Fetal growth restriction (FGR), a major complication of pregnancy caused by placental insufficiency, substantially increases neonatal morbidity and mortality. The mechanisms by which disrupted cellular signaling at the maternal–fetal interface contributes to FGR remain poorly understood. We performed single-cell RNA sequencing to generate a high-resolution atlas of the maternal–fetal interface in monochorionic diamniotic twins with type III selective FGR, minimizing genetic and environmental confounders to reveal FGR-specific cellular alterations. Compared with controls, extravillous trophoblasts (EVTs) in FGR placentas exhibit differentiation arrest and enhanced senescence, with a distinct EVT subset co-expressing vascular-remodeling and hypoxia-adaptation genes undergoing abnormal expansion, indicative of a hypoxia–angiogenesis imbalance. Maternal vascular smooth muscle cells are enriched, whereas fetal vascular smooth muscle cells are depleted and show increased senescence. Notably, FGR placentas harbor abundant SPP1-high Hofbauer (HB) cells, with enhanced SPP1 signaling at the macrophage–trophoblast interface. Integrated single-cell analyses and in vitro co-culture assays indicate that HB-derived SPP1 is associated with suppressed trophoblast migratory and invasive programs, potentially contributing to trophoblast dysfunction and vascular abnormalities in FGR. Circulating SPP1 is elevated in mothers carrying FGR fetuses, highlighting its potential as a non-invasive biomarker. These observations are further supported by bulk transcriptomic analyses across 17 independent cohorts comprising 679 placental samples. Together, our study highlights a coordinated triad of trophoblast arrest, vascular maladaptation, and HB-derived SPP1 signaling that collectively contributes to placental dysfunction in FGR.

OBJECTIVE:To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS:By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS:The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION:Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.

OBJECTIVE(S):Fetal pleural effusion is a rare condition that may significantly impact fetal and neonatal outcomes. Currently, no universal standardized approach exists for diagnosing and managing primary fetal pleural effusions. This study aimed to develop structured, expert-based clinical guidelines for the diagnosis, monitoring, management, and follow-up care of primary fetal pleural effusion. METHODS:A Delphi method was employed to achieve consensus among an international panel of experts in fetal medicine. Experts were selected based on their clinical expertise, affiliations, and relevant publications. A three-round anonymous electronic survey was sent to the full panel. In the initial two rounds, participants rated each statement on a Likert scale (1-5) and provided suggestions for modifications. Statements with a median score of five and no suggested changes were accepted as consensus. Statements with a median score below four were rejected. Statements scoring a median of four were revised according to suggestions and reconsidered in the subsequent round. In the final round, participants indicated their agreement or disagreement with the remaining statements. Consensus was defined as agreement from more than 70% of participants with no suggestions for further changes. RESULTS:A total of 101 expert clinicians accepted the invitation and completed the first round with 73 (72%) completing all three rounds. Consensus statements were achieved on aspects of diagnosis, monitoring, intervention, post-intervention management, and delivery. Key recommendations concerning the diagnosis of primary fetal pleural effusion include the use of ultrasound as the primary modality for identifying fetal pleural effusion and excluding secondary causes through detailed genetic, infectious, and metabolic evaluations. Management strategies emphasized thoracoamniotic shunting as the preferred intervention in hydropic fetuses with primary pleural effusion. Experts reached consensus that shunt placement could be offered as early as 16 weeks. No consensus was reached for isolated effusion without hydrops, as management was considered case-dependent. The importance of ultrasonographic monitoring of fetal status at least weekly post-intervention was strongly endorsed. CONCLUSION(S):The Delphi method facilitated the development of a consensus-based protocol for diagnosing and managing primary fetal pleural effusion. These standardized guidelines are intended to enhance clinical practice across various settings, improve perinatal outcomes, and serve as a foundation for future research for this high-risk fetal condition.

