Subeen Hong, Oyoung Kim, Byung Soo Kang, Sangeun Won, Hyun Sun Ko, Ji Hea Byun, Jeong Ha Wie, Ji Young Kwon, Kyung Eun Lee, Jae Eun Shin, Yeon Hee Kim, Jaehong Lee, Kwang Yeon Choi, In Yang Park
{"title":"Deep Learning-Based Segmentation of Fetal Anatomical Structures in the First Trimester.","authors":"Subeen Hong, Oyoung Kim, Byung Soo Kang, Sangeun Won, Hyun Sun Ko, Ji Hea Byun, Jeong Ha Wie, Ji Young Kwon, Kyung Eun Lee, Jae Eun Shin, Yeon Hee Kim, Jaehong Lee, Kwang Yeon Choi, In Yang Park","doi":"10.1002/pd.70156","DOIUrl":"https://doi.org/10.1002/pd.70156","url":null,"abstract":"<p><strong>Objectives: </strong>To develop and evaluate an artificial intelligence (AI) system that automatically identifies and classifies the fetal structures in the first trimester.</p><p><strong>Method: </strong>Over 20,000 ultrasound images from first-trimester fetuses were prospectively collected from four university hospitals in the Republic of Korea. Images were annotated according to segmentation-specific structures by anatomical regions, including the head, neck, thorax, abdomen, extremities, and spine, based on standardized guidelines. The YOLACT model, which enabels real-time instance segmentation, was used to detect and segment fetal structures. The dataset was randomly divided into a training set (95%) and a test set (5%). Model performance was evaluated using detection accuracy, mean average precision (mAP), and frames per second (FPS).</p><p><strong>Results: </strong>The YOLACT model achieved an overall anatomical detection accuracy of 98.4%. High segmentation performance (F1-score > 0.950) was observed for well-defined structures such as the cranium, heart, and abdominal circumference. Structures like the nasal bone and extremities had relatively lower recall. The model's mAP at IoU 0.5 was 0.622, and real-time processing was confirmed with a speed of 25.4 FPS.</p><p><strong>Conclusions: </strong>The YOLACT-based AI model demonstrated accurate and efficient segmentation of fetal structures in the first trimester, supporting its potential for real-time clinical application in early anomaly screening.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147842046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hong-Yu Luo, Dan-Ping Huang, Qiu-Xia Yu, Dong-Zhi Li
{"title":"Prenatal Diagnosis of Ververi-Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation.","authors":"Hong-Yu Luo, Dan-Ping Huang, Qiu-Xia Yu, Dong-Zhi Li","doi":"10.1002/pd.70166","DOIUrl":"https://doi.org/10.1002/pd.70166","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147842029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa.","authors":"Megan Duvenhage, Katryn Fourie, Monica Araujo","doi":"10.1002/pd.70165","DOIUrl":"https://doi.org/10.1002/pd.70165","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low- and middle-income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain suboptimal.</p><p><strong>Objective: </strong>To assess the utilisation of genetic counselling services and perceptions of genetic counselling among prenatal healthcare providers in Gauteng Province, South Africa.</p><p><strong>Method: </strong>An electronic survey was distributed to prenatal healthcare providers working in public and private healthcare sectors in Gauteng. The survey assessed access to genetic counselling services, referral practices, knowledge of referral indications, understanding of the genetic counsellor's role, and perceived barriers to referral. Fifty-four respondents were included.</p><p><strong>Results: </strong>Seventy-four percent of participants reported being able to refer to patients for genetic counselling, but only 57% had utilised the service. No participant correctly identified all appropriate referral indications, and only 24% understood the scope of practice of genetic counsellors. Only 6% felt confident in their knowledge of genetic counselling.</p><p><strong>Conclusion: </strong>Although genetic counselling services are available and utilised in Gauteng, they are not accessed to their full potential. Improved education and clearer referral guidance are required to optimise prenatal genetic care in this setting.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, Raashda Sulaiman, Hana Alharbi, Mohamed H Al-Hamed, Saleh Albanyan, David H Ledbetter, Yara Alqahtani, Wafa Aljanfawi, Mohammed Tohary, Lamees AlHabib, Hajar Alakeel, Randa AlShammari, Meshari M Alwazae, Ibrahim Alqasir, Wesam Kurdi, Maha Tulbah, Rawan Almass, Fatimah Alturki, Gawaher Almutairi, Faiqa Imtiaz, Mohammed Al-Owain
