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Keywords = perinatal risk

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10 pages, 634 KiB  
Review
Updates in Contemporary Management of Singleton Pregnancies Complicated by a Short Cervix
by Moti Gulersen, Vincenzo Berghella and Eran Bornstein
J. Clin. Med. 2025, 14(15), 5544; https://doi.org/10.3390/jcm14155544 (registering DOI) - 6 Aug 2025
Abstract
Singleton pregnancies complicated by a short cervical length (≤25 mm) are at significantly increased risk for spontaneous preterm birth. Several treatment strategies aimed at reducing this risk and improving perinatal outcomes have been evaluated, including vaginal progesterone, cervical cerclage, and cervical pessary. This [...] Read more.
Singleton pregnancies complicated by a short cervical length (≤25 mm) are at significantly increased risk for spontaneous preterm birth. Several treatment strategies aimed at reducing this risk and improving perinatal outcomes have been evaluated, including vaginal progesterone, cervical cerclage, and cervical pessary. This review summarizes the latest evidence regarding the efficacy of these interventions. Vaginal progesterone and/or cervical cerclage have been identified as proven evidence-based practices for preterm birth prevention and improve neonatal outcomes. Vaginal progesterone reduces the risk of preterm birth < 35 weeks by 27% (relative risk 0.73, 95% confidence interval 0.58–0.90). Cervical cerclage has been shown to reduce the risk of preterm birth < 35 weeks by 30% (relative risk 0.70, 95% confidence interval 0.55–0.89) in patients with a short cervical length and prior preterm birth. In contrast, recent data suggest that cervical pessary should no longer be considered a management option for these patients. A continued focus on individualized, evidence-based approaches remains essential to optimizing outcomes in this high-risk population. Full article
(This article belongs to the Special Issue State of the Art: Updates in Preterm Labor and Preterm Birth)
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24 pages, 3915 KiB  
Article
Prothrombotic Genetic Mutations Are Associated with Sub-Clinical Placental Vascular Lesions: A Histopathological and Morphometric Study
by Viorela-Romina Murvai, Anca Huniadi, Radu Galiș, Gelu Florin Murvai, Timea Claudia Ghitea, Alexandra-Alina Vesa and Ioana Cristina Rotar
Curr. Issues Mol. Biol. 2025, 47(8), 612; https://doi.org/10.3390/cimb47080612 - 4 Aug 2025
Viewed by 63
Abstract
Background: Inherited thrombophilia is increasingly recognized as a contributing factor to placental vascular pathology and adverse pregnancy outcomes. While the clinical implications are well-established, fewer studies have systematically explored the histopathological changes associated with specific genetic mutations in thrombophilic pregnancies. Materials and Methods: [...] Read more.
Background: Inherited thrombophilia is increasingly recognized as a contributing factor to placental vascular pathology and adverse pregnancy outcomes. While the clinical implications are well-established, fewer studies have systematically explored the histopathological changes associated with specific genetic mutations in thrombophilic pregnancies. Materials and Methods: This retrospective observational study included two cohorts of placental samples collected between September 2020 and September 2024 at a tertiary maternity hospital. Group 1 included women diagnosed with hereditary thrombophilia, and Group 2 served as controls without known maternal pathology. Placentas were examined macroscopically and histologically, with pathologists blinded to group allocation. Histological lesions were classified according to the Amsterdam Consensus and quantified using a composite score (0–5) based on five key vascular features. Results: Placental lesions associated with maternal vascular malperfusion—including infarctions, intervillous thrombosis, stromal fibrosis, villous stasis, and acute atherosis—were significantly more frequent in the thrombophilia group (p < 0.05 for most lesions). A combination of well-established thrombophilic mutations (Factor V Leiden, Prothrombin G20210A) and other genetic polymorphisms with uncertain clinical relevance (MTHFR C677T, PAI-1 4G/4G) showed moderate-to-strong correlations with histopathological markers of placental vascular injury. A composite histological score ≥3 was significantly associated with thrombophilia (p < 0.001). Umbilical cord abnormalities, particularly altered coiling and hypertwisting, were also more prevalent in thrombophilic cases. Conclusions: Thrombophilia is associated with distinct and quantifiable placental vascular lesions, even in pregnancies without overt clinical complications. The use of a histological scoring system may aid in the retrospective identification of thrombophilia-related placental pathology and support the integration of genetic and histologic data in perinatal risk assessment. Full article
(This article belongs to the Special Issue Feature Papers in Molecular Medicine 2025)
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12 pages, 869 KiB  
Article
Neonatal Jaundice Requiring Phototherapy Risk Factors in a Newborn Nursery: Machine Learning Approach
by Yunjin Choi, Sunyoung Park and Hyungbok Lee
Children 2025, 12(8), 1020; https://doi.org/10.3390/children12081020 - 1 Aug 2025
Viewed by 281
Abstract
Background: Neonatal jaundice is common and can cause severe hyperbilirubinemia if untreated. The early identification of at-risk newborns is challenging despite the existing guidelines. Objective: This study aimed to identify the key maternal and neonatal risk factors for jaundice requiring phototherapy using machine [...] Read more.