Fetal microcephaly (FMIC) is a neurodevelopmental disorder with heterogeneous etiologies and uncertain prenatal prognosis. Discrepancies between prenatal and postnatal head circumference (HC) measurements may confound ultrasound-based diagnosis, underscoring the need for genetic stratification to improve risk assessment. This prospective cohort study analyzed data from 301 fetuses with suspected FMIC collected between 2014 and 2022. Trio-prenatal exome sequencing (pES) was performed in 301 fetuses with suspected FMIC and normal results on karyotyping and chromosomal microarray analysis. Diagnostic yield, molecular spectrum, and pathway enrichment were analyzed. Clinical follow-up was conducted to correlate genetic findings with postnatal neurodevelopmental outcomes. Molecular diagnoses were achieved in 41 cases (13.6

Fetal growth restriction (FGR) is a common obstetric complication where a fetus fails to reach its genetically determined growth potential. Current diagnostic methods rely on population-based fetal biometric percentiles, which struggle to distinguish pathological FGR from healthy small-for-gestational-age (SGA) infants and may miss cases of growth restriction in fetuses with a high genetic growth potential who fall above conventional SGA thresholds. This study aimed to develop a novel diagnostic framework for FGR by incorporating individualized genetic potential modeling to improve precision in identification and risk stratification. Using data from the Shanghai Birth Cohort (1,806 mother-infant pairs), fetal growth potential was calculated using a polygenic risk score for birth weight derived from fetal genome-wide association studies. A new metric, “FGR_degree,” was developed as the difference between standardized genetic growth potential and actual birth weight Z-score. Fetuses were stratified into risk categories using a dual-threshold approach: the top 10

Cardiovascular disease (CVD) remains the leading cause of global mortality, with a concerning trend toward younger onset. This shift highlights the urgent need to advance the window of attention and intervention for cardiovascular health (CVH). The Developmental Origins of Health and Disease (DOHaD) hypothesis proposes that adverse intrauterine exposures can program long-term alterations in offspring CVH, underscoring the significance of early-life origins. Maternal health conditions during pregnancy, environmental exposures, and lifestyle factors are consistently associated with adverse cardiovascular outcomes in children, including elevated blood pressure, structural and functional abnormalities, and impaired cardiometabolic profiles. These associations are mediated through pathways involving placental dysfunction, inflammation, oxidative stress, and hormonal imbalance, which collectively reshape fetal cardiovascular development and increase susceptibility to CVD later in life. From a management perspective, adverse intrauterine exposures should be integrated into pediatric CVH risk assessment, and preventive strategies should be shifted to the preconception and prenatal periods. This review highlights intrauterine environment as a critical determinant of intergenerational cardiovascular risk and emphasizes the necessity of implementing precision prevention strategies beginning from the earliest stages of life.

OBJECTIVE:To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal testing and multidisciplinary care in the next-generation sequencing (NGS) era. METHODS:Three unrelated families with recurrent male NIHF and negative chromosomal microarray analysis/NGS results were investigated. Genetic counselors conducted detailed maternal history-taking and physical examinations to identify subtle ectodermal features suggestive of IP. Targeted long-range PCR and multiplex ligation-dependent probe amplification (MLPA) were employed to bypass interference from the pseudogene IKBKGP1 and detect IKBKG exon 4-10 deletions. RESULTS:All three mothers displayed subtle ectodermal features, including hypopigmented streaks, patchy alopecia, and dental anomalies. Genetic testing revealed heterozygous IKBKG exon 4-10 deletions in all 3 mothers, and a hemizygous deletion in the third affected male fetus of Family 3-both missed by conventional short-read NGS. Prenatal ultrasound consistently demonstrated increased nuchal translucency, cervical cystic hygroma, and generalized edema, serving as early indicators of IP-related NIHF. CONCLUSION:Pseudogene-aware molecular tools combined with maternal phenotyping are essential for uncovering hidden IP and reducing unexplained fetal loss in the NGS era.

