Journal of Perinatal Medicine最新文献

{"title":"The fetal exposome and preterm birth: a systematic synthesis of environmental exposures and multi-omics evidence.","authors":"Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Nuswil Bernolian, Cut Meurah Yeni, Anak Agung Gede Putra Wiradnyana, I Nyoman Hariyasa Sanjaya, Muhammad Ilham Aldika Akbar, Ernawati Darmawan, Sri Sulistyowati, Milan Stanojevic, Asim Kurjak","doi":"10.1515/jpm-2025-0231","DOIUrl":"10.1515/jpm-2025-0231","url":null,"abstract":"<p><strong>Objectives: </strong>Preterm birth (PTB), defined as delivery before 37 weeks of gestation, is a leading cause of neonatal mortality and long-term developmental impairment. Its complex etiology, spanning environmental, genetic, psychosocial, and socio-economic domains, limits effective prediction and prevention. We systematically synthesized evidence on how environmental exposures influence PTB risk through multi-omic disruptions within a fetal exposome framework.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted in major biomedical databases, following PRISMA guidelines. Ninety-five human studies published through May 2025 were included, encompassing exposures such as ambient air pollution, endocrine-disrupting chemicals, maternal stress, nutrition, occupational hazards, climate variability, and microbiome alterations. Two reviewers independently extracted data (exposure type, omics platform, biospecimen, PTB subtype) with inter-rater reliability assessment, and study quality was evaluated using the Newcastle-Ottawa Scale. Findings were narratively stratified by exposure category, study design, and spontaneous vs. indicated PTB.</p><p><strong>Results: </strong>Environmental exposures were consistently associated with disruptions in oxidative stress, inflammation, immune regulation, hormonal signaling, placental aging, and microbial ecology, mediated by multi-omic signatures in maternal, placental, and fetal tissues. Candidate biomarkers show promise for early risk stratification but lack validation and population-level predictive performance due to heterogeneous exposure assessment and study design.</p><p><strong>Conclusions: </strong>Integrating fetal exposome concepts with multi-omics enhances mechanistic insight into PTB risk and may support biomarker discovery and precision-guided prenatal interventions. Clinical translation requires standardized exposure measurement, biomarker validation, and equity-focused implementation.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"391-407"},"PeriodicalIF":1.4,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145533865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical factors in SARS-CoV-2 antibody response in unvaccinated mothers.","authors":"Mirjam Druškovič, Gorazd Kavsek, Vita Andreja Mesarič, Aleksandra Strukelj, Tatjana AvšiČ Županc, Alojz Ihan, Tanja Premru Sršen","doi":"10.1515/jpm-2025-0349","DOIUrl":"10.1515/jpm-2025-0349","url":null,"abstract":"<p><strong>Objectives: </strong>Understanding the clinical factors influencing the SARS-CoV-2 antibody response during and after pregnancy is critical for optimizing maternal care and vaccination strategies. This prospective cohort study aimed to evaluate associations between maternal clinical characteristics and SARS-CoV-2-specific IgG and IgA antibody levels at delivery and 42 days postpartum in unvaccinated pregnant women.</p><p><strong>Methods: </strong>A total of 387 pregnant women with confirmed SARS-CoV-2 infection during pregnancy were included. SARS-CoV-2 infection was confirmed using real-time RT-PCR. Clinical data, including age, body mass index (BMI), smoking status, pre-existing morbidities, and obstetric complications, were recorded. SARS-CoV-2-specific IgG and IgA antibodies were quantified using ELISA at delivery and 42 days postpartum.</p><p><strong>Results: </strong>Higher preconception BMI significantly correlated with increased odds of detecting IgG and IgA antibodies at both delivery and postpartum assessments (p<0.05), independently of maternal age and chronic diseases. Women without chronic systemic diseases exhibited lower antibody levels at delivery, whereas smokers had significantly lower odds of IgG antibody presence at delivery. Additionally, pre-existing cardiovascular diseases were associated with reduced antibody presence at six weeks postpartum. Other clinical parameters did not show significant associations.