Abstract Objective: To provide global, regional, and national estimates of disability-adjusted life years (DALYs) for neural tube defects (NTDs) and digestive congenital anomalies (DCAs) from 1990 to 2021, with projections to 2050, to inform resource allocation and identify high-burden populations. Methods: Using data from the Global Burden of Disease 2021 study, we analyzed the burden of NTDs and DCAs through descriptive and trend analyses. Age-standardized rates were examined by sex, age, region, and socio-demographic index (SDI). Temporal trends from 1990 to 2021 were assessed using estimated annual percentage change (EAPC). Future trends were forecast using exponential smoothing and ARIMA models. Results: Between 1990 and 2021, the global burden of NTDs and DCAs declined. The age-standardized incidence rate (ASIR) of NTDs decreased from 2.94 to 1.95, while the ASIR of DCAs fell from 8.09 to 7.42. DALYs for both conditions also declined. Females consistently had higher ASIRs and age-standardized DALY rates than males, with the largest burden in children under 5 years. Low SDI regions experienced the highest burden, while high-middle SDI regions saw the fastest decline. Projections indicate a continued decrease in the burden of NTDs and DCAs through 2050. Conclusion: Although the global burden of NTDs and DCAs has decreased over the past three decades, substantial disparities persist, particularly among women and populations in low-SDI regions. These findings highlight the need for targeted public health initiatives, optimized allocation of healthcare resources, and strengthened monitoring and intervention measures to reduce disparities in the disease burden of birth defects.
Abstract Gestational diabetes mellitus (GDM) serves as a diagnostic “stress test” for maternal physiology, exposing underlying metabolic vulnerabilities that imply a potential lifelong cardiometabolic trajectory for both mother and offspring. Mothers with a history of GDM face a 6-to-10-fold increased risk of developing type 2 diabetes mellitus and a 1.4-to-2.0-fold higher risk of cardiovascular disease, chronic hypertension, and chronic kidney disease. These risks are further compounded by factors such as obesity, hypertension, or adverse postpartum weight gain. For offspring, in utero exposure to hyperglycemia is thought to contribute to developmental programming that increases obesity risk—rising from approximately 1.1-fold in early childhood to 2.0-fold by adolescence—and predisposes them to early-onset dysglycemia. Although modest associations between in utero GDM exposure and both neurodevelopmental disorders and early cardiovascular events have been documented, these outcomes appear highly dependent on the postnatal environment. Despite the heterogeneity in findings among observational studies and variations in GDM diagnostic criteria, GDM should be regarded as a critical marker of long-term intergenerational risk for these adverse cardiometabolic and developmental outcomes. This review advocates for a clinical paradigm shift, positioning GDM as a sentinel event that requires a transition from episodic pregnancy care toward sustained, life-course cardiometabolic surveillance and preventative strategies for both mother and offspring.
Abstract Objective: To establish an optimal mean arterial pressure (MAP) cutoff value during the first trimester of pregnancy and evaluate the performance of a simplified screening model combining this threshold with maternal factors for preeclampsia prediction in a large Chinese cohort. Because current screening methods that rely on multiples of the median (MoM) are complex, we assessed the clinical utility and predictive accuracy of a direct, absolute MAP threshold designed for resource-limited settings. Methods: This was a prospective, multicenter cohort study conducted across multiple prenatal care centers in China from May 2021 to November 2024. A consecutive sample of 10,323 women with singleton pregnancies (11 +0 to 13 +6 gestational weeks) was enrolled. Participants were retrospectively assigned to a cutoff cohort ( n = 3613, 35%) and a validation cohort ( n = 6710, 65%) using computational partitioning. The development of preeclampsia served as the primary outcome. An optimal MAP cutoff value was identified in the first cohort, and a prediction model incorporating this threshold alongside maternal characteristics was developed and validated in the second cohort. Results: Preeclampsia occurred in 388 (3.8%) participants. The optimal first-trimester MAP cutoff value was 90 mmHg. The screening model utilizing this MAP cutoff yielded an area under the curve of 0.73 (95% confidence interval ( CI ): 0.70–0.77) for cross-validation. In internal validation, the model demonstrated a specificity of 0.71 (95% CI : 0.70–0.73) and a detection rate of 41% at a fixed false-positive rate of 10%. Conclusion: A MAP value exceeding 90 mmHg can serve as a useful predictor for preeclampsia during the first trimester among Chinese women. The proposed MAP-cutoff model offers a cost-effective and readily implementable alternative to complex MoM-based algorithms, making it particularly valuable for routine clinical practice in resource-limited settings.