Introduction Fetal growth restriction (FGR) is the failure of fetal growth to attain inherent genetic potential owing to a diverse array of factors. Limited studies have investigated the correlation between varying levels of maternal-placental vascular malperfusion (MVM)-type FGR and adverse neonatal outcomes. Thus, we sought to explore the maternal-fetal characteristics of different degrees of MVM-type FGR and their correlation with adverse neonatal outcomes. Methods We collected all cases of FGR from 2018 to 2023 and observed the pregnancy, delivery, and newborn characteristics of FGR cases managed by a fetal medical center. General information, clinical examinations, and neonatal outcomes were recorded. Placental lesions were sampled and classified according to the 2016 Amsterdam standard, then divided into two groups based on MVM level: low-grade and high-grade. Results The high-grade MVM-type FGR group (30/94) had a higher prevalence of pregnant mothers with diabetes mellitus (P＝0.022) and hypertension (P＝0.013), higher incidence of abnormal umbilical artery pulsatility index (UA-PI) (P＝0.022) and uterine artery pulsatility index (UtA-PI) (P < 0.001), higher incidence of incomplete distal villus development (P＝0.027) and placental vascular disease (P＝0.008), higher incidence of cerebral hemorrhage (P＝0.006) and poor outcomes (P＝0.04), lower fetal weight (P＝0.026), and longer hospital stays for newborns (P＝0.018). Logistic regression analysis showed that body mass index (P＝0.04), diabetes (P＝0.033), assisted reproduction (P＝0.048), pathological placental villus overmaturity (P＝0.033) High-grade MVM (P＝0.014) were independent risk factors for adverse neonatal outcomes, fetal birth weight (P＝0.004) is an independent protective factor. Discussion High-grade MVM FGR is associated with the incidence rate of adverse neonatal outcomes, with a series of differences in the pre-pregnancy state, clinical auxiliary examination, and pathological characteristics compared with low grade MVM. Simultaneously, we found five independent risk factors and one protective factor that led to adverse neonatal outcomes in MVM group.

BackgroundEffective intrauterine treatments for placental-mediated fetal growth restriction (FGR) remain limited, necessitating reliable protein biomarkers for early diagnosis and management.MethodsIn this study, we analyzed differential protein expression in peripheral blood plasma samples from 44 placental-mediated FGR patients and 44 normal pregnant women using the Olink-Explore-384-Inflammation panel. The analysis identified significant differences in protein expression levels, followed by enrichment analyses to explore the underlying biological mechanisms. Protein-protein interaction (PPI) network analysis and Least Absolute Shrinkage and Selection Operator (LASSO) modeling were used to identify key proteins as potential biomarkers.ResultsWe identified 225 proteins with significantly altered expression between FGR patients and normal pregnancies. Proteins such as Placental Growth Factor (PGF) and Hepatocyte Growth Factor (HGF) were previously found to be strongly associated with FGR. In addition, we discovered novel proteins potentially associated with FGR, including ESM1 and TIMP3. Enrichment analyses revealed that several pathways, including placental dysfunction, inflammatory responses, and oxidative stress, may play crucial roles in FGR pathophysiology. PPI network analysis further identified key proteins such as ANGPT2, CD40, and HGF, as potentially linked to FGR. LASSO modeling validated PGF and ESM1 as important biomarkers. Additionally, integrating a multi-protein panel with blood flow disruption analysis significantly improved diagnostic accuracy.ConclusionOur findings provide valuable insights into the molecular mechanisms of FGR, identifying key proteins as potential biomarkers. The multi-protein panel model offers a promising tool for early screening and diagnosis of FGR.