Background: Neonatal jaundice is common and can cause severe hyperbilirubinemia if untreated. The early identification of at-risk newborns is challenging despite the existing guidelines. Objective: This study aimed to identify the key maternal and neonatal risk factors for jaundice requiring phototherapy using machine learning. Methods: In this study hospital, phototherapy was administered following the American Academy of Pediatrics (AAP) guidelines when a neonate’s transcutaneous bilirubin level was in the high-risk zone. To identify the risk factors for phototherapy, we retrospectively analyzed the electronic medical records of 8242 neonates admitted between 2017 and 2022. Predictive models were trained using maternal and neonatal data. XGBoost showed the best performance (AUROC = 0.911). SHAP values interpreted the model. Results: Mode of delivery, neonatal feeding indicators (including daily formula intake and breastfeeding frequency), maternal BMI, and maternal white blood cell count were strong predictors. Cesarean delivery and lower birth weight were linked to treatment need. Conclusions: Machine learning models using perinatal data accurately predict the risk of neonatal jaundice requiring phototherapy, potentially aiding early clinical decisions and improving outcomes. Full article
(This article belongs to the Section Pediatric Nursing)
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24 pages, 6020 KiB  
Article
Seasonal Patterns of Preterm Birth During the COVID-19 Pandemic: A Retrospective Cohort Study in Romania
by Paula Trif, Cristian Sava, Diana Mudura, Boris W. Kramer, Radu Galiș, Maria Livia Ognean, Alin Iuhas and Claudia Maria Jurca
Medicina 2025, 61(8), 1398; https://doi.org/10.3390/medicina61081398 - 1 Aug 2025
Viewed by 199
Abstract
Background and Objectives: Preterm birth and stillbirth are primary adverse pregnancy outcomes. Research during the COVID-19 pandemic revealed reductions in preterm birth in some countries, while stillbirth rates increased or remained unchanged. These findings suggest the presence of preventable risk factors associated with [...] Read more.
Background and Objectives: Preterm birth and stillbirth are primary adverse pregnancy outcomes. Research during the COVID-19 pandemic revealed reductions in preterm birth in some countries, while stillbirth rates increased or remained unchanged. These findings suggest the presence of preventable risk factors associated with changes in physical activity and lower exposure to community-acquired infections due to lockdown measures, altered social interaction patterns or reduced access to antenatal care. Assessing seasonal variation may offer insights into whether lifestyle changes during the COVID-19 lockdown period influenced preterm birth rates. Materials and Methods: This retrospective cohort study used data from the electronic medical records of Bihor and Sibiu counties. Preterm deliveries (<37 weeks) and stillbirths during the COVID-19 pandemic (2020 and 2021) were compared with the corresponding pre-pandemic (2018 and 2019) and post-pandemic (2022 and 2023) period. Preterm birth rates during summer and winter in the pre-pandemic, pandemic, and post-pandemic years were analyzed. A comparison with rates during strict lockdown was made. Results: Out of 52,021 newborn infants, 4473 were born preterm. Preterm birth rates remained stable across all three periods (p = 0.13), and no significant seasonal pattern was identified (p = 0.65). In contrast, stillbirth rates increased notably during the strict lockdown period, with the median incidence almost doubling compared to other periods (0.87%, p = 0.05), while remaining unchanged during the rest of the pandemic (p = 0.52). Conclusions: Our study found that preterm birth rates remained unaffected by the pandemic and lockdown periods, while stillbirths increased significantly during the strict lockdown. These findings highlight the importance of maintaining access to timely antenatal care during public health emergencies to prevent adverse perinatal outcomes. Full article
(This article belongs to the Special Issue Advances in Obstetrics and Maternal-Fetal Medicine)
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12 pages, 498 KiB  
Article
Outcomes of Pregnancies with Absent or Hypoplastic Fetal Nasal Bone: A Retrospective Analysis of Prenatal Findings and Perinatal Outcomes
by Eva Karner, Lara Krepler, Petra Pateisky, Agnes Grill, Paul Dremsek, Guelen Yerlikaya-Schatten and Stephanie Springer
Life 2025, 15(8), 1215; https://doi.org/10.3390/life15081215 - 1 Aug 2025
Viewed by 220
Abstract
Hypoplastic or absent fetal nasal bone (NB) is a significant soft marker in the risk assessment for aneuploidies. This study aimed to evaluate prenatal findings and perinatal outcomes in fetuses with absent or hypoplastic NB managed at our center. This retrospective analysis was [...] Read more.
