Journal of Perinatal Medicine最新文献

{"title":"Risk factors for primary cesarean delivery in women with gestational diabetes mellitus: a predictive model for clinical risk assessment.","authors":"Lili Zheng, Hongfang Kong, Fang Wang, Yuan Su, Yaqing Chang, Hong Xin","doi":"10.1515/jpm-2025-0245","DOIUrl":"10.1515/jpm-2025-0245","url":null,"abstract":"<p><strong>Objectives: </strong>Gestational diabetes mellitus (GDM) is associated with complications such as fetal macrosomia, shoulder dystocia, and prolonged labor, making cesarean section an important delivery option to reduce maternal and neonatal risks. This study aims to identify factors associated with cesarean delivery in women with GDM and to develop a predictive model for clinical risk assessment.</p><p><strong>Methods: </strong>This retrospective cross-sectional study included 2,276 GDM patients who were delivered at a tertiary hospital from January 2020 to December 2023. Data on age, BMI, gravidity, abortion history, and family history of diabetes were collected. Patients were grouped by delivery mode. ANOVA/Kruskal-Wallis, chi-square test, Pearson correlation, and stepwise logistic regression were used to identify independent predictors. Two prediction models were developed and evaluated using ROC curves.</p><p><strong>Results: </strong>Among all included GDM patients, 200 (8.79 %) underwent cesarean section. The average age and BMI were 30.8 ± 3.9 years and 23.658 ± 4.221, respectively. Cesarean section rates increased with rising BMI (p<0.05). Significant differences among BMI groups were observed in age, number of pregnancies, miscarriage history, family history of diabetes, HbA_1c, hemoglobin (HGB), and platelet count (PLT) (all p<0.05). BMI was correlated with adjusted BMI, HbA_1c, HGB, and PLT. Logistic regression identified six independent predictors of cesarean section: BMI, adjusted BMI, HGB, PLT, prothrombin time (PT), and D-dimer. Model one showed good predictive ability (AUC=0.792). After optimization, Model two (including BMI grouping, number of miscarriages, and HbA_1c) performed better (AUC=0.842).</p><p><strong>Conclusions: </strong>A multi-parameter model demonstrates strong potential for predicting cesarean risk in GDM patients and may assist clinical decision-making.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":"54 2","pages":"325-332"},"PeriodicalIF":1.3,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325995","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":"Intra-partum and perinatal outcomes in fetuses exhibiting ZigZag pattern on cardiotocography trace: a systematic review and meta-analysis.","authors":"Luca Finadri, Ilenia Mappa, Asma Khalil, Giuseppe Rizzo, Alessandro Lucidi, Daniele Di Mascio, Marco Liberati, Edwin Chandraharan, Francesco D'Antonio","doi":"10.1515/jpm-2025-0279","DOIUrl":"10.1515/jpm-2025-0279","url":null,"abstract":"<p><strong>Objectives: </strong>Historically, baseline fetal heart rate variability (FHRV) with an amplitude of greater than 25 beats per minute, and lasting for more than 30 min, was defined as the saltatory pattern. Several experimental animal models have reported an association between saltatory pattern and poor perinatal outcomes. However, recent studies have suggested that the classically defined saltatory pattern is very uncommon during labor, and a new CTG pattern, called the \"ZigZag\" pattern (ZZP), has been reported. ZZP has been defined as a rapid, erratic repetitive oscillations in the FHR with an amplitude of >25 bpm and has been claimed as a potential marker to identify fetuses at risk of intra-partum and perinatal compromise during labour. A recent international expert consensus has recommended that ZZP persisting for >1 min requires an urgent intervention to avoid poor perinatal outcomes. The aim of the present systematic review was to determine the intra-partum and perinatal outcomes of fetuses with the ZZP compared to the control group not showing the ZZP during labor.</p><p><strong>Methods: </strong>Medline, Embase and Cochrane databases were searched. Inclusion criteria were studies reporting the intra-partum and perinatal outcome of fetuses showing compared to those not showing ZZP during labour. The outcomes observed were operative vaginal delivery, caesarean section, umbilical artery pH<7.1, base excess <-11, mean pH and base excess, admission to neonatal intensive care unit (NICU), abnormal post-natal brain imaging and occurrence of late decelerations later on the CTG trace. Random-effect meta-analyses were used to combine data and results reported as pooled odd ratios (OR) for categorical and pooled mean differences (MD) for continuous variables with their 95 % confidence intervals (CI).