Recently, the necessity of the term "small for gestational age" (SGA) has been questioned in fetal growth studies.1 Researchers have argued that, while this term describes fetuses of small size, it does not necessarily indicate fetal growth restriction (FGR), which can have both short- and long-term consequences. Consequently, its use in fetal growth studies may introduce bias. Although it is acknowledged that not all small fetuses have a pathological condition and any size can potentially be pathological,2 we believe that the term SGA remains irreplaceable in clinical practice. To date, international guidelines continue to exhibit discrepancies regarding the definitions of SGA and FGR, as illustrated in the Fig. 1, which depicts their relationships among different birth weights. A consensus has been reached that SGA is primarily a morphological descriptor, whereas FGR should be assessed more comprehensively based on pathological considerations (maternal, fetal, or placental). However, only a few guidelines (such as those of the Royal College of Obstetricians and Gynecologists and the French College of Gynecologists and Obstetricians) mention the identification of FGR among fetuses heavier than the 10th percentile, and no universally recognized methods have been widely adopted.3 In this regard, Hiersch and Melamed4 suggested the use of dynamic mathematical models (e.g., projection-based method, conditional percentile method) to evaluate fetal growth potentials or other body indexes, such as the head circumference-to-abdominal circumference (AC) ratio or femur length-to-AC ratio, to assess fetal growth symmetry. This approach can contribute to the effective differentiation of healthy infants who are SGA from larger infants with FGR in the absence of pathological abnormalities.Figure 1.: The relationship and distribution of SGA and FGR. With the term SGA, although a small proportion of affected fetuses may be over-treated, the majority of FGR is still correctly identified. Individualized growth assessments are strongly recommended to enable the precise recognition of FGR among fetuses within the entire weight spectrum. AGA: Adequate for gestational age; FGR: Fetal growth restriction; LGA: Large for gestational age; SGA: Small for gestational age.In China, according to the Chinese Expert Consensus on Fetal Growth Restriction (2019),5 SGA is defined as all fetuses with an estimated fetal weight (EFW) or AC below the 10th percentile, including those who have achieved their genetic growth potential. Conversely, FGR typically refers to any pathological reason that prevents the fetus from meeting its growth potential and is mostly identified by an EFW or AC below the 10th percentile. The significance of SGA lies in its ability to stratify high-risk fetuses. On the one hand, it provides obstetricians with a time window to identify potential pathological causes of delayed FGR presentation. However, given the current challenges in clinically popularizing well-fitted personalized fetal growth assessments, even when facing the risk of overtreatment, from a health-economic perspective, spending money on prenatal assessments is much more cost-effective than addressing possible short- and long-term health consequences after birth. In summary, we believe that two dilemmas should be addressed: first, promoting the application of individualized fetal growth assessments; and second, studying the long-term development of healthy SGA fetuses. Until these issues are resolved, it is necessary to maintain this specific category in clinical practice. Funding This research was supported by the National High Level Hospital Clinical Research Funding (22cz020401-4811009). Author Contributions Xinyu Shu and Xin Kang were responsible for drafting the original manuscript and conceptualizing the overall framework of the work. Mi Yao and Luming Sun played a crucial role in reviewing and editing the manuscript. Ye Li contributed to the visualization aspect of the work. Huixia Yang, in addition to reviewing and editing the manuscript, was also responsible for acquiring the funding that made this research possible. Conflicts of Interest None. Editor Note Huixia Yang and Luming Sun are editorial board members of Maternal-Fetal Medicine. The article was subject to the journal's standard procedures, with peer review handled independently of this editor and the associated research groups. Data Availability Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

Objectives To evaluate the placental vascular architecture using MV Flow™ imaging for analyzing vascular distribution per region of biological tissue in isolated congenital heart diseases (CHD), CHD associated with extracardiac malformations (EXM) and normal pregnancies, and to explore the relationship of fetal Doppler flow parameters and growth to placental perfusion in these conditions. Methods Placental microvascular structure was assessed using MV‐Flow™ in a total of 227 normal fetuses and 139 with CHD; fetuses with gestational age ranging from 11 to 41 weeks were included. Placental vascular indices (VI MV %) was acquired at three different segments of each placenta (upper, middle, and lower regions). Doppler pulsatility indices of fetal umbilical artery (UA), middle cerebral artery (MCA), ductus venosus (DV), uterine artery (UtA), and cerebroplacental ratio were measured in both normal and CHD groups. The CHD group was divided into two subgroup based on whether it is associated with EXM. Results Compared to the control group, the CHD with EXM group exhibited a significantly lower VI MV % for the upper, middle, and lower regions of the placenta ( P = .005; P = .018; P = .039, respectively). In the total CHD group, VI MV % decreased in the middle segment of placenta in the 2nd trimester compared to the control group. But the VI MV % of upper and middle segments decreased in the 3rd trimester. Both subgroups, EXM and isolated CHD, showed similar distribution of gestational weeks. Doppler vascular indices were significantly different compared to normal in the total CHD group for UA‐pulse index (PI), DV‐PI, right UtA‐PI, and left UtA‐PI, with similar differences from normal for the CHD with EXM group. DV‐PI was the only significantly different Doppler vascular parameter for the isolated CHD group compared to normal. Conclusions For the first time, MV‐Flow™ imaging demonstrated reduced placental vascularity in fetuses with CHD and ECM and in fetuses with isolated CHD in the 3rd trimester of pregnancy. Application of MV‐Flow™ as part of serial fetal echocardiographic surveillance in cases of CHD may allow for better understanding of the development of placental abnormalities.

