Search Results (1,345)

Background: Congenital tracheal stenosis (CTS) caused by complete tracheal rings and absence of the pars membranacea is rare and potentially lethal in infancy. Agenesis or hypoplasia of the medullary arcuate nucleus (ARC), a chemosensitive component of the ventral medullary surface, has been implicated in disordered respiratory control in sudden perinatal and infant deaths. The coexistence of these two abnormalities is uncommon. Case: A 2-month-old male infant, apparently healthy, was found unresponsive on his parents’ bed in the early morning. The pregnancy was uncomplicated, aside from maternal obesity and tobacco use. Given a context compatible with either sudden natural death or accidental overlay/suffocation, a full forensic autopsy was ordered. An external examination showed diffuse cyanosis and minor superficial abrasions without significant trauma. An internal examination revealed heavy, congested lungs with petechiae and cerebral edema. The heart and great vessels were anatomically normal, and the ductus arteriosus was closed. Histological examination demonstrated congenital tracheal stenosis characterized by complete cartilaginous rings with absent pars membranacea and bilateral agenesis of the medullary arcuate nucleus. The overall findings supported an acute hypoxic–ischemic event during sleep. Conclusions: This case documents a rare, isolated CTS with complete rings and absent pars membranacea coexisting with bilateral ARC agenesis, providing a plausible organic substrate (“cum materia”) for sudden unexpected death in infancy (SUDI). It underscores the importance of standardized neuropathological examination with serial brainstem sections in SUDI investigations and of distinguishing explained SUDI from sudden infant death syndrome (SIDS), which remains unexplained after complete investigation (“sine materia”). Full article

Pregnancy is considered a unique immunological process in which contact between the maternal innate immune system and the placental allograft results in maternal tolerance to paternally derived antigens. A growing body of research indicates that interactions between non-classical placental Human Leukocyte Antigen (NCHLA) and receptors on decidual Natural Killer (dNK) cells from early implantation are crucial to this process. Preeclampsia (PE), one of the leading causes of maternal and fetal morbidity and mortality, is also considered an autoimmune process. Currently, there is no treatment for PE except delivery. Most adverse outcomes derive from delayed diagnosis, while newer preventative therapies significantly improve outcomes. An early predictor of PE would enable universal screening, detect and treat high-risk populations earlier, and improve outcomes. Recently, we discovered that high placental HLA-E and G expression occurs during early normal pregnancies, and that placental NCHLA expression differs in PE. Others described the HLA-E/G complex, a potent immunosuppressor of dNK. Interestingly, dNK cells were found to have memory-like properties in binding to HLA-G and HLA-E. The theory proposed is that the HLA-G complex plays a major role in the etiology of PE. In this narrative review, we examine the relevant literature and present our recent findings and those of others that suggest a screening model for PE. Full article

Background: Hypertensive disorders of pregnancy present a major global health challenge. Green nanotechnology offers a strategy to enhance the stability and efficacy of bioactive natural products. This study evaluated gold nanoparticles green-synthesized with Pfaffia glomerata extract (AuNPs-PG) against gestational hypertension and fetal complications in spontaneously hypertensive rats (SHRs). Methods: P. glomerata root extract was characterized by UHPLC-MS/MS. AuNPs-PG were green-synthesized with 2 mmol/L HAuCl₄ (1:5 v/v) at 40 °C and characterized by UV-Vis and DLS. Pregnant Wistar-Kyoto and SHRs were divided into naive, negative control (NC), amlodipine (5 mg/kg), and AuNPs-PG groups (0.03, 0.1, and 0.3 mg/kg) treated daily on gestational days 1–18 to evaluate maternal cardiovascular, renal, biochemical, and reproductive outcomes. Results: UHPLC-MS/MS identified 38 compounds. AuNPs-PG showed a plasmon band at 520–550 nm and 88.1 nm hydrodynamic diameter. In SHRs, 0.3 mg/kg AuNPs-PG reduced systolic blood pressure by 18.5% and mean arterial pressure by 15.4%, while mitigating vascular dysfunction by lowering phenylephrine vasoconstriction by 52.7% and boosting acetylcholine vasodilation by 239.3%. Treatment shortened QTc interval by 26.4%, normalized T-wave inversion, and restored renal excretion, increasing urinary volume by 75.0% and sodium by 94.2%. Furthermore, AuNPs-PG elevated placental growth factor by 180.9%, lowered malondialdehyde by 63.5%, and preserved placental histology. Consequently, mean fetal weight increased by 21.6%, implantation index by 50.5%, and offspring-to-mother ratio by 129.6%. Conclusions: AuNPs-PG (0.3 mg/kg) effectively mitigate maternal and fetal complications in gestational hypertension. Gold nanoparticles serve as nanocarriers, whereas surface-adsorbed phytochemicals drive the biological effects. Full article

