptive coagulopathy characterized by severe thrombocytopenia and hypofibrinogenemia. Airway involvement at birth is exceptionally rare and can be life-threatening. This study reports the clinical presentation and treatment course of a full-term male neonate with severe airway obstruction caused by KHE with KMP. Case Presentation: The patient had unremarkable prenatal imaging but presented at birth with severe respiratory distress requiring emergent intubation. Physical examination revealed firm violaceous swelling over the right cervicothoracic region. Laboratory tests showed profound thrombocytopenia (22,000/μL), hypofibrinogenemia (75 mg/dL), and coagulopathy. Imaging findings were consistent with KHE complicated by KMP. Due to bleeding risk, the biopsy was not performed. Initial treatment included platelet and plasma transfusions, intravenous immunoglobulin (IVIG), corticosteroids, and antithrombin III replacement. Vincristine was discontinued owing to gastrointestinal toxicity. Sirolimus therapy was initiated on day 14. Following sirolimus initiation, rapid platelet recovery was observed. At three months, marked tumor regression was documented. After mild recurrence, sirolimus was reintroduced, and the patient remained stable at 16-month follow-up. Conclusions: This case underscores the critical importance of prompt airway stabilization, early recognition of consumptive coagulopathy, and sirolimus-based therapy in managing neonatal KHE with airway involvement. Full article

Assisted reproductive technologies (ARTs) have revolutionized infertility treatment, leading to the birth of over 10 million children worldwide. Despite their success, increasing concerns have been expressed regarding the potential long-term outcomes of ART-conceived individuals, particularly in relation to imprinting disorders (IDs). IDs result from the abnormal expression of imprinted genes, which are expressed in a parent-of-origin-specific manner and regulated by epigenetic mechanisms (e.g., DNA methylation). Disruption of these processes, through environmental, genetic, or procedural factors, can lead to disorders such as Beckwith–Wiedemann syndrome (BWS), Silver–Russell syndrome (SRS), Angelman syndrome (AS), and Prader–Willi syndrome (PWS). These syndromes are characterized by distinct clinical features, including growth abnormalities, neurodevelopmental delay, endocrine dysfunction, and cancer predisposition. ART procedures, especially ovarian hyperstimulation, in vitro fertilization (IVF), and embryo culture, coincide with critical periods of epigenetic reprogramming and may contribute to epimutations in imprinting control regions. In this review, we explored epidemiology, molecular mechanisms, and prenatal diagnostic strategies related to these four IDs in the context of ART. The findings suggest a higher prevalence of BWS and SRS in ART-conceived children. The data regarding AS and PWS are more controversial, with conflicting results across populations and methodologies. Although a causal link between ART and IDs remains debated, evidence suggests the potential contribution of ART procedures to epigenetic dysregulation in susceptible individuals. Further large-scale, methodologically rigorous studies will be essential to clarify this association and inform safer ART practices. Full article

Background and Objectives: Primary vesicoureteral reflux (VUR) is a common pediatric urological disorder that can lead to significant renal morbidity if undetected or improperly managed. Ultrasound (US) plays a pivotal role in its assessment, providing a radiation-free tool to prenatal assessment, diagnosis, treatment, and long-term follow-up. This study aims to systematically review the literature on the use of US in pediatric primary VUR, emphasizing its applications in prenatal and postnatal diagnosis, intraoperative guidance, and follow-up monitoring. Methods: A systematic review of the literature was performed on PubMed in accordance with PRISMA guidelines. The research strategy used the following keywords: Ultrasound Vesicoureteral reflux, VUR Ultrasound, and VUR Sonography. A total of 2222 records were initially identified. After screening titles and abstracts for relevance, 2165 studies were excluded because they did not focus on ultrasound procedures, did not specify age limits, were redundant, involved non-homogeneous populations, or were unavailable in full text. Results: Prenatal US enables early identification of urinary tract anomalies suggestive of VUR, facilitating targeted postnatal evaluation. Postnatally, contrast-enhanced voiding ultrasound (CEVUS) offers a non-ionizing method for VUR confirmation or exclusion. Intraoperatively, US improves the accuracy and efficacy of bulking agent placement, potentially enhancing surgical outcomes. In follow-up, US remains essential for both conservatively managed and surgically treated patients, enabling timely detection of complications or recurrence. Conclusions: Ultrasound represents a useful tool in the management of pediatric primary VUR, applicable across all clinical stages, avoiding radiation exposure, and improving surgical effectiveness and follow-up management. Full article