</p><p><strong>Results: </strong>Six studies (18,136 fetuses) were included. Fetuses showing ZZP on CTG trace during labor had a higher risk of operative vaginal delivery (OR: 2.22, 95 % CI 1.69-2.91; p<0.001), cesarean delivery (OR: 1.71, 95 % CI 1.37-2.15; p<0.001), umbilical artery pH<7.1 (OR: 2.48, 95 % CI 1.56-3.94; p<0.001), Apgar score <7 at 5 min (OR: 2.13, 955 CI 1.05-4.31; p=0.004) and the occurrence of late decelerations later on during labor (OR: 9.51, 95 % CI 7.80-11.61; p<0.001) compared to those not showing this pattern, while there was no difference in the risk of NICU admission (p=0.209) and respiratory support after birth (p=0.755). Likewise, umbilical artery pH was significantly lower in fetuses showing compared to those not showing ZZP during labour (pooled MD: -0.10, 95 % CI -0.11 to -0.09; p<0.001), while there was no difference in the value of mean base excess between the two groups (p=0.156).</p><p><strong>Conclusions: </strong>Fetuses showing the ZZP on CTG trace during labour are at higher risk of operative vaginal delivery, caesarean section and adverse intrapartum and perinatal outcomes.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"566-574"},"PeriodicalIF":1.4,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145843916","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":"Incidence and predictors of high vitamin D in premature infants with very low birth weight.","authors":"Logan B Greenblatt, Dimitre G Stefanov, Amanda Rahman, Jonathan Blau, Shachee P Pandya","doi":"10.1515/jpm-2025-0099","DOIUrl":"10.1515/jpm-2025-0099","url":null,"abstract":"<p><strong>Objectives: </strong>To examine the incidence of hypervitaminosis D in very low birth weight (VLBW) infants and any associated maternal or neonatal factors.</p><p><strong>Methods: </strong>In this single center retrospective study, we studied serum vitamin D (25[OH]D) levels, maternal and neonatal demographic and clinical factors. We included VLBW infants (≤32 weeks gestational age (GA) and ≤1,500 g birthweight, n = 130) born between 2021 and 2023. VLBWs receive 400 IU/day cholecalciferol once TPN is discontinued. Hypervitaminosis D was defined as 25[OH]D levels >60 ng/mL. We considered 11 variables with plausibility to influence this outcome. Variables with p < 0.20 in univariate logistic regression were entered into a multivariable logistic model to assess associations with the primary outcome. A linear mixed model assessed the association between calcium and 25[OH]D levels, with time as a fixed effect and subject as a random effect.</p><p><strong>Results: </strong>63 VLBWs (48 %) developed hypervitaminosis D. Maternal age > 35 years (OR = 2.2, 95 % CI 0.96-5.06) associated with excess 25[OH]D approached statistical significance (p = 0.06). Our findings indicate that in GA ≥ 28 weeks (OR = 0.77, 95 % CI 0.64-0.92) and maternal hypertension (OR = 0.32, 95 % CI 0.14-0.73) were associated with reduced likelihood of hypervitaminosis D.</p><p><strong>Conclusions: </strong>25[OH]D supplementation of 400 IU/day in VLBWs is associated with a high incidence of hypervitaminosis D. The above findings reveal a significant effect of maternal demographic and clinical factors on newborn metabolic health. Further work is needed to identify causes of hypervitaminosis D. Long term prospective studies are needed to understand the impact of hypervitaminosis D in VLBWs.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"623-629"},"PeriodicalIF":1.4,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145794029","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":"Perceptions of respectful maternity care in Ukraine during a time of war.","authors":"Volodymyr Artyomenko, Katherine Fachon, Marcella Cardoso, Dmytro Zhelezov, Annekathryn Goodman, Mary Greenwald, Zinaida Velieva, Christina Duzyj","doi":"10.1515/jpm-2025-0341","DOIUrl":"10.1515/jpm-2025-0341","url":null,"abstract":"<p><strong>Objectives: </strong>An increasing body of evidence has revealed disrespectful and abusive care in facility-based childbirth as a barrier to maternal and child health. Providers have noted subpar work environments, inadequate staffing, and negative attitudes toward marginalized groups as barriers to respectful care. What has not been studied is the impact of disaster and violence on the delivery of respectful maternity care. The purpose of this study was to evaluate the state of obstetrical care in a maternity hospital in Odessa, Ukraine during a time of military invasion.