Background/Objectives: The primary objective was to assess reference intervals for fetal Global Longitudinal Strain (GLS) using bidimensional speckle-tracking echocardiography (2D-STE), including only prospective studies specifically designed for this purpose. An additional objective was to evaluate studies’ methodological quality and reproducibility. Methods: This is a systematic review registered at PROSPERO (CRD420251038889). Five electronic databases (Web of Science, Scopus, MEDLINE/PubMed, EMBASE and LILACS) were searched, from inception to May 2025. Prospective studies specifically designed to establish 2D-STE GLS reference intervals in low-risk singleton pregnancies with normal fetuses were included. Data were independently extracted by two reviewers. Risk of bias was assessed using an adapted tool, including study design and statistical and reporting methods. Results: After the initial identification of 187 records, nine studies published between 2012 and 2025 were included. There was marked heterogeneity among the studies. Four articles achieved high-quality scores (>70%) and three of them reported similar left ventricular (LV) GLS at 24 weeks (−22%). Right ventricular absolute GLS values were slightly lower than LV numbers. Regression models for both ventricles showed GLS absolute values decreased with gestation across studies. The 2D-STE algorithm (endocardial versus myocardial) was the main source of discrepancy between studies. Conclusions: High-quality prospective studies show a consistent pattern of biventricular GLS variation with gestational age. However, technical heterogeneity, lack of standardization, operator subjectivity and vendor-specific algorithm differences currently limit the applicability of the method. Multicentric studies with large sample sizes, standardized protocols and artificial intelligence-assisted tools are needed to consolidate this technique. Full article

Nanomaterials are increasingly used in manufacturing, medicine, consumer products, and environmental technologies due to their unique physicochemical properties. Although these materials offer substantial technological and societal benefits, their widespread use has raised concerns about potential health risks. Of particular importance is exposure during pregnancy, as certain nanoparticles can cross the placental barrier and reach the developing embryo. Fetal tissues are highly sensitive to environmental insults, so maternal exposure to nanoparticles may disrupt normal development and increase the risk of abnormal pregnancy outcomes. This review examines the current understanding of nanoparticle-induced developmental toxicity, with a focus on the vulnerability of the maternal–fetal unit. We discuss the structure and function of the placental barrier and the mechanisms that enable nanoparticle transfer from mother to fetus. Particular attention is given to how nanoparticle characteristics, including size, shape, composition, and surface chemistry, influence biodistribution, placental transport, tissue accumulation, and toxicity. We summarize the major molecular and cellular mechanisms implicated in fetotoxicity, highlighting oxidative stress, apoptosis, autophagy, and DNA damage as recurring pathways identified across experimental studies. These interconnected processes contribute to placental dysfunction, impaired fetal growth, developmental abnormalities, and adverse pregnancy outcomes. We also compare findings across different classes of nanoparticles, including metal, metal oxide, carbon-based, and polymeric nanomaterials, identifying both shared toxicological mechanisms and material-specific effects. Evidence from animal models demonstrates that susceptibility varies according to nanoparticle properties, exposure conditions, and species, underscoring the complexity of nanoparticle–biological interactions and the limitations of extrapolating experimental findings directly to humans. Overall, the available evidence indicates that nanoparticle exposure during pregnancy represents a potential risk to fetal health, although important knowledge gaps remain regarding human exposure and long-term developmental outcomes. A better understanding of the mechanisms underlying nanoparticle-induced fetotoxicity is essential for improving human health risk assessment, refining experimental models, informing regulatory policies, and supporting the safe-by-design development of nanomaterials. Such knowledge will help ensure the responsible application of nanotechnology while minimizing potential risks during pregnancy. Finally, this review is distinguished by its integrated analysis of how the chemical characteristics of nanoparticles govern placental transfer and the mechanistic pathways of fetotoxicity across multiple nanomaterial classes, providing a unified framework that connects material properties with their potential for abnormal fetal development and adverse pregnancy outcomes. Full article