{"title":"Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.","authors":"Abdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, Raashda Sulaiman, Hana Alharbi, Mohamed H Al-Hamed, Saleh Albanyan, David H Ledbetter, Yara Alqahtani, Wafa Aljanfawi, Mohammed Tohary, Lamees AlHabib, Hajar Alakeel, Randa AlShammari, Meshari M Alwazae, Ibrahim Alqasir, Wesam Kurdi, Maha Tulbah, Rawan Almass, Fatimah Alturki, Gawaher Almutairi, Faiqa Imtiaz, Mohammed Al-Owain","doi":"10.1002/pd.70163","DOIUrl":"https://doi.org/10.1002/pd.70163","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to evaluate the outcomes of a new PND initiative designed to optimize healthcare delivery in a highly consanguineous population.</p><p><strong>Methods: </strong>A descriptive study was conducted at a major tertiary referral center for genetic diseases in Saudi Arabia with a large scope objective to improve the existing prenatal diagnosis (PND) process. Consequently, a new prenatal workflow featuring a structured checklist, a dedicated prenatal board, and enhanced genetic counseling has been implemented since September 2023. The study included all prenatal cases with a documented autosomal recessive (AR) disease.</p><p><strong>Results: </strong>The program processed 1128 cases, with 952 cleared by the prenatal checklist. In total, the board has discussed 160 variants of unknown significance (VUS), of which 122 (76%) were upgraded to likely pathogenic/pathogenic. Remarkably, the prenatal checklist enhanced patient safety and reduced serious harm incidents, while the prenatal board facilitated precision medicine by leveraging collective expertise in variant interpretation.</p><p><strong>Conclusion: </strong>This initiative significantly improved the healthcare, safety, and accessibility of PND services. The prenatal board and checklist streamlined decision-making, minimized errors, and enhanced patient outcomes. The model provides a cost-effective approach to preventing genetic diseases in highly consanguineous populations and serves as a replicable framework for similar settings worldwide.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Qiu-Xia Yu, Xiang-Yi Jing, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li
{"title":"Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations.","authors":"Qiu-Xia Yu, Xiang-Yi Jing, Zhi-Qing Xiao, Si-Yun Li, Dong-Zhi Li","doi":"10.1002/pd.70164","DOIUrl":"https://doi.org/10.1002/pd.70164","url":null,"abstract":"<p><strong>Objective: </strong>To present the indications for prenatal diagnosis (PND) of neurofibromatosis type 1 (NF1) in a Chinese referral medical center.</p><p><strong>Method: </strong>This study encompasses a 7-year experience in PND of NF1. The cohort consisted of women undergoing PND due to parental carrier status, as well as those whose fetuses were diagnosed with copy number variations (CNVs) involving NF1 gene or NF1 variants based on indications unrelated to parental carrier status.</p><p><strong>Results: </strong>A total of 30 cases underwent PND related to NF1. Among these, 17 cases involved a parental carrier, with pathogenic NF1 variants identified in ten fetuses while absent in seven others. Additionally, 13 cases were diagnosed incidentally during gestation due to reasons not linked to parental carrier status; this included seven instances where the indications were advanced maternal age or increased nuchal translucency and six cases presenting abnormal nonspecific fetal ultrasound findings. Within this cohort, we identified a total of 21 distinct NF1 variants across 24 unrelated cases, with c.4600C > T; p.(Arg1534Ter) being the only recurrent variant observed.</p><p><strong>Conclusions: </strong>NF1 does not exhibit specific prenatal features; sporadic fetal cases were diagnosed incidentally via the use of advanced genetic testing methods.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nadezhda Dzhelepova, Caroline B Jones, Sophia Khan