Background: Polypoid endometriosis is a rare variant of endometriosis that presents as a tumorous mass, making it difficult to differentiate it from a malignant tumor. It usually occurs in perimenopausal women or those undergoing hormone therapy, and its presence in a young pregnant woman is extremely uncommon. Case Presentation: This article describes a rare instance of polypoid ovarian endometriosis in a pregnant woman, a condition with few documented cases in the medical literature. An adnexal mass was discovered incidentally during a routine prenatal ultrasound, with imaging features that raised the suspicion of a neoplastic process and prompted surgery to exclude malignancy. However, histopathological examination of the excised lesion confirmed features compatible with polypoid endometriosis, without revealing evidence of cancer. This case highlights the diagnostic challenges of differentiating polypoid endometriosis from ovarian neoplasms, especially during gestation, where imaging findings can be ambiguous. In addition, the hormonal environment inherent in pregnancy may exacerbate the proliferative behavior of endometriotic lesions, thus complicating clinical evaluations. The presence of an adnexal mass in such a setting often requires careful evaluation to balance the risks of surgery with the potential consequences of delayed diagnosis. The data presented emphasize the importance of an accurate diagnosis. In conclusion, a well-coordinated approach ensures the protection of maternal and fetal health. Conclusions: By prioritizing accurate diagnosis and personalized treatment plans, physicians can minimize complications and improve outcomes for both mother and child. Full article

Background/Objectives: In Brazil, nearly universal access to prenatal care coexists with ongoing negative fetal and infant outcomes. This review explores how the adequacy of prenatal care affects maternal, fetal, and child health, and highlights recurring gaps in service delivery. Methods: A narrative review of Brazilian studies published between 2018 and 2024 was conducted through the Virtual Health Library and PubMed. The initial search (July 2024) was updated in February 2025, and two reviewers independently screened and extracted data, synthesizing clinical outcomes from the findings. Results: A total of thirty-six studies were included in the review. Inadequate prenatal care was consistently linked to higher rates of infant and neonatal mortality, prematurity, low birth weight, congenital syphilis, and neonatal near misses. The studies indicated that counting visits alone does not adequately reflect the quality of care: when evaluated against the Prenatal and Birth Humanization Program (PHPN), most studies met only one of the eight minimum criteria. Common shortcomings included late initiation of care, incomplete diagnostic testing, fragmented follow-up, and insufficient treatment for partners regarding sexually transmitted infections. Conclusions: Adverse outcomes persist in Brazil not due to a lack of access, but rather due to deficiencies in the content and continuity of prenatal care. To improve perinatal outcomes, it is essential to strengthen care through standardized, multidimensional indicators and integrated strategies that combine clinical, educational, and psychosocial support. Full article

Congenital heart disease (CHD), the most prevalent congenital abnormality, is becoming increasingly acknowledged as a component of a broad fetoplacental pathology. This systematic review summarizes recent imaging-based data linking CHD to quantifiable placental abnormalities. In CHD pregnancies, placenta studies consistently show patterns of altered vascularization, decreased volumetric growth, microstructural heterogeneity, and impaired placental oxygenation. We conducted a thorough literature search from January 2020 to May 2025 to identify studies on placenta function and structure in CHD-affected pregnancies. The included studies primarily utilized MRI and Doppler methods, as well as some modern modalities. Seven studies were included in this review. Placental imaging reveals consistent structural and functional abnormalities in pregnancies affected by congenital heart disease, indicating some possible contribution of the placenta in CHD pathophysiology. Placental imaging may improve outcomes in this susceptible group of pregnancies, improve risk assessment, and direct surveillance when incorporated into prenatal care for congenital heart disease. Future research should concentrate on lesion-specific analysis, longitudinal imaging, and placenta–heart axis-targeting treatment therapies. Full article