Background/Objectives: Termination of pregnancy (TOP) following a prenatal diagnosis of congenital heart disease (CHD) is a complex decision shaped by clinical, ethical, and psychosocial factors. This study evaluated the clinical factors associated with parental acceptance of TOP after prenatal diagnosis of CHD in a multidisciplinary counselling setting. Methods: This retrospective cohort study was conducted at a tertiary referral center where fetal CHD cases are evaluated in a multidisciplinary perinatology council. Pregnancies with a prenatal CHD diagnosis for which TOP was medically recommended between December 2023 and February 2026 were included. Maternal, fetal, and genetic data were analyzed. Cardiac severity was classified using the fetal cardiovascular disease severity scale. Because the cohort included only 62 pregnancies, a simplified multivariable logistic regression model with three clinically prespecified variables (four parameters: gestational age, cardiac severity, and genetic-evaluation status) was used to identify variables associated with termination acceptance. Results: Sixty-two pregnancies were included; 41 (66.1%) accepted termination and 21 (33.9%) continued the pregnancy. Maternal characteristics and gestational age at diagnosis were similar between groups. In the multivariable model, genetic-evaluation status was the only variable independently associated with termination acceptance. Compared with cases without genetic testing, both major chromosomal/pathogenic anomalies (aOR 4.97; 95% CI 1.29–19.11; p = 0.020) and a normal genetic-evaluation status (aOR 4.71; 95% CI 1.07–20.77; p = 0.041) were associated with higher termination acceptance. Cardiac severity and gestational age were not independently associated with parental decision. Conclusions: Genetic-evaluation status was associated with parental acceptance of termination after prenatal CHD diagnosis in a multidisciplinary counselling setting; given the small sample size and the selected, council-recommended cohort studied, this association should be interpreted as hypothesis-generating rather than as evidence of a causal or independent predictive effect. Full article

Pregnancy-related acute kidney injury (PR-AKI) increases the risk of chronic kidney disease (CKD) in the postpartum period, yet mechanisms driving this transition remain unclear. Uremic toxins, including indoxyl sulfate (IS), are implicated in AKI-to-CKD progression. Using a rat model of PR-AKI induced by ischemia–reperfusion on gestational day (GD) 18, we assessed IS contributions to renal injury in the postpartum. A subset of rats received the oral adsorbent AST-120 in the postpartum period to reduce IS. Additional groups received IS during pregnancy with or without AST-120 treatment in the postpartum period. Renal function, blood pressure, circulating and urinary IS concentrations, and renal histopathology were evaluated. PR-AKI resulted in sustained postpartum elevations in circulating (p = 0.03) and urinary (p < 0.03) IS, reduced urine output (p = 0.03), increased proteinuria (p < 0.0001), increased serum albumin, and increased renal fibrosis (p = 0.008) compared to normal pregnant control rats. Absorption of indole, a precursor for IS, significantly reduced urinary IS (p = 0.03), reduced serum creatinine (p = 0.006), and attenuated renal fibrosis (p = 0.002) in treated PR-AKI rats. While not significant, indole absorption improved urine output (p = 0.06) and reduced proteinuria (p = 0.07) in treated PR-AKI rats. IS administration during pregnancy recapitulated key features of postpartum CKD. Elevated IS contributes to persistent renal injury following PR-AKI. Postpartum reduction in IS with AST-120 dampens the progression of renal injury. These findings highlight uremic toxins as mechanistic drivers and potential therapeutic targets in post partum CKD following PR-AKI. Full article