Hypoplastic or absent fetal nasal bone (NB) is a significant soft marker in the risk assessment for aneuploidies. This study aimed to evaluate prenatal findings and perinatal outcomes in fetuses with absent or hypoplastic NB managed at our center. This retrospective analysis was conducted at the Department of Obstetrics at the Medical University of Vienna and including all cases with an absent or hypoplastic fetal NB between 2004 and 2022. Clinical data were extracted and analyzed using descriptive statistics. A total of 149 cases were included. Of these, 51% had chromosomal abnormalities, with trisomy 21 present in 30.9%. Malformations were identified in 55% of cases, most commonly congenital heart defects (34.9%) and facial dysmorphism (28.9%). Eighteen fetuses (12.1%) had structural anomalies without genetic disorders. In 32.9% (n = 49), the NB anomaly was isolated. Our findings show that only half of the cases had chromosomal abnormalities, and over half of the pregnancies resulted in live births with generally favorable perinatal outcomes. However, the presence of additional ultrasound abnormalities significantly increased the risk of adverse outcomes. Therefore, detection of a fetal NB anomaly should prompt comprehensive ultrasound evaluation and genetic testing. Full article
(This article belongs to the Special Issue Advanced Research in Obstetrics and Gynecology)
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24 pages, 624 KiB  
Systematic Review
Integrating Artificial Intelligence into Perinatal Care Pathways: A Scoping Review of Reviews of Applications, Outcomes, and Equity
by Rabie Adel El Arab, Omayma Abdulaziz Al Moosa, Zahraa Albahrani, Israa Alkhalil, Joel Somerville and Fuad Abuadas
Nurs. Rep. 2025, 15(8), 281; https://doi.org/10.3390/nursrep15080281 - 31 Jul 2025
Viewed by 143
Abstract
Background: Artificial intelligence (AI) and machine learning (ML) have been reshaping maternal, fetal, neonatal, and reproductive healthcare by enhancing risk prediction, diagnostic accuracy, and operational efficiency across the perinatal continuum. However, no comprehensive synthesis has yet been published. Objective: To conduct a scoping [...] Read more.
Background: Artificial intelligence (AI) and machine learning (ML) have been reshaping maternal, fetal, neonatal, and reproductive healthcare by enhancing risk prediction, diagnostic accuracy, and operational efficiency across the perinatal continuum. However, no comprehensive synthesis has yet been published. Objective: To conduct a scoping review of reviews of AI/ML applications spanning reproductive, prenatal, postpartum, neonatal, and early child-development care. Methods: We searched PubMed, Embase, the Cochrane Library, Web of Science, and Scopus through April 2025. Two reviewers independently screened records, extracted data, and assessed methodological quality using AMSTAR 2 for systematic reviews, ROBIS for bias assessment, SANRA for narrative reviews, and JBI guidance for scoping reviews. Results: Thirty-nine reviews met our inclusion criteria. In preconception and fertility treatment, convolutional neural network-based platforms can identify viable embryos and key sperm parameters with over 90 percent accuracy, and machine-learning models can personalize follicle-stimulating hormone regimens to boost mature oocyte yield while reducing overall medication use. Digital sexual-health chatbots have enhanced patient education, pre-exposure prophylaxis adherence, and safer sexual behaviors, although data-privacy safeguards and bias mitigation remain priorities. During pregnancy, advanced deep-learning models can segment fetal anatomy on ultrasound images with more than 90 percent overlap compared to expert annotations and can detect anomalies with sensitivity exceeding 93 percent. Predictive biometric tools can estimate gestational age within one week with accuracy and fetal weight within approximately 190 g. In the postpartum period, AI-driven decision-support systems and conversational agents can facilitate early screening for depression and can guide follow-up care. Wearable sensors enable remote monitoring of maternal blood pressure and heart rate to support timely clinical intervention. Within neonatal care, the Heart Rate Observation (HeRO) system has reduced mortality among very low-birth-weight infants by roughly 20 percent, and