Decabromodiphenyl ethane (DBDPE), a newly emerging brominated flame retardant (BFR), has garnered increasing attention due to its high production volumes and widespread usage, prompting worries about its possible impacts on human well-being. Prior investigations have highlighted the substantial toxicity of DBDPE to the thyroid, liver, and cardiovascular systems, yet its effects on fetal growth and development remain inadequately understood. This investigation aims to elucidate the underlying mechanisms and consequences of DBDPE exposure on fetal growth and development through both in vivo and in vitro models. Pregnant mice were administered DBDPE orally at doses of 0, 0.05, 0.5, and 5 mg/kg bw/day. Results revealed that gestational DBDPE exposure caused placental damage, resulting in fetal growth restriction (FGR). A significant reduction in the phosphorylation level of AIFM1 Ser116 in placental trophoblasts was observed, specifically correlating with the activation of oxeiptosis. Metabolomic and transcriptomic analyses further suggested that DBDPE exposure disrupts the oxidative phosphorylation (OXPHOS) pathway, thereby impairing mitochondrial function. Notably, treatment with MitoQ, a mitochondria-targeted antioxidant, effectively reversed DBDPE-induced oxeiptosis in placental trophoblasts, alleviating the negative effects of DBDPE on placental damage and FGR. Mechanistically, the mitochondrial dysfunction induced by gestational DBDPE exposure initiates oxeiptosis in placental trophoblasts, exacerbating placental injury and ultimately leading to FGR. In summary, this study integrates the roles of environmental pollutants, oxeiptosis, and mitochondrial dysfunction, offering new insights into the toxicological mechanisms by which DBDPE and other emerging pollutants impact fetal growth and development.

BACKGROUND:Accurate detection of fetal cardiac time intervals is essential for diagnosing arrhythmias, yet conventional echocardiography cannot record fetal cardiac electrical activity. Fetal magnetocardiography (fMCG) offers precise, noninvasive detection, but clinical evidence remains limited. OBJECTIVE:This study aimed to evaluate the efficacy and safety of fMCG for detecting fetal cardiac magnetic signals, by comparison with fetal electrocardiography (fECG). METHODS:We conducted a 2-center, single-arm, prospective trial involving 342 pregnant women aged ≥18 years with gestational ages of >18 weeks. Each participant underwent both fECG and fMCG on the same day, with cardiac time intervals recorded. The primary end point was the detection rate of fetal cardiac waveforms reflecting atrial and ventricular rhythm relationships. RESULTS:In the full analysis set (n = 342), fMCG demonstrated a significantly higher detection rate for QRS complexes and RR intervals than fECG (87.98% vs 78.95%; P < .01), with a rate difference of 9.03% (95% confidence interval 3.50-14.56). Similar results were observed in the per-protocol set (n = 340; fMCG 87.94% vs fECG 79.41%; P < .01). Notably, only fMCG could reliably detect PR intervals (86.22%), P waves (86.22%), T waves (78.89%), and QT/corrected QT intervals (78.89%). Adverse events were rare (n = 1; 0.29%) and unrelated to the device. CONCLUSION:fMCG was superior to fECG in detecting RR and QRS signals. Moreover, fMCG uniquely enabled visualization of other intervals critical to arrhythmia diagnosis. It also exhibited a favorable safety profile, supporting its potential in fetal cardiac monitoring.

Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by defects in telomere biology and clinical manifestations such as nail dystrophy, skin pigmentation abnormalities, and mucosal leukoplakia. Here, using whole exome sequencing (WES), whole genome sequencing (WGS), optical mapping sequencing (OGM), third-generation sequencing, and mRNA sequencing, we diagnosed a participant with PARN gene complex compound heterozygous variants. In addition, protein structure simulation, immunohistochemistry, and western blot were conducted to investigate the structure and expression level of the PARN protein. WES revealed a maternal PARN variant, c.204G>T (p.Gln68His) (NM_002582.3). An insertion variant in the PARN gene from the father was identified by OGM and mRNA sequencing. Third-generation sequencing results determined the insertion position of the SINE-VNTR-Alu (SVA) transposon and its size (2537 bp), which was found to lead to a premature stop codon (p.Gly469delinsGlu∗). The PARN protein level of the parents was reduced due to complex heterozygous variants. Overall, OGM diagnosed the structural variants of the participant with DC, supplementing the disease variant spectrum of DC. This case highlights a novel disease-causing structural variant and the importance of transposon analysis in a clinical diagnostic setting.