Background: This review aims to systematically summarize the lineage origins, subtype classification, and functional dynamics of endometrial macrophages, clarify their mechanisms of action in normal reproductive physiology (menstrual cycle, pregnancy) and common reproductive diseases, integrate cognitive breakthroughs brought by cutting-edge research technologies, and provide theoretical support for basic research and clinical translation in reproductive medicine. Methods: Recent basic and clinical research studies related to endometrial macrophages were retrieved, with a focus on incorporating findings from technologies such as single-cell sequencing and multi-omics. The reviewed content covers core aspects including macrophage origins (embryonic-derived, bone marrow-derived), subtype classification (M1/M2 and novel metabolism-related subtypes), cycle- and pregnancy-specific functions, and disease-associated mechanisms. A comprehensive analysis of the regulatory networks of endometrial macrophages under physiological and pathological conditions was conducted. Results: Endometrial macrophages, by virtue of their phenotypic plasticity and functional heterogeneity, play a central role in cyclical endometrial remodeling, pregnancy establishment, and the regulation of reproductive immune homeostasis. Dysregulation of their function is closely associated with various reproductive disorders such as recurrent spontaneous abortion and endometriosis. In-depth exploration of their biological characteristics and regulatory mechanisms holds great significance for filling knowledge gaps in the field of reproductive immunology and advancing precise prevention and treatment of related diseases. Conclusions: Endometrial macrophages are core regulators of the reproductive immune microenvironment, and their spatiotemporal dynamic functions are closely linked to reproductive health. The revelation of novel classification systems and regulatory mechanisms provides new perspectives for in-depth understanding of reproductive physiological and pathological processes, as well as important targets for immune-targeted therapy of reproductive-related diseases. This holds great clinical translational significance for promoting the precision development of reproductive medicine. Full article

Determining progesterone concentration is currently considered the most reliable hormonal test for pregnancy detection in belugas. In other cetaceans, additional steroid hormones also serve as pregnancy biomarkers. Whether these hormones are useful for beluga pregnancy diagnosis is unknown. The objective of this study was to conduct circulating steroid hormone analysis across normal pregnancy and different reproductive states in the beluga. Serum samples (n = 240) collected from nine females representative of 20 pregnancies (1991–2017) were analyzed using immunoassays for progesterone, progestagens, estradiol, testosterone, androstenedione, and cortisol. Across pregnancy trimesters (early, mid, late), progesterone was highest during early and mid, and decreased slightly during late, but still maintained concentrations above pre- and post-pregnancy levels. Progestagens increased above luteal phase concentrations during early and continued to increase and remained elevated during mid and late. Estradiol and androstenedione increased during mid and late trimesters. Testosterone was higher at all stages of pregnancy (highest at mid and late) compared to other reproductive states. Across gestation, cortisol was only elevated during late pregnancy. The present study established pregnancy profiles for various steroid hormones during normal beluga pregnancy for animals under human care and identified other non-progestagen hormones that may possibly serve as gestational biomarkers in this species. Full article