additional AI models can predict neonatal sepsis, retinopathy of prematurity, and necrotizing enterocolitis with area-under-the-curve values above 0.80. From an operational standpoint, automated ultrasound workflows deliver biometric measurements at about 14 milliseconds per frame, and dynamic scheduling in IVF laboratories lowers staff workload and per-cycle costs. Home-monitoring platforms for pregnant women are associated with 7–11 percent reductions in maternal mortality and preeclampsia incidence. Despite these advances, most evidence derives from retrospective, single-center studies with limited external validation. Low-resource settings, especially in Sub-Saharan Africa, remain under-represented, and few AI solutions are fully embedded in electronic health records. Conclusions: AI holds transformative promise for perinatal care but will require prospective multicenter validation, equity-centered design, robust governance, transparent fairness audits, and seamless electronic health record integration to translate these innovations into routine practice and improve maternal and neonatal outcomes. Full article
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11 pages, 232 KiB  
Article
The Impact of Advanced Maternal Age on Pregnancy Complications and Neonatal Outcomes
by Fikriye Karanfil Yaman, Huriye Ezveci, Sukran Dogru, Melike Sevde Harmanci, Pelin Bahçeci and Kazım Gezginç
J. Clin. Med. 2025, 14(15), 5387; https://doi.org/10.3390/jcm14155387 - 31 Jul 2025
Viewed by 326
Abstract
Objective: This study aimed to evaluate and compare maternal and fetal outcomes between pregnancies in women aged 40 and over and those in women under 40 years of age at a tertiary care hospital. Methods: A retrospective cohort study was conducted [...] Read more.
Objective: This study aimed to evaluate and compare maternal and fetal outcomes between pregnancies in women aged 40 and over and those in women under 40 years of age at a tertiary care hospital. Methods: A retrospective cohort study was conducted at Necmettin Erbakan University Medical Faculty Hospital, analyzing data from 345 women aged 40 and over and 366 women under 40 who delivered between January 2015 and December 2024. Maternal and perinatal outcomes—including mode of delivery, gestational age, birth weight, and complications such as gestational diabetes, preeclampsia, and postpartum hemorrhage—were compared between the two groups. Results: Women aged 40 and over had significantly higher rates of cesarean section (73% vs. 36.1%, p < 0.0001), preterm delivery (27.8% vs. 18%, p = 0.002), and gestational diabetes (14.8% vs. 7.7%, p = 0.002). Additionally, these women had a higher incidence of preeclampsia (13% vs. 5.7%, p = 0.001) and postpartum hemorrhage (18% vs. 10.5%, p = 0.003). Despite these increased risks, the 5 min APGAR score was significantly higher in the ≥40 age group (median 8 vs. 7, p < 0.0001). The incidence of chromosomal abnormalities was significantly higher in patients≥ 40 years, with 5 cases (1.4%) reported, compared to no cases (0%) in the <40 age group (p = 0.025). Conclusions: This study shows that pregnancies in women aged 40 and above carry higher maternal and fetal risks compared to younger women. Complications such as preterm labor, cesarean delivery, gestational diabetes, and preeclampsia occur more frequently in this group. However, with careful prenatal care, positive neonatal outcomes are often achievable, highlighting the need for age-specific management and early risk detection. Full article
(This article belongs to the Section Obstetrics & Gynecology)
19 pages, 766 KiB  
Systematic Review
Molecular Mechanisms Underlying Inflammation in Early-Onset Neonatal Sepsis: A Systematic Review of Human Studies
by Anca Vulcănescu, Mirela-Anișoara Siminel, Anda-Lorena Dijmărescu, Maria-Magdalena Manolea, Sidonia-Maria Săndulescu, Virginia Maria Rădulescu, Valeriu Gheorman and Sorin-Nicolae Dinescu
J. Clin. Med. 2025, 14(15), 5315; https://doi.org/10.3390/jcm14155315 - 28 Jul 2025
Viewed by 317
Abstract
Background/Objective: Early-onset neonatal sepsis (EOS), defined as infection occurring within the first 72 h after birth, remains a major contributor to neonatal morbidity and mortality worldwide. Although advances in perinatal care have improved overall outcomes, the diagnosis of EOS continues to be [...] Read more.