Abstract Objective: To evaluate the fetal prognosis of prenatally ultrasound-detected nonvisualization of the fetal gallbladder (NVFGB) in Chinese populations for prenatal counseling practice. Methods: This retrospective cohort study examined pregnant women whose fetuses received an antenatal diagnosis of isolated or nonisolated NVFGB at the Fetal Medicine Multi-Disciplinary Consultation Center, Obstetrics and Gynecology Hospital of Fudan University, between January 1, 2010, and February 10, 2023. NVFGB was defined as the inability to identify the fetal gallbladder during two targeted ultrasound examinations conducted within one week. Cases were classified as nonisolated if the ultrasound revealed additional sonographic abnormalities. The primary outcome measure compared the rates of favorable and poor prognoses, where a poor prognosis included biliary atresia, medically indicated termination of pregnancy, or neonatal death. Additionally, the adjunctive clinical utility of prenatal magnetic resonance imaging (MRI) was assessed in specific cases of NVFGB. Results: Fifty-five cases of NVFGB, comprising 27 isolated and 28 nonisolated instances, were included in this study. No marked differences were identified in baseline characteristics, such as maternal age, history of abnormal pregnancy, Down’s screening results, or gestational age at the time of diagnosis. When compared with the nonisolated group, isolated NVFGB was associated with a more favorable prognosis (100.0% vs. 64.3%; P = 0.002; (risk ratio) RR : 1.50, 95% confidence interval ( CI ): 1.149–1.959) and a significantly lower incidence of the composite adverse outcome (biliary atresia, medical indication termination of pregnancy, or neonatal death) (0 vs. 32.1%; P = 0.002; RR : 0, 95% CI : 0–0.837). The incidence of biliary atresia was 0 in the isolated group and 10.7% in the nonisolated group. Among the six cases that underwent MRI screening, the gallbladder was visualized normally in three instances (50%). Conclusion: The results of this retrospective cohort study suggest that isolated NVFGB is associated with a favorable prognosis, whereas nonisolated NVFGB is linked to an elevated risk of poor outcomes, such as biliary atresia or neonatal death. In certain cases where NVFGB is prenatally diagnosed, antepartum MRI may serve as an effective adjunct to detailed structural ultrasound.
Abstract Preeclampsia (PE) is a life-threatening, pregnancy-specific complication characterized by systemic endothelial dysfunction and placental insufficiency; however, standard clinical management remains inadequate. Among the strategies investigated to address this limitation, the use of mesenchymal stem cell (MSC)-based therapies, particularly those utilizing MSC-derived small extracellular vesicles (sEVs), represents a promising, exploratory therapeutic approach. This narrative review synthesizes evidence regarding the therapeutic roles of perinatal tissue-derived MSCs and sEVs—including those from the umbilical cord, placenta, amnion, and decidua—in mitigating PE pathology. The evaluation focuses on critical underlying mechanisms, specifically the modulation of trophoblast behaviors, restoration of vascular homeostasis through the VEGF/sFlt-1/PlGF axis, attenuation of oxidative stress, and mediation of epigenetic regulation via ncRNAs. Furthermore, the compiled evidence is categorized across a spectrum ranging from in vitro mechanistic studies to in vivo rodent models, highlighting significant translational bottlenecks such as MSC source heterogeneity, a lack of standardized manufacturing protocols, and unresolved safety concerns regarding long-term fetal and maternal effects. By integrating these perspectives, this article outlines a roadmap for future research, emphasizing that standardized functional potency assays and rigorous early-phase clinical evaluations are necessary to advance MSC-based interventions from experimental models toward objective clinical validation.