</p><p><strong>Methods: </strong>We surveyed 202 maternity care providers who have worked at Odessa City Maternity Hospital № 5 for at least one year. Measurements and topics covered in the questionnaires included respectful care practices performed; types of disrespectful behaviors witnessed; the impact of war on the provision of respectful maternity care; post-traumatic stress; and attitudes about consent in obstetric care.</p><p><strong>Results: </strong>Fifty percent of respondents believed disrespect was an issue in the field of obstetrics. A slight majority (55.0 %) reported that the frequency of disrespect and abuse remained the same before and after the invasion, while 32.2 % reported a lower frequency and 9.4 % reported a higher frequency of disrespect. There was little change in reported performance of respectful maternity care before and after the full-scale invasion.</p><p><strong>Conclusions: </strong>Reported effects of war on respectful maternity care were minimal. However, the relatively low knowledge of disrespect and the large spread of frequency of reported respectful behavior indicate an opportunity for training.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"189-200"},"PeriodicalIF":1.4,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145742726","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":"Association between FAR, PAR, APRI and adverse neonatal outcomes in pregnancies complicated by intrahepatic cholestasis.","authors":"Neval Çayönü Kahraman, Betül Tokgöz Çakır, Furkan Akın, Muradiye Yıldırım, Ruken Dayanan, Dilara Duygulu Bulan, Şevki Çelen, Ali Turhan Çağlar","doi":"10.1515/jpm-2025-0323","DOIUrl":"10.1515/jpm-2025-0323","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the predictive value of inflammatory biomarkers fibrinogen/albumin ratio (FAR), platelet/albumin ratio (PAR), and AST/platelet ratio (APRI) in identifying poor neonatal outcomes among pregnancies complicated by IHCP.</p><p><strong>Methods: </strong>This retrospective comparative study included 165 pregnant women diagnosed with IHCP and 155 healthy pregnant women matched for age and gestational age, who delivered at a tertiary care hospital between January 2023 and January 2025. Demographic, clinical, laboratory, and perinatal characteristics were reviewed. FAR, PAR, and APRI were calculated from standard laboratory data. A composite poor neonatal outcome was defined as the presence of at least one of the following: Apgar score <7 at 5 min, respiratory distress syndrome (RDS), meconium aspiration, neonatal sepsis, or admission to the neonatal intensive care unit (NICU). Diagnostic performance was assessed using receiver operating characteristic (ROC) curves and multivariate logistic regression.</p><p><strong>Results: </strong>FAR and APRI values were significantly higher in the IHCP group compared to controls (p<0.05). Among neonates with adverse outcomes, only FAR levels were significantly elevated (p = 0.015). However, its discriminative ability was limited (AUC = 0.607; sensitivity: 58 %, specificity: 63 %) and it was not an independent predictor in multivariate analysis.</p><p><strong>Conclusions: </strong>FAR and APRI levels are elevated in pregnancies with IHCP, yet FAR alone demonstrates limited predictive value for adverse neonatal outcomes. It may serve as a supportive, rather than standalone, marker. Further large-scale prospective studies are warranted.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"617-622"},"PeriodicalIF":1.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145687326","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 adjunctive role of the neutrophil-to-lymphocyte ratio in risk stratification for clinical chorioamnionitis in term pregnancies with meconium-stained amniotic fluid.","authors":"Marwan Odeh, Maya Frank Wolf, Hila Gertes, Lior Lowenstein, Inshirah Sgayer","doi":"10.1515/jpm-2025-0252","DOIUrl":"10.1515/jpm-2025-0252","url":null,"abstract":"<p><strong>Objectives: </strong>To assess the predictive value of the neutrophil-to-lymphocyte ratio (NLR) for clinical chorioamnionitis in term pregnancies complicated by meconium-stained amniotic fluid (MSAF).