Background/Objective: Early-onset neonatal sepsis (EOS), defined as infection occurring within the first 72 h after birth, remains a major contributor to neonatal morbidity and mortality worldwide. Although advances in perinatal care have improved overall outcomes, the diagnosis of EOS continues to be challenging. Clinical presentations are often nonspecific, laboratory confirmation is often delayed, and immune responses vary considerably among neonates. Expanding our understanding of the molecular mechanisms underlying EOS is essential in enhancing early detection, refining risk stratification, and guiding therapeutic strategies. This systematic review aims to synthesize the available information on the molecular pathways involved in EOS, focusing on pathogen-induced inflammation, systemic immune responses, sterile inflammatory processes, interactions between infectious and non-infectious pathways, as well as emerging molecular diagnostic approaches. Methods: A comprehensive review of original research articles and reviews published between January 2015 and January 2025 was conducted; studies were included based on their focus on human neonates and their analysis of molecular or immunological mechanisms relevant to EOS pathogenesis, immune dysregulation, or novel diagnostic strategies. Results: Pathogen-driven inflammation typically involves the activation of Toll-like receptors (TLRs), the recruitment of neutrophils, and the release of pro-inflammatory cytokines such as IL-6, IL-1β, and TNF-α, particularly in response to vertical transmission of organisms like Escherichia coli and Streptococcus agalactiae. Systemic inflammatory responses are marked by cytokine dysregulation, contributing to multi-organ dysfunction. Sterile inflammation, often initiated by hypoxia–reperfusion injury or intrauterine stress, amplifies susceptibility to sepsis. Interactions between immune, metabolic, and endothelial pathways further exacerbate tissue injury. Recent advances, including transcriptomic profiling, microRNA-based biomarkers, and immune checkpoint studies, offer promising strategies for earlier diagnosis and individualized therapeutic options. Conclusions: EOS arises from a complex interplay of infectious and sterile inflammatory mechanisms. A deeper molecular understanding holds promise for advancing correct diagnostics and targeted therapies, aiming to improve neonatal outcomes. Full article
(This article belongs to the Section Clinical Pediatrics)
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13 pages, 248 KiB  
Article
An Assessment of Motor Skills in Infants at Risk of Atypical Psychomotor Development Using the Vojta Method
by Robert Podstawski, Katarzyna Balewska-Juras, Krzysztof Borysławski, Attila Szabo and Jadwiga Snarska
Children 2025, 12(8), 976; https://doi.org/10.3390/children12080976 - 24 Jul 2025
Viewed by 382
Abstract
Background: Some neonates are assessed for the risk of atypical psychomotor development at birth and are referred for reflex locomotion therapy using the Vojta method. Aim: The aim of this study was to analyze the relationships between spontaneous motor activity (SMA), [...] Read more.
Background: Some neonates are assessed for the risk of atypical psychomotor development at birth and are referred for reflex locomotion therapy using the Vojta method. Aim: The aim of this study was to analyze the relationships between spontaneous motor activity (SMA), ideal movement patterns (IMPs), central coordination disorders (CCDs), vital signs at birth, involuntary reflexes, and postural asymmetry in infants. Methods: This study involved 90 female and 107 male subjects in the age interval of 1–16 months (4.15 ± 2.18). Their psychomotor development was assessed using the Vojta method. Age-appropriate involuntary reflexes were evaluated, and both parameters were correlated with perinatal risk factors. Results: Males scored significantly higher than females (difference of −0.7, p = 0.022) in the SMA test. In both genders, SMA (p < 0.001 in both genders) and IMP scores improved significantly with age. In male infants, higher CCD scores were associated with significantly lower SMA and IMP scores (p = 0.017 and p < 0.001, respectively). Significantly higher CCD scores were noted in female subjects with the Moro reflex and postural asymmetry (p = 0.003 and p = 0.002, respectively). In males, the Moro reflex was significantly correlated with the Vojta reaction (p = 0.012) and the Collis vertical suspension reflex (p < 0.001). Conclusions: Vital signs at birth, including birth weight, Apgar score, and type of delivery, can predict motor development disorders but do not clearly differentiate infants that require neurodevelopmental therapy. Full article
13 pages, 879 KiB  
Article
Mortality Trends and Characteristics in a Tertiary Hospital in Southwest Saudi Arabia: A 5-Year Retrospective Study
by Layla Ali Shaabi, Mohamed Salih Mahfouz, Ahmed Essa Shamakhi, Fathadin Ali Abdu Alahdal, Ali Hakamy and Fatma Rajhi
Medicina 2025, 61(8), 1334; https://doi.org/10.3390/medicina61081334 - 24 Jul 2025
Viewed by 184
Abstract
Background and Objectives: Hospital mortality rates have repeatedly been used as important indicators of the quality of care provided and as a good monitoring and evaluation tool. Studies on hospital mortality in Saudi Arabia are scant, with most of the available literature focusing [...] Read more.