OBJECTIVE:To investigate the prevalence and trend in depression during antenatal and two-year postpartum periods in the USA. METHODS:Using the data from the National Health and Nutrition Examination Survey (NHANES) from 2007 to 2018, 1099 adult pregnant women and women within 24 months postpartum were included. The depression status was defined as having a patient health questionnaire (PHQ-9) score. RESULTS:The estimated prevalence of overall and moderate-to-severe depressive symptoms was 29.7% (95% confidence interval [CI]: 26.1%-33.3%) and 13.7% (95% CI: 11.1%-16.2%), respectively, which did not change apparently from 2007 to 2018. Stratified analyses confirmed a substantial upward trend in the prevalence of moderate-to-severe depressive symptoms among women aged 26-35 years, from 7.5% (95% CI: 1.2%-13.8%) in 2007-2008 to 17.2% (95% CI: 7.7%-26.7%) in 2017-2018 (P for trend = 0.019), with a 5.7% relative increase (95% CI: 1.5%-10.2%) per two-year cycle. In the whole population, the prevalence of moderate-to-severe depressive symptoms was 10.4% (95% CI: 6.6%-14.1%) in pregnancy, 13.9% (95% CI: 9.7-18.0) in the first year postpartum, to 16.8% (95% CI: 11.3%-22.3%) in the second year postpartum, P for trend = 0.047. In maternal women with depressive symptoms, 36.1% (95% CI: 25.0%-47.1%) had moderate-to-severe type in pregnancy, 47.7% (37.2%-58.1%) in the first year postpartum, and 53.1% (95% CI: 43.4%-62.9%) in the second year postpartum, P for trend = 0.038. CONCLUSION:In general, the prevalence of moderate-to-severe depressive symptoms has remained relatively stable during 2007-2018, but it still tended to be severe in certain subgroups of the population and deserves more concern.

To assess the utility of urinary misfolded proteins (MP) in predicting preeclampsia (PE) in high–risk twin pregnancies. A prospective study was conducted on 600 high–risk twin pregnancies at Shanghai First Maternity and Infant Hospital from March to August 2021. Clinical data were collected, and urinary MP levels were measured. Subsequently, fetal outcomes were monitored. The patients were categorized into three groups based on the presence of PE: unaffected PE group, early–onset PE (ePE) group (gestational age < 34 weeks), and late–onset PE (lPE) group (gestational age ≥ 34 weeks). The predictive value of MP in PE was evaluated using analysis of variance, Chi–square test, and ROC curve analysis. A total of 464 twin pregnancies were included in the study, among which 66 cases (14.2

The China Prospective Multi-Center Birth Cohort Study was launched in 2022. In collaboration with medical centers in 12 cities, it aims to establish a high-quality, multidimensional cohort comprising 20,000 natural pregnancy and assisted reproductive families. As of June 26, 2024, 12,911 pregnant women have participated in this study, and 161,122 biological samples have been collected. These samples cover four critical periods (early pregnancy, mid-pregnancy, late pregnancy, and postpartum) and comprise 10 different types such as serum, plasma, and urine. The study has collected comprehensive information from early pregnancy to newborns. The participants have an average age of 29.76 years, an average height of 160.46 cm, an average pre-pregnancy BMI of 23.11, and an average BMI of 27.25 before delivery. The cohort includes individuals from 26 ethnic groups, with 25 minority groups comprising 5.03

The study is to explore the feasibility and value of SNP-based noninvasive prenatal diagnosis (NIPD) for facioscapulohumeral muscular dystrophy type 1 (FSHD1) in early pregnancy weeks. We prospectively collected seven FSHD1 families, with an average gestational age of 8+6. Among these seven couples, there were three affected FSHD1 mothers and four affected fathers. A multiplex-PCR panel comprising 402 amplicons was designed to selective enrich for highly heterozygous SNPs upstream of the DUX4 gene. Risk haplotype was constructed based on familial linkage analysis. Fetal genotypes were accurately inferred through relative haplotype dosage analysis using Bayes Factor. All tests were successfully completed in a single attempt, and no recombination events were detected. NIPD results were provided within a week, which is 4 weeks earlier than karyomapping and 7 weeks earlier than Bionano single-molecule optical mapping (BOM). Ultimately, five FSHD1 fetuses and two normal fetuses were successfully identified, with a 100% concordance rate with karyomapping and BOM. Therefore, SNP-based NIPD for FSHD1 was demonstrated to be feasible and accurate in early weeks of gestation, although the risk of recombination events cannot be completely eliminated. In the future, testing of more cases is still necessary to fully determine the clinical utility.