{"title":"Foetal Persistent Left Superior Vena Cava-Not Always a Benign Finding?","authors":"Nadezhda Dzhelepova, Caroline B Jones, Sophia Khan","doi":"10.1002/pd.70146","DOIUrl":"https://doi.org/10.1002/pd.70146","url":null,"abstract":"<p><strong>Objective: </strong>To determine the proportion of patients with a persistent left superior vena cava (PLSVC) and structurally normal heart who have associated extra cardiac anomalies and/or genetic variations and to review their clinical outcomes.</p><p><strong>Methods: </strong>A retrospective cohort study of foetuses with a prenatal diagnosis of PLSVC and structurally normal heart seen at Saint Mary's Hospital Foetal Medicine Unit Manchester, UK between January 2017 and December 2024. Outcome of the pregnancy and for the infants up to one year follow-up data was collected from Electronic Patient Records (EPR).</p><p><strong>Results: </strong>Eighty cases of foetal persistent PLSVC were detected during the study period. Six were excluded from the study because of a postnatal diagnosis of congenital heart disease. 19 out of the 74 foetuses (25%) had associated extra-cardiac structural anomalies, with 5 of these diagnosed postnatally. Seven of the 74 patients (9.5%) had genetic abnormalities.</p><p><strong>Conclusions: </strong>This study shows that PLSVC detected in foetus with an otherwise structurally normal heart is associated with an increased risk of extracardiac and genetic abnormalities. Therefore, we would recommend a detailed anatomy scan by an FMU specialist in all cases. There is a notable incidence of genetic and chromosomal abnormalities, which suggests that genetic testing is warranted in this patient population.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fetal Fraction and Uterine Leiomyoma Volume: New Insights From Interpretable Modeling.","authors":"İlker Uçar, Görkem Sarıyer, Esra Yaprak Uçar, Rumeysa Nur Çağıran, Emine Demirel","doi":"10.1002/pd.70162","DOIUrl":"https://doi.org/10.1002/pd.70162","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to develop a predictive model to estimate the likelihood of achieving a sufficient fetal fraction (FF) for non-invasive prenatal testing (NIPT) based on maternal characteristics such as age, body mass index (BMI), gestational age, gravida, parity, and uterine leiomyoma volume, if present.</p><p><strong>Method: </strong>This retrospective study include singleton pregnancies with normal NIPT results and complete data from a tertiary hospital. Maternal and clinical variables are analyzed. Machine learning models (Decision Tree, Random Forest, XGBoost) are trained to classify FF as sufficient (≥ 4%) or insufficient. The best-performing model (XGBoost) is interpreted using SHAP values. Additionally, the impact of uterine leiomyoma volume on FF is demonstrated through scenario-based analyses derived from the model.</p><p><strong>Results: </strong>XGBoost achieves the highest prediction accuracy (0.89). SHAP analysis shows that age, BMI, and gestational age are most influential, followed by uterine leiomyoma volume. Scenario-based simulations on 24 patients with both uterine leiomyoma and insufficient FF demonstrate that reducing uterine leiomyoma volume often led to a predicted improvement in FF.</p><p><strong>Conclusion: </strong>Uterine leiomyoma volume is identified as a significant factor influencing FF levels in NIPT. This predictive modeling has the potential to support clinical decision-making in cases where low FF poses challenges to effective patient management.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emma Van den Eede, Karen Chen, Carolyn Altman, Tomohiro Arai, Wasinee Tianthong, Walter Coudyzer, Greetje Vande Velde, Michael Aertsen, Timo Krings, Peter Kan, Caitlin Sutton, Samuel McCluggage, William E Whitehead, Magdalena Sanz Cortes, Larry H Hollier, Luc De Catte, Thierry A G M Huisman, Michael A Belfort, Jan Deprest, Luc Joyeux