Substance use during pregnancy is an increasingly important yet under-recognized threat to maternal and child health. This narrative review synthesizes the current evidence available on the epidemiology, pathophysiology, clinical management, and policy landscape of prenatal exposure to alcohol, tobacco, opioids, benzodiazepines, cocaine, cannabis, methamphetamines, and other synthetic drugs. All major psychoactive substances readily cross the placenta and can remain detectable in breast milk, leading to a shared cascade of obstetric complications (hypertensive disorders, placental abruption, pre-term labor), fetal consequences (growth restriction, structural malformations), and neonatal morbidities such as neonatal abstinence syndrome and sudden infant death. Mechanistically, trans-placental diffusion, oxidative stress, inflammatory signaling, and placental vascular dysfunction converge to disrupt critical neuro- and cardiovascular developmental windows. Early identification hinges on the combined use of validated screening questionnaires (4 P’s Plus, CRAFFT, T-ACE, AUDIT-C, TWEAK) and matrix-specific biomarkers (PEth, EtG, FAEE, CDT), while effective treatment requires integrated obstetric, addiction, and mental health services. Medication for opioid use disorders, particularly buprenorphine, alone or with naloxone, confers superior neonatal outcomes compared to methadone and underscores the value of harm-reducing non-punitive care models. Public-health strategies, such as Mexico’s “first 1 000 days” framework, wrap-around clinics, and home-visiting programs, demonstrate the potential of multisectoral interventions, but are hampered by structural inequities and punitive legislation that deter care-seeking. Research gaps persist in polysubstance exposure, culturally tailored therapies, and long-term neurodevelopmental trajectories. Multigenerational, omics-enabled cohorts, and digital longitudinal-care platforms represent promising avenues for closing these gaps and informing truly preventive perinatal health policies. Full article

Background: Hepatitis presents a major health and economic challenge in Saudi Arabia, necessitating insight into its epidemiology, risk factors, and control measures. This review aims to synthesize current evidence on the epidemiology, risk factors, and prevention strategies for viral hepatitis in Saudi Arabia. It evaluates the effectiveness of existing interventions and proposes data-driven approaches to advance national hepatitis elimination goals. Methods: This study reviewed data from 2016 to 2024, sourced from PubMed, Google Scholar, ResearchGate, and ScienceDirect, focusing on hepatitis epidemiology and prevention in Saudi Arabia. Studies relevant to Saudi-specific trends and prevention strategies were included. Results: Saudi Arabia has achieved significant reductions in viral hepatitis prevalence, notably HBV (1.3%) due to universal infant vaccination (98% coverage), and HCV (0.124%) through the Saudi National Hepatitis Program (SNHP), which provides free DAAs (95% cure rate) and has screened 5 million people. However, challenges persist: HAV susceptibility is rising in adults (seroprevalence 33.1%), HDV affects 7.7% of HBV patients, and key risk factors include socioeconomic disparities (higher HAV/HEV in rural/low-income areas), intravenous drug use (30–50% of HCV cases), unsafe medical/cultural practices (e.g., Hijama), and limited healthcare access for migrants/rural populations. While interventions like water sanitation initiatives (58% HAV decline) and prenatal screening are effective, advancing elimination goals requires addressing gaps in HDV/HEV surveillance, outdated seroprevalence data, equitable treatment access (35% lower in rural areas), stigma reduction, and targeted strategies for high-risk groups to meet WHO 2030 targets. Conclusions: Saudi Arabia has made significant progress in hepatitis control through vaccination and public health efforts, but challenges persist. Strengthening healthcare systems, improving community engagement, and ensuring equitable access are key to sustaining elimination efforts. Full article