</p><p><strong>Methods: </strong>This retrospective case-control study included women with singleton pregnancies at ≥37 weeks with documented MSAF during labor. The NLR was calculated from maternal blood samples collected at admission. Clinical and hematological parameters were compared between women with and without clinical chorioamnionitis. A multivariable logistic regression model was constructed to identify independent predictors, and a predictive risk score was developed.</p><p><strong>Results: </strong>Among 2,014 women with MSAF, 106 (5.3 %) developed clinical chorioamnionitis. Among those with compared to without clinical chorioamnionitis, the mean NLR was higher (5.0 ± 3.8 vs. 4.3 ± 2.3, p = 0.008) and an NLR >3 was more common (85.8 % vs. 76.9 %, p = 0.042). C-reactive protein and white blood cell levels were comparable between the groups. In multivariable analysis, nulliparity (adjusted odds ratio (aOR) 3.087, 95 % confidence interval (CI):1.808-5.273), longer rupture of membranes (aOR 1.092, 95 % CI:1.092-1.189), and NLR (aOR 1.095, 95 % CI:1.025-1.171) were independently associated with clinical chorioamnionitis. A predictive model incorporating nulliparity, rupture of membranes >10 h, and NLR >3 demonstrated an area under the curve of 0.742 (95 % CI: 0.693-0.791, p < 0.001) for predicting clinical chorioamnionitis.</p><p><strong>Conclusions: </strong>NLR at admission was independently associated with clinical chorioamnionitis in term pregnancies complicated by MSAF. Incorporating NLR into a predictive model enhanced risk stratification, suggesting that NLR could be a practical biomarker for early identification of increased risk of infection among women with MSAF.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"500-506"},"PeriodicalIF":1.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145687417","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 fetus as a patient in the 21st century: science, ethics, technology and global responsibility.","authors":"Ivica Zalud, Milan Stanojevic, Amos Grunebaum, Frank A Chervenak","doi":"10.1515/jpm-2025-0688","DOIUrl":"10.1515/jpm-2025-0688","url":null,"abstract":"","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"1-3"},"PeriodicalIF":1.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145695823","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":"Fetal brain in fetal growth restriction: alterations in cortical morphometry and volume.","authors":"Hale Ankara Aktas, Hakan Golbasi, Burak Bayraktar, Ilayda Gercik Arzik, Zubeyde Emiralioglu Cakir, Atalay Ekin","doi":"10.1515/jpm-2025-0536","DOIUrl":"10.1515/jpm-2025-0536","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate fetal brain midline structures, cortical structures, and brain volume using sonography in cases of fetal growth restriction (FGR) and to compare these findings with those of fetuses demonstrating normal growth.</p><p><strong>Methods: </strong>This prospective case-control study included 80 FGR cases and 80 fetuses with normal growth curves between 24 and 37 weeks of gestation. Multiplanar neurosonography was performed in all cases according to the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guidelines. The corpus callosum (CC; length, thickness, and fastigium distance), cavum septi pellucidi (CSP), sylvian fissure (SF), parieto-occipital fissure (POF), calcarine fissure (CF), insula, olfactory sulcus (OS), and brain volume were evaluated. Measurements were made using the ultrasound device's electronic calipers, and brain volume was calculated using the Virtual Organ Computer-aided Analysis (VOCAL) application.</p><p><strong>Results: </strong>In the FGR group, CSP width, CC length, and thickness were significantly increased, while CCFL and POF depths were decreased (p < 0.05, for all). Mean brain volumes were similar in the FGR and control groups (349.30 ± 61.77 vs. 368.42 ± 68.51, p = 0.066). In FGR group, middle cerebral artery peak systolic velocity (MCA PSV) was positively correlated with most brain structures but negatively correlated with CC thickness. There was no relationship between cerebroplacental ratio (CPR) and brain volume or fetal brain structures.</p><p><strong>Conclusions: </strong>Our findings showed that FGR affects the fetal brain through neuroanatomical structures such as the CC, CSP, CCFL, and POF during the prenatal period. In our cohort, fetal brain volume did not differ significantly in FGR. Furthermore, there was no association between CPR and fetal brain structures.