{"title":"Novel Fetal Embolization Technique via Transcardiac Transarterial Ultrasound- and Fluoroscopy-Guided Endovascular Surgery for Vein of Galen Malformation: Preclinical Study in the Fetal Lamb.","authors":"Emma Van den Eede, Karen Chen, Carolyn Altman, Tomohiro Arai, Wasinee Tianthong, Walter Coudyzer, Greetje Vande Velde, Michael Aertsen, Timo Krings, Peter Kan, Caitlin Sutton, Samuel McCluggage, William E Whitehead, Magdalena Sanz Cortes, Larry H Hollier, Luc De Catte, Thierry A G M Huisman, Michael A Belfort, Jan Deprest, Luc Joyeux","doi":"10.1002/pd.70157","DOIUrl":"https://doi.org/10.1002/pd.70157","url":null,"abstract":"<p><strong>Objective: </strong>Vein of Galen malformation is associated with significant perinatal morbidity and mortality. Postnatal management typically relies on transarterial embolization of the feeding arteries. To date, fetal therapeutic efforts focused on the transvenous approach. This study aimed to preclinically evaluate the feasibility and safety of a prenatal transarterial approach: Fetal Embolization via Transcardiac Transarterial Ultrasound- and fluoroscopy-guided Surgery (FETTUS).</p><p><strong>Method: </strong>MR-angiography was initially performed in neonatal lambs to identify a target artery for embolization. FETTUS was then standardized in fetal lambs at varying gestational ages. Under maternal-fetal anesthesia, laparotomy-assisted fetal left ventricular access was obtained under ultrasound guidance, a microcatheter was advanced to the target artery under fluoroscopy, and embolization was performed with N-butyl cyanoacrylate. The primary outcome was fetal survival ≥ 30 minutes after confirmed embolization.</p><p><strong>Results: </strong>The internal maxillary artery was chosen as the target artery for embolization. Three fetal lambs underwent successful embolization (100%) at 130 days of gestation (term = 145 days; 2.8 ± 0.6 kg), two out of six (33%) at 100 days of gestation (0.9 ± 0.3 kg) and finally 6 out of 7 (86%) at 120 days of gestation (2.3 ± 0.4 kg). No non-target embolization, ischemia, or hemorrhage was observed on postmortem examination within the limitations of the observations obtained at 30 minutes after the procedure.</p><p><strong>Conclusions: </strong>FETTUS is feasible and safe in fetal lambs at a gestational age equivalent to 30 weeks in humans.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alice D'Amico, Francesco D'Antonio, Lorenza Della Valle, Ilenia Mappa, Maria Elena Flacco, Lamberto Manzoli, Giuseppe Rizzo, Federico Prefumo
{"title":"Cardiac Function in Fetal Growth Restriction: A Systematic Review and Meta-Analysis.","authors":"Alice D'Amico, Francesco D'Antonio, Lorenza Della Valle, Ilenia Mappa, Maria Elena Flacco, Lamberto Manzoli, Giuseppe Rizzo, Federico Prefumo","doi":"10.1002/pd.70145","DOIUrl":"https://doi.org/10.1002/pd.70145","url":null,"abstract":"<p><strong>Objectives: </strong>To compare cardiac function in fetuses with and without fetal growth restriction (FGR).</p><p><strong>Methods: </strong>Medline and Embase databases were searched. Inclusion criteria were pregnancies complicated compared to those non-complicated by FGR, defined according to the Delphi criteria. The following cardiovascular parameters were assessed. Markers of cardiac geometry and morphology, including the left and right sphericity index (SI). Markers primarily affecting the systolic function, including right (TAPSE) and left (MAPSE) cardiac output (CO), atrioventricular plane displacement, and peak systolic velocity of the aorta and pulmonary arteries. Markers primarily affecting the diastolic function, including the mitral and tricuspid E/A ratio. Markers of global cardiac function, including left and right isovolumetric contraction time (ICT), isovolumetric relaxation time (IRT) ejection time (ET), and myocardial performance index (MPI). Random-effect meta-analyses were used to analyze the data.</p><p><strong>Results: </strong>Fifteen studies were included. Fetuses affected by FGR had a smaller right SI (MD -0.23, 95% CI 0.44 to -0.01; p: 0.04) and left (MD: -0.20, 95% CI -0.33 to -0.05) compared to those not affected. There was no difference in left (p = 0.179) and right (p = 0.068) CO between fetuses affected and those not affected by FGR. Fetuses with FGR had shorter MAPSE (MD: -0.91 mm, 95% CI: -1.25 to -0.57; p < 0.001) and TAPSE (MD: -1.09 mm, 95% CI: -1.23 to -0.96; p < 0.001), while there was no difference in mitral (p = 0.832) and tricuspid (p = 0.504) E/A ratio. Left MPI was higher (MD: 0.09, 95% CI 0.04 to 0.14; p < 0.001) in fetuses with FGR compared with controls.</p><p><strong>Conclusion: </strong>FGR is associated with significant changes in fetal cardiac geometry and function.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}