Objectives: This study clarified sex-specific short- and long-term impacts of maternal excessive palm oil (plant-derived saturated) and lard (animal-derived saturated fat) intake on offspring reproductive health and underlying mechanisms. Methods: Female mice were randomized to control, palm oil, or lard diets during gestation and lactation. Offspring received a control diet post-weaning until adulthood, followed by an optional 16-week HFD rechallenge. Gonadal weight and organ index, sperm quality, ovarian follicle number, serum sex hormones, metabolic phenotypes (serum lipid profiles, glucose and insulin tolerance), oxidative stress, apoptosis, proliferation, and transcriptomic profiles were detected at weaning, early and late adulthood. Results: In males, excessive maternal lard intake significantly induces sperm malformation and reduces seminiferous tubule diameter and spermatogenic epithelium thickness upon HFD rechallenge during adulthood, with no changes in oxidative stress, proliferation, and apoptosis. Transcriptomics identified Slc24a5 upregulation as a potential correlate through metal ion transmembrane transporter activity and cellular calcium ion homeostasis. Under normal adult diets, reduced sperm motility resulting from maternal excess lard may be mediated by apoptosis, whereas that induced by maternal high palm oil likely arises from suppressed proliferation and thinner spermatogenic epithelium. GO analysis revealed palm oil-specific Ugt1a5 upregulation associated with altered steroid hormone metabolism. In females, maternal palm oil intake reduced primordial follicles and increased atresia, with sequencing predicted to involve Nedd4 downregulation; lard intake elevated ovarian oxidative stress and atresia only upon HFD rechallenge, with Lamc3 upregulation predicted as a putative regulatory factor. Conclusions: Maternal excessive intake of saturated fat exerts offspring reproductive damage in a sex-specific and source-dependent manner with distinct mechanisms. This work provides novel insights into fat source-dependent and sex-specific effects of nutritional interventions during pregnancy and lactation. Full article

Background: Thai obstetric nurses follow WHO gestational weight gain (GWG) guidelines to prevent gestational diabetes mellitus (GDM). However, these Western-derived guidelines misclassify approximately 16% of Thai pregnant women, who carry excess metabolic risk at lower BMI values than Western populations. Objectives: To derive and validate Thai-specific GWG targets using Thai BMI cut-points across five BMI subgroups and assess implications for nursing practice in GDM prevention. Methods: Retrospective cohort study of 1396 Thai singleton pregnancies at a maternal and child hospital (2023–2025). GWG targets were derived as interquartile ranges (P25–P75) from a healthy-outcomes subgroup (n = 706), with validity confirmed by multivariable logistic regression and a 70:30 derivation/validation split. Results: GDM prevalence was 15.8%, with a rising crude trend that was attenuated after accounting for a mid-study change in screening protocol. Provisional Thai-specific GWG targets were underweight/normal weight 11.5–18.0 kg, overweight 9.7–18.0 kg, obesity class I 9.1–16.0 kg, and obesity class II+ 5.8–12.1 kg. Inadequate GWG in obesity class I was associated with a 3.92-fold GDM risk increase (aOR 3.92, 95% CI 2.12–7.24, p < 0.001). Adherence improved from 34.7% (IOM 2009) to 50.2% with Thai-specific targets. Conclusions: These Thai-specific GWG targets are provisional, single-centre pilot estimates. They appear clinically safe and are substantially more achievable than IOM 2009 criteria and are offered to inform BMI-appropriate antenatal counselling and to justify a multi-centre validation study, rather than as ranges that are ready for immediate national adoption. Full article