Abstract Objective: To develop and validate a machine learning–based model for early prediction of in-hospital mortality among preterm neonates using routinely available perinatal and neonatal clinical variables. Methods: This retrospective single-center cohort study included 1612 live-born preterm neonates delivered between 26 and 37 weeks of gestation. Sixteen clinical maternal, perinatal, and neonatal variables were collected, including APGAR scores (appearance, pulse, grimace, activity, respiration) , need for cardiopulmonary resuscitation (CPR), gestational age, birth weight, fetal presentation, in vitro fertilization, and obstetric history. Data preprocessing included anomaly handling, multivariate imputation by chained equations (MICE), one-hot encoding/standardization, and class imbalance management using adaptive synthetic sampling and cost-sensitive learning applied to the training dataset. Model selection compared multiple classifiers, with the final model being a Random Forest identified through the Tree-Based Pipeline Optimization Tool (TPOT) automated machine learning (AutoML) pipeline. Model performance on a held-out test set was assessed using area under the receiver operating characteristic curve (AUC-ROC), accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), F1-score, likelihood ratios, and confusion matrix analysis. Feature importance was assessed using Chi-square/Cramér’s V, logistic regression coefficients, and model-based importance from Random Forest, gradient-boosted trees, and XGBoost. SHapley Additive exPlanations were used to determine the direction and magnitude of feature effects. Overfitting was mitigated through cost-sensitive learning, and consistency between training and test performance indicated minimal overfitting. Results: The model achieved an AUC-ROC of 0.99, accuracy of 0.98, sensitivity of 0.98, specificity of 0.99, PPV of 0.99, NPV of 0.96, and F1-score of 0.988. The most influential predictors of in-hospital mortality were need for CPR, 1-minute APGAR score, gestational age < 28 weeks, 5-minute APGAR score, birth weight < 1 kg, and fetal anomalies. Conclusion: A Random Forest–based AutoML model can accurately predict in-hospital mortality among preterm neonates using routinely available clinical variables. This data-driven tool may support earlier risk stratification, informed clinical decision-making, and improved allocation of neonatal intensive care resources in maternal-fetal and perinatal care settings.
Abstract This review examined the evidence and guidelines on transfusion strategies, targets, and complications in pregnant women with hemoglobinopathies through a narrative review of literature published from 2010 to 2025, including randomized trials, observational studies, systematic reviews, and guidance from the American Society of Hematology, the British Society for Haematology (BSH), and International Society of Blood Transfusion, as well as regional recommendations and consensus statements from thalassemia-endemic areas such as China and Southeast Asia. The findings show that pregnancy substantially alters transfusion requirements and risks in this population. In sickle cell disease, prophylactic transfusion strategies targeting hemoglobin levels of 10–11 g/dL and sickle hemoglobin fractions below 30% are associated with reduced vaso-occlusive complications and improved maternal and fetal outcomes (Grade B evidence, supported by BSH, the Society for Maternal-Fetal Medicine, and observational meta-analyses). In β-thalassemia major, transfusion support during pregnancy typically requires intensification to maintain hemoglobin levels between 9.5–10.5 g/dL (Grade B, BSH guideline), particularly because interruption of iron chelation therapy during gestation increases the risk of iron overload and cardiac complications. Chinese and Southeast Asian expert recommendations similarly support maintaining hemoglobin at or above 10 g/dL to promote fetal growth and reduce maternal cardiac stress (Grade C, expert consensus). At the same time, transfusion-related complications, including alloimmunization, delayed hemolytic reactions, circulatory overload, acute lung injury, and iron toxicity, remain important clinical concerns. Overall, transfusion management in pregnancies complicated by hemoglobinopathies requires individualized, evidence-based strategies, careful surveillance for complications, and close multidisciplinary collaboration to optimize maternal and fetal outcomes, while incorporation of global and regional evidence enhances the relevance and applicability of current recommendations.
Abstract Objective: To explore the primary factors influencing monozygotic twinning (MZT) in patients undergoing assisted reproductive technology (ART) at a single center to clarify the mechanisms of MZT formation. Methods: This retrospective cohort study analyzed 2952 elective single embryo transfer (eSET) cycles conducted between December 2014 and December 2023 at the First Affiliated Hospital of Xiamen University, which resulted in 1363 clinical pregnancies. The examined variables included parental age, fertilization method, cycle type (fresh vs . frozen-thawed), and embryo stage (cleavage vs . blastocyst). Clinical pregnancy was diagnosed through human chorionic gonadotropin (hCG) levels 12–14 days post-transfer and confirmed via transvaginal ultrasound at 6–7 weeks of gestation. MZT was defined by the presence of additional gestational sacs (dichorionic) or two embryos within a single sac (monochorionic), while a monozygotic singleton (MZS) was defined as one embryo per sac. Results: The overall MZT incidence was 0.85% (25/2952) per cycle and 1.83% (25/1363) per pregnancy (1 morula, 4 cleavage-stage, and 20 blastocyst transfers). After excluding the morula case, 24 MZT pregnancies were matched 1:4 with singletons. After matching, embryo stage and cycle type (16 fresh and 8 frozen-thawed MZT cases) demonstrated no significant effect on MZT rates. When the analysis was restricted to blastocyst transfer (20 MZTs and 80 singletons), neither parental age nor cycle type showed a significant correlation with MZT occurrence, whereas the fertilization method was significantly associated with MZT frequency. Regarding embryo morphology, all 20 MZT blastocysts featured high-quality (grade A or B) inner cell masses and trophectoderms, with no grade C embryos observed. Multivariate logistic regression confirmed that the use of intracytoplasmic sperm injection (ICSI) significantly increased the risk of MZT, whereas parental age and cycle type did not. Conclusion: The fertilization method affects MZT incidence, with the ICSI procedure and sperm quality serving as key correlates. Furthermore, high-quality blastocysts may possess a higher potential for MZT, providing new insights for the development of individualized embryo transfer strategies.