Background and Objectives: Hospital mortality rates have repeatedly been used as important indicators of the quality of care provided and as a good monitoring and evaluation tool. Studies on hospital mortality in Saudi Arabia are scant, with most of the available literature focusing on the COVID-19 era. In this study, the patterns and trends in inpatient mortality at King Fahad Central Hospital in southwest Saudi Arabia from 2018 to 2022 were analyzed. Mortality characteristics, including age-specific mortality rates and associated factors, were also investigated. Materials and Methods: This was a retrospective study analyzing hospital mortality data in King Fahad Central Hospital (KFCH) from 2018 to 2022 using the largest hospital discharge database in the Jazan region. The mortality rates were calculated, and 95% confidence intervals (CIs) were reported. The analysis also documented some associations using logistic regression models. Results: Of the 62,534 patients admitted, 36,971 (59.1%) were females, and 25,543 (40.9%) were males. The mean age (standard deviation) was 24.6 (22.8) years. The overall hospital mortality was 4.8% [95% CI: 4.6–5.0] and was significantly higher among males [7.0%, 95% CI: 6.7–7.3] than females [3.2% 95% CI: 3.1–3.4] (p < 0.05). Mortality was significantly higher in the population aged 60 years and above [17.25%, 95% CI: 16.3–18.2] (p < 0.001). During the five-year period analyzed, mortality was low in 2018 (3.3%), with remarkably high rates during the COVID-19 period of 2020 and 2021 (5.6% and 6.0%, respectively). The disease groups with the highest prevalence of mortality include certain conditions originating in the perinatal period. In the logistic regression model, the male sex [odds ratio OR = 2.3, 95% CI = 2.01–2.43) was associated with an increased mortality risk. Compared to intensive care beds, general bed departments are associated with a 98% lower risk of mortality [OR = 0.015, 95% CI = 0.014–0.017]. Conclusions: This analysis of hospital data statistics revealed a relatively low hospital mortality rate in Jazan. However, the high mortality rates among male patients require further analysis and investigation. Customized interventions targeting high-mortality diseases are recommended. Full article
(This article belongs to the Section Epidemiology & Public Health)
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20 pages, 770 KiB  
Review
Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy
by Silvestar Mežnarić, Andrej Belančić, Valentino Rački, Dinko Vitezić, Jasenka Mršić-Pelčić and Kristina Pilipović
Biomedicines 2025, 13(8), 1796; https://doi.org/10.3390/biomedicines13081796 - 22 Jul 2025
Viewed by 377
Abstract
Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. Advances in disease-modifying therapies have significantly improved outcomes when treatment is initiated early, underscoring the importance of timely diagnosis. With the growing availability of [...] Read more.
Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. Advances in disease-modifying therapies have significantly improved outcomes when treatment is initiated early, underscoring the importance of timely diagnosis. With the growing availability of prenatal genetic screening and high-resolution molecular diagnostics, opportunities for early detection, and potentially in utero intervention, are rapidly expanding. This narrative review synthesizes current evidence on the prenatal management of SMA, focusing on diagnostic strategies, the clinical application of fetal genetic testing, and the emerging potential of fetal therapy. We explore both invasive and non-invasive diagnostic approaches and evaluate experimental prenatal treatment modalities, while critically addressing the associated ethical, regulatory, and economic considerations. As the field progresses, integrating in utero strategies into clinical care may reshape perinatal medicine and offer transformative potential for genetic neurodegenerative disorders diagnosed before birth. The convergence of early diagnosis, fetal intervention, and personalized genetic counseling will be central to optimizing care pathways and outcomes in the era of precision medicine. Although significant challenges remain, the translation of fetal therapy into routine clinical practice is approaching feasibility. Future clinical trials, anchored in definitive prenatal diagnosis, will be essential, with benefits potentially outweighing the inherent procedural risks. Full article
(This article belongs to the Section Drug Discovery, Development and Delivery)
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17 pages, 360 KiB  
Article
High Antenatal Psychosocial Risk Among Pregnant Women in Bulgaria: Evidence to Support Routine Mental-Health Screening
by Elitsa Gyokova, Eleonora Hristova-Atanasova and Georgi Iskrov
J. Clin. Med. 2025, 14(14), 5158; https://doi.org/10.3390/jcm14145158 - 21 Jul 2025
Viewed by 337
Abstract
Background: Antenatal depression and anxiety contribute significantly to maternal morbidity and adverse pregnancy outcomes. However, structured screening and targeted interventions are largely absent from standard prenatal care in many Eastern European countries, including Bulgaria. This study examines the prevalence and psychosocial predictors of [...] Read more.
Background: Antenatal depression and anxiety contribute significantly to maternal morbidity and adverse pregnancy outcomes. However, structured screening and targeted interventions are largely absent from standard prenatal care in many Eastern European countries, including Bulgaria. This study examines the prevalence and psychosocial predictors of antenatal psychosocial risk using the validated Antenatal Risk Questionnaire–Revised (ANRQ-R) in a nationally underrepresented population. Methods: A cross-sectional survey was conducted among 216 third-trimester pregnant women in Bulgaria. Data on sociodemographic characteristics, health behaviours, and reproductive history were collected. Multivariate logistic regression identified predictors of elevated psychosocial risk. Results: A total of 65.7% of participants met the criteria for elevated psychosocial risk. Significant risk factors included passive smoking exposure during pregnancy (OR = 5.03, p < 0.001), physical activity prior to pregnancy (OR = 1.81, p = 0.004), and a family history of hereditary disease (OR = 42.67, p < 0.001). Protective factors were better self-rated current health (OR = 0.37, p = 0.004), the presence of chronic illness (OR = 0.42, p = 0.049), previous childbirth experience (OR = 0.11, p = 0.032), and residence in Northwestern Bulgaria (OR = 0.31, p = 0.028). Despite the high prevalence of psychosocial vulnerability, only 9.5% of affected women sought professional help. Conclusions: While our findings point to important unmet needs in antenatal mental health, further research is required before national screening policies can be implemented. Pilot programs, cultural validation of tools, and system-level readiness assessments should precede broad adoption. Full article
(This article belongs to the Section Mental Health)
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10 pages, 234 KiB  
Review
Pregnancy and Delivery After Solid Organ and Uterus Transplantation: A Review
by Iori Kisu, Mitsutoshi Yamada, Satoru Ikenoue and Wataru Yamagami
J. Clin. Med. 2025, 14(14), 5138; https://doi.org/10.3390/jcm14145138 - 19 Jul 2025
Viewed by 405
Abstract
In recent years, advances in organ transplantation medicine have led to an increase in pregnancies and births following transplantation. Pregnancy after organ transplantation is considered high-risk, and its impact on both the recipient and the child must be carefully evaluated. In this review, [...] Read more.
In recent years, advances in organ transplantation medicine have led to an increase in pregnancies and births following transplantation. Pregnancy after organ transplantation is considered high-risk, and its impact on both the recipient and the child must be carefully evaluated. In this review, we summarize the current landscape of pregnancy and childbirth after organ transplantation, with a particular focus on uterus transplantation (UTx). Traditionally, organ transplants have involved vital organs; however, UTx, developed for women with absolute uterine factor infertility, represents a novel approach. Although the number of births following UTx remains limited, it is expected to grow due to the international expansion of this procedure. Importantly, the concept of pregnancy and delivery following UTx is fundamentally different from that of other organ transplants. UTx is a life-enhancing, non-vital, and temporary transplant uniquely intended to enable the creation of new life. Pregnancy after UTx carries specific risks such as a higher incidence of miscarriage, preterm birth, hypertensive disorders of pregnancy, and gestational diabetes. All deliveries are performed via cesarean section, and conception is typically allowed after a relatively short period following transplantation, given the temporary nature of the graft and the goal to minimize recipient burden, with generally good neonatal outcomes. As pregnancies after both solid organ transplantation and UTx continue to rise worldwide, the development of standardized, organ-specific perinatal management strategies, particularly for UTx, is essential. Multidisciplinary collaboration will be critical to supporting these high-risk pregnancies and ensuring the best possible maternal and neonatal outcomes. Full article
(This article belongs to the Special Issue New Advances in Uterus and Ovarian Transplantation: 2nd Edition)
10 pages, 250 KiB  
Perspective
Prenatal Psychosocial Distress Screening for Individuals Experiencing Pregnancies Complicated by Fetal Anomalies
by Kara Hansen, Lisa Mische Lawson and Abigail Wilpers
J. Pers. Med. 2025, 15(7), 322; https://doi.org/10.3390/jpm15070322 - 18 Jul 2025
Viewed by 647
Abstract
Pregnant individuals who receive a fetal anomaly diagnosis experience significantly elevated rates of depression, anxiety, and traumatic stress—up to four to six times higher than those for individuals with low-risk pregnancies. In low-risk pregnancies, perinatal mental health conditions are the leading cause of [...] Read more.