</p><p><strong>Conclusions: </strong>Preconception BMI and pre-existing systemic diseases may modulate SARS-CoV-2 antibody responses in pregnant women. These clinical factors should inform assessments of maternal and neonatal infection risks and guide vaccination strategies in pregnant populations. Further research is needed to elucidate the mechanisms underlying these associations.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"173-182"},"PeriodicalIF":1.4,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145530694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy-associated anemia and its effects in term neonates.","authors":"Rita P Verma, Neeti Luke, Zhe Zhou","doi":"10.1515/jpm-2025-0386","DOIUrl":"10.1515/jpm-2025-0386","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the implications of maternal anemia in term neonates.</p><p><strong>Methods: </strong>In a population-based retrospective cohort study, standard demographic and clinical variables noted during post-birth hospitalization in term neonates were compared across groups stratified by maternal anemia in a racially diverse population.</p><p><strong>Results: </strong>Of 474 maternal-neonatal dyads, 66.03 % were Hispanic (H), 15.8 % Black (B), 7.3 % non-Hispanic White (NHW), and 10.7 % Asian/Pacific Islanders (AP). 39.6 % of H, 57.3 % of B, 65.7 % of NHW, and 37 % of AP mothers were anemic, with significantly higher prevalence in NHW and B compared to H. 12.8 % of all anemia cases had moderately severe anemia (hematocrit<30 %). Body mass index was lower, and gravidity, hypertension, and Cesarean-section rates were higher in anemic mothers, while feeding difficulty, hospitalization duration, and Neonatal intensive care unit admission rate were higher in the neonates born to them. Mothers with moderately severe anemia were younger, had higher parity, and a higher prevalence of antepartum hemorrhage compared to the mild anemia group. Their offspring, although not small for gestational age, had lower birth weights. The adverse maternal-neonatal outcomes associated with anemia were less common in the Hispanic mother-infant dyads compared to the B and NHW.</p><p><strong>Conclusions: </strong>Maternal anemia is associated with significant complications in term neonates and their mothers. There is a racial disparity in its prevalence and associated maternal-neonatal complications. The cultural-biological etiopathogenesis of this observation warrants further investigation. Optimization of antenatal care and targeted interventions could improve the outcomes and prevalence in at-risk populations.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"408-414"},"PeriodicalIF":1.4,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145504965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative effectiveness of oxytocin, carbetocin, and tranexamic acid for postpartum hemorrhage prevention in cesarean deliveries: a prospective cohort analysis.","authors":"Beyzanur Kahyaoğlu, Rezzan Berna Temoçin, Mehmet Güçlü, Mehmet Mete Kırlangıç, Elif Ünlügedik Sayın, Ahmet Özkul","doi":"10.1515/jpm-2025-0250","DOIUrl":"10.1515/jpm-2025-0250","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the comparative effectiveness of four pharmacologic regimens - oxytocin, carbetocin, oxytocin plus tranexamic acid (TXA), and carbetocin plus TXA - for postpartum hemorrhage (PPH) prophylaxis in cesarean deliveries.</p><p><strong>Methods: </strong>This prospective cohort study was conducted at a tertiary center in Istanbul, Turkey, between March 2024 and January 2025. A total of 400 women undergoing cesarean delivery at 34+0-39+6 weeks of gestation were sequentially assigned to one of four prophylactic intervention groups (n=100 each): oxytocin, oxytocin+TXA, carbetocin, or carbetocin+TXA. Medications were administered post-placental delivery. Third-stage labor management was standardized. Primary outcomes included estimated blood loss (EBL), 24-h hemoglobin change (ΔHb), and need for transfusion or intravenous iron. Baseline neonatal characteristics, including birthweight and Apgar scores, were recorded to ensure comparability across groups.</p><p><strong>Results: </strong>Baseline characteristics were similar across groups. Hemoglobin decline differed significantly (p=0.015), being lowest in the carbetocin+TXA group (7.73 ± 6.68 %) and highest in the oxytocin group (10.70 ± 7.23 %). Although mean EBL was lowest in the carbetocin+TXA group, the difference was not statistically significant (p=0.172). Transfusion and iron supplementation rates were low and comparable. No adverse neonatal outcomes were observed.