Background: Increased placental thickness has been associated with adverse perinatal outcomes and fetal functional and structural abnormalities. However, whether marked third-trimester placental thickening is associated with a distinct maternal clinical profile compared with pregnancies with normal placental thickness remains insufficiently characterized. This study aimed to compare maternal characteristics, comorbidities, medication exposure, infection history, and fetal findings between pregnancies with marked placental thickening, defined as placental thickness ≥70 mm, and gestational-age-matched control pregnancies with a placental thickness <70 mm and no documented maternal or fetal abnormalities. Methods: This retrospective matched case–control study included singleton pregnancies referred for fetal echocardiography to a tertiary referral center in Łódź, Poland, between 1 January 2022 and 14 March 2025. Placental thickness was measured sonographically in a perpendicular plane from the chorionic plate to the basal plate, excluding the umbilical cord insertion site. Only anterior and/or fundal placentas assessed at ≥28 weeks of gestation were included. Among pregnancies with recorded third-trimester placental thickness measurements, 99 cases with placental thickness ≥70 mm were identified as the thick-placenta group. A control group of 99 pregnancies with placental thickness <70 mm was selected and matched for gestational age. Control pregnancies had no documented maternal disease, no fetal structural or functional abnormalities, and no exposure to the medications analyzed in this study. Maternal demographic characteristics, body mass index, comorbidities, infection history, obstetric history, and medication use were compared between groups. Continuous variables were compared using Welch’s t-test and the Mann–Whitney U test, and categorical variables were compared using Fisher’s exact test. Results: The study included 99 pregnancies with marked placental thickening and 99 control pregnancies with normal placental thickness. Gestational age at examination was comparable between groups, with a mean of 35.5 weeks in controls and 35.0 weeks in the thick-placenta group (p = 0.662, Welch’s t-test). Median gestational age was also not significantly different between groups (35.4 vs. 36.43 weeks; p = 0.340, Mann–Whitney U test). Mean placental thickness was significantly greater in the thick-placenta group than in controls (81.4 mm vs. 46.9 mm; p < 0.0001). Maternal age and anthropometric characteristics were comparable between groups, whereas BMI > 25 kg/m² was more common in the thick-placenta group. In contrast to the clinically healthy control group, maternal infection was documented in 100.0% of thick-placenta cases, hormonal treatment in 97.0%, history of COVID-19 in 52.5%, hypothyroidism in 44.4%, prior miscarriage in 37.4%, aspirin or anticoagulant use in 32.3%, gestational diabetes mellitus in 25.3%, and pregnancy-induced hypertension in 7.1%. All evaluated maternal clinical factors were significantly more common in the thick-placenta group than in controls. Fetal cardiac or extracardiac dysfunction was present in 68.7% of thick-placenta pregnancies. Conclusions: In this gestational-age-matched case–control study, pregnancies with marked third-trimester placental thickening showed a distinct maternal profile compared with healthy controls with normal placental thickness. Despite comparable gestational age, maternal age, and maternal anthropometric characteristics, the thick-placenta group demonstrated a significantly higher infectious, hormonal, metabolic, and endocrine burden. These findings indicate that, in this selected tertiary referral cohort, placental thickness ≥70 mm was associated with a higher burden of maternal clinical abnormalities and fetal functional findings. Rather than representing an independent marker of placental maladaptation or maternal-fetal risk, marked placental thickening should be interpreted as a clinically relevant ultrasound finding that may prompt careful review of maternal history and targeted fetal assessment. Prospective studies are needed to determine which maternal factors are independently associated with placental thickening and to clarify their relationship with fetal function and perinatal outcomes. Full article

Background/Objectives: Depressive symptoms are more frequent following pregnancies complicated by gestational diabetes mellitus (GDM), prompting postpartum depression screening recommendations in the German S3 guideline. Although GDM is associated with increased postpartum depression risk, the relationships between postpartum metabolic parameters and the Edinburgh Postnatal Depression Scale (EPDS) scores remain unclear. We investigated whether metabolic markers measured during diabetes screening 6–12 weeks postpartum are associated with depressive symptoms. Methods: We retrospectively analyzed EPDS screenings conducted during postpartum testing at our inpatient clinic between 07/2021 and 02/2024. The EPDS is a validated 10-item tool (score range 0–30), with scores ≥10 indicating potential depression. Metabolic parameters included HbA1c, the 75 g oral glucose tolerance test (oGTT), insulin, and the Homeostasis Model Assessment index (HOMA index). Group comparisons were performed using non-parametric tests and receiver operating characteristic (ROC) analyses, with the Youden index identifying optimal cutoffs. Results: Among the 102 women presenting for postpartum testing, 43.1% had normal glucose tolerance, 54.9% prediabetes, and 2.0% diabetes. A total of 13.7% (n = 14) screened positive for potential depression, including two who reported suicidal ideations. Women with positive EPDS scores had significantly higher HbA1c [5.7% (38.3 mmol/mol) vs. 5.4% (35.5 mmol/mol), p = 0.013]. An HbA1c cutoff of 5.42% (35.75 mmol/mol) showed discriminatory ability for depressive symptoms with an Area Under the Curve (AUC) of 0.708 (CI 0.567–0.849). Other metabolic parameters showed no significant associations. Conclusions: Elevated postpartum HbA1c is associated with depressive symptoms after GDM pregnancies. An HbA1c threshold of 5.42% (35.75 mmol/mol) may help identify women at increased postpartum depression risk and prompt subsequent psychological assessment when depression screening is otherwise omitted. Full article