Abstract. Objective:. To evaluate perinatal outcomes in twin pregnancies, comparing different gestational diabetes mellitus (GDM) subgroups with pregnancies without GDM. Methods:. A retrospective cohort study of twin pregnancies was performed from January 2014 to December 2022. GDM was diagnosed based on the International Association of Diabetes and Pregnancy Study Groups criteria for the 2-h 75-g oral glucose tolerance test. Women with twin pregnancies were divided into four groups: healthy control, impaired fasting glucose (IFG), gestational impaired glucose tolerance (GIGT), and IFG + GIGT. Poisson regression models were performed to compare perinatal outcomes between these groups, including large for gestational age, small for gestational age, gestational hypertension, preeclampsia, hypertensive disorders of pregnancy, neonatal unit admission, neonatal jaundice, and neonatal respiratory distress syndrome. Generalized estimation equation models were utilized to address intertwin correlation. Results:. A total of 2162 women with twin pregnancies were eligible for analysis. IFG was associated with an increased risk of having large for gestational age infants (adjusted risk ratio (aRR): 2.62, 95% confidence interval (CI): 1.31–5.24 in the IFG; and aRR: 2.09, 95% CI: 1.19–3.66 in the IFG + GIGT group, respectively). An increased risk of preeclampsia (aRR: 1.78, 95% CI: 1.05–3.03) and hypertensive disorders of pregnancy (adjusted odds ratio: 1.85, 95% CI: 1.05–3.27) was observed in the IFG + GIGT group. Conversely, GIGT was not associated with any adverse perinatal outcomes. Conclusion:. The present findings revealed differences in perinatal outcomes between women with twin pregnancies with subgroups of GDM and without GDM. Classification of GDM by fasting glucose and post-load glucose may benefit risk stratification in the perinatal management of twin pregnancies.
Abstract. Objective:. To address the critical unmet need in managing unexplained recurrent pregnancy loss (URPL), where current empiric therapies exhibit limited efficacy, by leveraging patient-derived organoids (PDOs) for personalized therapeutic discovery. This single-case report serves as a proof-of-concept application of PDO-guided precision therapy in URPL. Methods:. A 29-year-old woman who experienced six consecutive pregnancy losses underwent endometrial PDO-based drug testing. Organoids and stromal cells were cultured from proliferative-phase endometrial biopsies, and growth responses were subsequently quantified using RNA-seq and functional assays. Results:. Histological examination of the endometrium revealed increased fibrosis alongside reduced stromal cell and CD3+ T-cell infiltration at the maternal–fetal interface. Initial observations of the PDOs indicated that epithelial growth was delayed. A synergistic triple-therapy regimen (aspirin + low-dose heparin + almuabumab) was identified as a candidate for restoring uterine homeostasis. Combination therapy achieved an ongoing pregnancy. Following conservative management of intrahepatic cholestasis and preeclampsia, a cesarean delivery was performed at 34+1 weeks, resulting in the birth of a healthy neonate. Conclusion:. This study pioneered the use of PDOs as an innovative therapeutic model for URPL, targeting immune-thrombotic dysregulation and enabling precision therapy. These findings establish a precision medicine paradigm that integrates organoid pharmacology with dynamic pregnancy surveillance for refractory cases of URPL. However, these data are derived from a single patient and should thus be interpreted with caution, warranting confirmation in larger, prospective cohorts.
Exercise during pregnancy and the postpartum period is important for maternal and infant health. To standardize clinical practice regarding exercise for pregnant and postpartum women in China, the Chinese Society of Perinatal Medicine of the Chinese Medical Association and the China Institute of Sport Science, General Administration of Sport of China, jointly developed this expert consensus. This consensus was informed by the latest evidence from clinical research, relevant guidelines, and expert opinion. It was developed using the Delphi method through three rounds of expert consultation, together with multidisciplinary discussions, resulting in the expert consensus. This consensus addresses key topics, including eligible populations for exercise during pregnancy, exercise contraindications, exercise prescription components, and postpartum exercise, and provides 10 key recommendations. It aims to offer scientific, practical, and actionable guidance for exercise interventions among pregnant and postpartum women in China and to promote the integration of sports and medicine in perinatal health management.