</p><p><strong>Conclusions: </strong>Carbetocin combined with TXA was associated with the most favorable hematologic profile. These findings support the use of multimodal pharmacologic strategies for PPH prevention in cesarean births and may inform future protocol development.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"318-324"},"PeriodicalIF":1.4,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145458844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal and neonatal outcomes of ultrasound-guided percutaneous nephrostomy for symptomatic hydronephrosis in pregnancy: a retrospective cohort study.","authors":"Ozan Karadeniz, Bugra Tunc, Alperen Ince, Ecem Oksen, Ali Dablan","doi":"10.1515/jpm-2025-0284","DOIUrl":"10.1515/jpm-2025-0284","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the maternal and neonatal outcomes of pregnant patients who underwent ultrasound-guided percutaneous nephrostomy for the management of symptomatic hydronephrosis.</p><p><strong>Methods: </strong>This retrospective cohort study evaluated 85 pregnant patients with symptomatic hydronephrosis (≥ Grade 2) managed at a tertiary center between January 2020 and February 2025. Participants were stratified into ultrasound-guided PCN (n=43) and conservative management (n=45) groups. The primary outcome of this study was to evaluate the safety and efficacy of ultrasound-guided PCN in pregnant patients with symptomatic hydronephrosis.</p><p><strong>Results: </strong>Demographic characteristics were similar between groups. Abdominal pain was more common in the conservative group (45.5 % vs. 26.8 %, p=0.062), while other clinical and laboratory parameters showed no significant differences. Antibiotic use differed significantly (p=0.016), though urine culture results were comparable. Pregnancy and neonatal outcomes, including gestational age at delivery, birth weight, Apgar scores, cesarean delivery rates, and neonatal intensive care unit (NICU) admission rates, did not differ significantly between groups (all p>0.05). Kaplan-Meier survival analysis demonstrated no statistically significant difference in cumulative live birth rates between the PCN and conservative treatment groups (log-rank test, p=0.665), with hazard ratios indicating comparable reproductive outcomes over time.</p><p><strong>Conclusions: </strong>This study demonstrates that ultrasound-guided PCN is a safe and effective intervention for managing symptomatic hydronephrosis during pregnancy, with favorable maternal and neonatal outcomes. Further prospective studies with larger cohorts are warranted to validate these findings and refine clinical guidelines.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"362-370"},"PeriodicalIF":1.4,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145422106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management and outcomes of periviable infants in Slovenia: a decade of experience.","authors":"Polona Rajar, Tamara Čopi, Mateja Sladič, Marijana Vidmar Šimic, Lilijana Kornhauser Cerar","doi":"10.1515/jpm-2025-0465","DOIUrl":"10.1515/jpm-2025-0465","url":null,"abstract":"<p><strong>Objectives: </strong>To determine rates of active approach, mortality, and morbidity for periviable infants at level 3 maternity hospital between 2013 and 2022.</p><p><strong>Methods: </strong>Single center retrospective cohort study including mothers and their liveborn infants at gestational age from 22⁺⁰ weeks to 24⁺⁶ weeks during a ten-year period. Clinical data regarding pregnancy, delivery, neonatal mortality, and morbidity were collected from the Vermont Oxford Network (VON) database.</p><p><strong>Results: </strong>A total of 185 liveborn infants with gestational age (GA) from 22⁺⁰ to 24⁺⁶ weeks were included. A high proportion of the most immature infants were not treated actively (92 % infants born at 22 weeks of GA died in delivery room). Survival rates according to GA were 4 % (22 weeks), 40.7 % (23 weeks), and 65.1 % (24 weeks). Of the infants admitted to the neonatal intensive care unit (n=142), 25.3 % had severe intraventricular hemorrhage (grade III or IV) or periventricular leukomalacia, 13.4 % underwent abdominal surgery (due to necrotizing enterocolitis), and 17.6 % required laser treatment for retinopathy of prematurity. Supplemental oxygen at 36 weeks postmenstrual age was required by 40.8 % infants.