Background and Objectives: We aimed to examine the demographic characteristics, prenatal imaging findings, genetic evaluation results, and postnatal outcomes of fetuses with posterior fossa anomalies (PFAs), and also to evaluate the diagnostic concordance between prenatal ultrasonography (USG) and fetal magnetic resonance imaging (MRI). Materials and Methods: This descriptive study analyzed singleton pregnancies referred to Izmir City Hospital and Tepecik Training and Research Hospital for suspected fetal PFA between 2016 and 2024. Data including USG findings, fetal MRI reports, genetic results, and perinatal outcomes were extracted from institutional records. Diagnostic concordance between USG and MRI was statistically assessed using the kappa coefficient. Results: Out of 152 fetuses with suspected PFA on USG, 116 underwent fetal MRI. Following the exclusion of normal MRI findings (n = 23), the final cohort comprised 93 fetuses with confirmed PFA. Mega cisterna magna (MCM) was the most prevalent diagnosis (54.8%), followed by cerebellar hypoplasia (CH) (15.1%) and Dandy–Walker malformation (DWM) (10.8%). A moderate-to-good diagnostic concordance was observed between USG and MRI (kappa = 0.640, p < 0.001). Significant differences were noted across MRI groups regarding gestational age at diagnosis (p < 0.001) and birth weight, which was notably lower in CH compared to MCM (p = 0.004). Clinical outcomes varied significantly by diagnosis (p < 0.001); while 74.5% of MCM cases showed normal development, adverse outcomes predominated in CH and Walker–Warburg syndrome. Conclusions: Fetal PFAs are a heterogeneous group of anomalies with different diagnostic and variable prognostic profiles. Fetal MRI improves anatomical classification and provides clinically significant contributions to prenatal counseling and perinatal management. Full article

Introduction: Hypocalcemia represents a major cause of seizures in children in the absence of fever or infections. Hypovitaminosis D, usually associated with a lack of proper prophylactic regimens, can trigger those events. This case series aims to highlight two cases of hypocalcemic seizures in infants, attributed to severe vitamin D deficiency, with the aim of raising awareness regarding the importance of vitamin D prophylaxis. A narrative review of the literature is also provided, which highlights similar reported cases. Methods: We hereby report two cases of male infants (aged 4 months and 5 months) who presented to the emergency department of a tertiary pediatric center with seizures in the absence of fever or infections. Diagnostic work-ups revealed low levels of total serum calcium and ionic calcium deficiency. The cause of the hypocalcemia turned out to be severe vitamin D deficiency in both cases, caused by complete absence of vitamin D supplements since birth and during maternal pregnancy. In both cases, combined oral calcium and vitamin D supplementation led to complete resolution of symptoms and restoration of normal calcium levels. A comprehensive review of the literature is also provided, which focuses on pediatric studies and case reports that analyzed the prevalence, particularities, and outcomes of hypocalcemic seizures related to vitamin D deficiency. Articles including subjects with congenital or endocrine disorders that could have caused hypocalcemia were ruled out. Results: After accessing the full-length form of each article and applying the inclusion and exclusion criteria, 27 articles were included, namely 14 studies and 13 case reports. Hypocalcemic seizures caused by vitamin D deficiency are more common in infants, are usually linked to maternal hypovitaminosis D, and have a higher prevalence in developing countries. Most of the case reports depicting hypocalcemic seizures were distinguished through very low vitamin D levels. Conclusions: These case series emphasize the importance of vitamin D supplementation for the prevention of hypocalcemia, which constitutes a major metabolic cause of seizures in infancy. Nevertheless, maternal vitamin D supplementation during pregnancy is the only factor that can ensure the presence of satisfactory deposits in the newborn and prevent hypovitaminosis D-related complications. Full article