Pregnant individuals who receive a fetal anomaly diagnosis experience significantly elevated rates of depression, anxiety, and traumatic stress—up to four to six times higher than those for individuals with low-risk pregnancies. In low-risk pregnancies, perinatal mental health conditions are the leading cause of maternal mortality and are associated with adverse birth outcomes, including preterm birth and low birth weight. These risks are likely compounded in pregnancies involving fetal anomalies due to the intersecting psychological and social burdens that complicate maternal well-being and access to care. However, there is a critical gap in understanding how these mental health symptoms translate into diagnoses, treatments, and outcomes due to the absence of a validated screening tool tailored to this population’s unique psychosocial needs. This perspective article reviews evidence, highlights the urgent need for specialized screening, and introduces ongoing research aimed at developing and validating an instrument that integrates both mental health symptoms and broader psychosocial distress. By bridging this gap, structured psychosocial screening has the potential to improve care coordination, facilitate earlier intervention, and mitigate long-term distress for individuals navigating pregnancies affected by fetal anomalies. Full article
(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)
9 pages, 1504 KiB  
Case Report
Zigzag Fetal Heart Rate Pattern in an Uncomplicated Pregnancy with Dual Intrauterine Infection Detected During Labor with Intact Membranes: A Case Report
by Martina Derme, Valentina Demarco, Adele Vasta, Paola Galoppi, Ilenia Mappa and Giuseppe Rizzo
Healthcare 2025, 13(14), 1726; https://doi.org/10.3390/healthcare13141726 - 17 Jul 2025
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Abstract
Background: Histologic chorioamnionitis (HCA) is a placental inflammatory condition characterized by neutrophilic infiltration of the fetal membranes, often occurring without overt clinical signs or symptoms. Risk factors include prolonged labor, premature rupture of membranes (PROM) exceeding 12 h, nulliparity, labor dystocia, and [...] Read more.
Background: Histologic chorioamnionitis (HCA) is a placental inflammatory condition characterized by neutrophilic infiltration of the fetal membranes, often occurring without overt clinical signs or symptoms. Risk factors include prolonged labor, premature rupture of membranes (PROM) exceeding 12 h, nulliparity, labor dystocia, and lower socioeconomic status. Although HCA frequently presents as a subclinical condition, its early diagnosis remains challenging. Nevertheless, HCA is associated with an increased risk of maternal and neonatal morbidity, including early-onset neonatal sepsis, cerebral palsy, and long-term neurodevelopmental impairment. We report the case of a 29-year-old primigravida at 40 + 0 weeks of gestation, admitted for decreased fetal movements. Discussion: Cardiotocographic (CTG) monitoring revealed a “zigzag pattern” in the absence of maternal fever, leukocytosis, or tachycardia. Due to the CTG findings suggestive of possible fetal compromise, in addition to reduced fetal movements, an emergency cesarean section was performed. Intraoperative findings included heavily meconium-stained amniotic fluid, then the examination of the placenta confirmed acute HCA with a maternal inflammatory response, without evidence of fetal inflammatory response. Conclusion: This case highlights the crucial role of CTG abnormalities, particularly the “zigzag pattern,” as an early marker of subclinical intrauterine inflammation. Early recognition of such patterns may facilitate timely intervention and improve perinatal outcomes in cases of histologic chorioamnionitis. Full article
(This article belongs to the Section Women's Health Care)
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