</p><p><strong>Conclusions: </strong>At our center, which cares for more than 90 % of periviable newborns born in Slovenia, we achieved comparable survival and morbidity outcomes for actively approached liveborn periviable infants compared to those from developed countries reported in the literature. In the future, we aim to implement active antenatal care for pregnant women and infants born after completed 22 weeks of gestation and monitor the long-term outcomes of all infants born at the limit of viability.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"93-99"},"PeriodicalIF":1.4,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145431578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful management of severe hemolytic disease of the fetus and newborn (HDFN) due to anti-Kell.","authors":"Erika Hrastar, Irena Bricl, Tanja Premru-Sršen, Jakob Gubenšek, Lilijana Kornhauser Cerar, Polona Pečlin","doi":"10.1515/jpm-2025-0347","DOIUrl":"10.1515/jpm-2025-0347","url":null,"abstract":"<p><strong>Objectives: </strong>Hemolytic disease of the fetus and newborn (HDFN) is a potentially life-threatening condition, caused by maternal alloimmune antibodies targeting fetal red blood cells. This report aims to present a case of severe early-onset anti-K-mediated HDFN, managed successfully with intravenous immunoglobulin (IVIG), therapeutic plasma exchange (TPE) and intrauterine transfusion (IUT), and to discuss comparable alternative approaches reported in the literature.</p><p><strong>Methods: </strong>We treated a 32-year old woman in her third pregnancy with a high titer of anti-K alloantibodies (1:2048), detected in the first trimester. Weekly IVIG therapy of 1 g/kg was initiated at 15 weeks of gestation, followed by four TPEs and two IUTs. Due to suspected fetal anemia at 33 weeks of gestation, we opted for delivery. The newborn required phototherapy and erythropoietin treatment, with normal development at age two.</p><p><strong>Results: </strong>To contextualize our approach, we reviewed published cases of anti-K-mediated HDFN and compiled a comparative table of treatment strategies and outcomes. Analysis showed that treatment protocols varied in IVIG dosing, TPE use, and timing, reflecting the absence of standardized approaches. These strategies were associated with delayed IUT and improved neonatal outcomes following prior fetal losses.</p><p><strong>Conclusions: </strong>Our case, along with the review of published cases, supports the use of IVIG, with or without TPE, in managing anti-K alloimmunized pregnancies. The variability in treatment approaches underscores the need for individualized care based on maternal antibody titers, fetal antigen status, and disease progression, while emphasizing the importance of standardized protocols and prospective studies to guide optimal management.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"100-107"},"PeriodicalIF":1.4,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145422050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The incidence and outcomes of perinatal asphyxia in spontaneous extreme preterm birth: a retrospective cohort study.","authors":"Zohal Faiz, Eline van 't Hof, Marjon de Boer, Timo R de Haan, Mirjam Weissenbruch, Arthur Klautz, Pien Lippes, Ben Willem Mol, Christianne de Groot, Petra Bakker","doi":"10.1515/jpm-2025-0309","DOIUrl":"10.1515/jpm-2025-0309","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the incidence and outcome of perinatal asphyxia (PA) in spontaneous extreme preterm birth (PTB) between 24 and 28 weeks gestation.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study (2010-2019) at a Dutch tertiary center, including singleton spontaneous PTBs with active neonatal management. PA was defined as a 5-min Apgar score ≤5, umbilical artery pH≤7.00, base deficit >12 mmol/L, and need for ongoing resuscitation. Cases were classified as proven PA (all criteria met), suspected PA (Apgar≤5 only if blood gas data missing), or no PA. Neurodevelopment was assessed at 2 years corrected age. Multiple imputation addressed missing data. Logistic regression, adjusted for gestational age (GA), was used to evaluate associations with infant mortality, cerebral injury, and neurodevelopmental impairment (NDI).</p><p><strong>Results: </strong>Among 138 neonates, 84 % had no PA, 12.3 % suspected PA, and 3.6 % proven PA. After imputation, the estimated incidence of PA was 5.0 %. PA was not significantly associated with infant mortality (aOR 1.07; 95 % CI 0.13-8.87; p=0.95) or intraventricular hemorrhage (aOR 1.62; 95 % CI 0.26-10.39; p=0.61). NDI occurred in two infants with PA.