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"582-592"},"PeriodicalIF":1.4,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701187","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":"Analysis of changes in serum VEGF, β-hCG, and sFlt-1 levels in women with placenta accreta spectrum and the impact on prognosis.","authors":"Pan Shang, DongMei Pang, YinLing Zhao","doi":"10.1515/jpm-2025-0291","DOIUrl":"10.1515/jpm-2025-0291","url":null,"abstract":"<p><strong>Objectives: </strong>To explore serum vascular endothelial growth factor (VEGF), β-subunit human chorionic gonadotropin (β-hCG), and soluble Fms-like tyrosine kinasereceptor 1 (sFlt-1) levels in pregnant women with placenta accreta spectrum (PAS) and their prognostic implications.</p><p><strong>Methods: </strong>Serum levels were measured in PAS patients and non-PAS controls. Depending on the depth of placental penetration into the uterine wall, PAS patients were further classified into placenta accreta, placenta increta and placenta percreta subgroups. Diagnostic efficacy of individual biomarkers and combined indices was evaluated using receiver operating characteristic curves. Correlations between biomarker levels, disease severity, and prognosis were analyzed.</p><p><strong>Results: </strong>Serum levels of VEGF and β-hCG showed significant positive correlations with the extent of PAS invasion, whereas sFlt-1 levels were inversely associated with disease progression. Combined pregnancy complications, elevated serum VEGF levels and decreased serum sFlt-1 levels were risk factors for poor prognosis in patients with PAS. The AUC values of the indicators combined to predict the diagnosis and prognosis of patients with PAS were greater than serum VEGF, hCG, and sFlt-1 levels alone.</p><p><strong>Conclusions: </strong>Serum levels of VEGF, β-hCG, and sFlt-1 demonstrate the potential to differentiate between women with and without PAS, and further exhibit a correlation with the depth of myometrial invasion in PAS cases. The combined use of these serum markers enhances both the sensitivity and specificity of prenatal diagnosis and prognostic assessment for PAS compared to individual markers, thereby offering valuable guidance for clinical diagnosis and management of PAS.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"493-499"},"PeriodicalIF":1.4,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654459","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 utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.","authors":"Kanaka Durga Devi Yadam Reddy, Suresh Kumaraswamy, Palanichamy Palanikumar, Tajamul Hussain, Shaik Mohammad Naushad","doi":"10.1515/jpm-2025-0240","DOIUrl":"10.1515/jpm-2025-0240","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the genetic causes of miscarriage by analyzing products of conception (POC).</p><p><strong>Methods: </strong>Chromosomal microarray (CMA) using the Affymetrix Cytoscan HD array was performed in 172 POC specimens from women experiencing spontaneous miscarriage before 20 weeks of gestation to detect aneuploidies, copy number variants (CNVs), and loss of heterozygosity (LOH). Whole exome sequencing (WES) with Roche KAPA HyperExome V2 probes was used for cases where CMA results were normal.</p><p><strong>Results: </strong>Common clinical indications included recurrent pregnancy loss, first-time miscarriage, absence of cardiac activity, intrauterine death, and fetal growth restriction (FGR), making up 72.55 % of cases. CMA identified chromosomal abnormalities in 38.37 % of samples, with numerical anomalies in 16.86 % and structural anomalies in 21.51 %. Turner syndrome (5.8 %) and various trisomies (5.8 %) were frequent numerical anomalies. Mosaicism and LOH were observed in 11.04 and 2.91 % of cases. WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield. K-means clustering grouped 17 of these genes into three pathways: chondrocyte differentiation, fibrin clot formation, and Ehlers-Danlos syndrome.</p><p><strong>Conclusions: </strong>Combining CMA and WES provides a diagnostic yield of 48.83 %, offering a powerful approach to uncover genetic causes of pregnancy loss and guide clinical care.</p>","PeriodicalId":16704,"journal":{"name":"Journal of Perinatal Medicine","volume":" ","pages":"507-514"},"PeriodicalIF":1.4,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145661361","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}