</p><p><strong>Conclusions: </strong>PA occurred more frequently in this extreme preterm cohort than in term neonates, yet did not independently influence mortality or morbidity. A major limitation is the use of ACOG criteria, originally developed for term births, which may have led to over- or underestimation of PA's true incidence and impact. Although based on few confirmed cases, findings suggest PA, may not be a major independent predictor of adverse outcome in extreme PTB.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"309-317"},"PeriodicalIF":1.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145390700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Placenta-oriented counseling: challenges and opportunities in obstetric practice.","authors":"Polona Pečlin","doi":"10.1515/jpm-2025-0361","DOIUrl":"10.1515/jpm-2025-0361","url":null,"abstract":"<p><p>Placental histopathology is an invaluable yet underutilized resource in obstetric care. While it offers unique insights into the etiology of adverse pregnancy outcomes, its clinical integration is often limited by inconsistencies in placenta submission, reporting delays, lack of standardized interpretation, and limited interdisciplinary dialogue. Certain placental abnormalities provide immediate clinical insights, guiding acute management decisions, while others indicate an increased risk of recurrence in future pregnancies. Additionally, many lesions help contextualize antenatal findings or clarify postnatal complications, offering valuable diagnostic and prognostic information. The article reviews the spectrum of placental lesions, ranging from common findings to rare high-risk entities, and their implications for future pregnancy outcomes. It examines both the persistent challenges and emerging opportunities associated with placenta-oriented counseling in modern obstetric practice. It also explores strategies for translating placental findings into actionable care, emphasizing the importance of implementing structured, multidisciplinary review processes. Furthermore, it highlights how placental histologic findings must be interpreted within the broader clinical context, considering maternal history, laboratory investigations, microbiological cultures, genetic analyses, and neonatal outcomes, to ensure their diagnostic relevance and support informed patient-centered decision-making focused on the maternal-placental-fetal triad.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"152-160"},"PeriodicalIF":1.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145390657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) - four-year single center experience.","authors":"Katleen Janssens, Marjan De Rademaeker, Joke Muys, Bettina Blaumeiser, Katrien Janssens","doi":"10.1515/jpm-2025-0302","DOIUrl":"10.1515/jpm-2025-0302","url":null,"abstract":"<p><strong>Objectives: </strong>This study evaluates the diagnostic yield of prenatal whole exome sequencing (WES) and its impact on outcome, such as termination of pregnancy (TOP) or neonatal management.</p><p><strong>Methods: </strong>A retrospective analysis of more than 4 years of prenatal WES at a single genetic center was performed. Inclusion criteria included normal genome-wide deletion/duplication analysis and ≥1 ultrasound anomaly. Trio analysis was performed, filtering for <i>de novo</i>, compound heterozygous, homozygous, and hemizygous variants, complemented by a genome-wide phenotype-driven analysis.</p><p><strong>Results: </strong>(Likely) pathogenic variants fitting the phenotype were identified in 36 of 171 cases (21.1 %), of which 19 were <i>de novo</i>, 14 autosomal recessive, one autosomal dominant, and 2 X-linked dominant. Median turnaround time was 16 days. Parents opted for TOP in 21 cases, three resulted in intrauterine death, 11 were carried to term and one was lost to follow-up. Among the neonates, the diagnosis led to optimized postnatal management in 8/11 (72.7 %), abstinence of care in two (18.2 %) and exclusion of syndromic disorders in one (9.1 %).</p><p><strong>Conclusions: </strong>Our findings indicate that in 1/5 pregnancies with ultrasound anomalies and normal deletion/duplication analysis, a (likely) pathogenic variant explaining the phenotype can be identified. The high proportion (17/36 or 47.2 %) of inherited variants highlights the importance of WES for recurrence risk assessment.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"340-353"},"PeriodicalIF":1.4,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145372377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}