BACKGROUND:Accurate assessment of fetal head descent during labor is fundamental to the safe performance of operative vaginal delivery. However, conventional evaluation by digital vaginal examination is subjective and prone to interobserver variability. Although intrapartum transperineal ultrasound has improved objectivity by quantifying the presenting part of the fetal head, these assessments may not reliably reflect the vertical level of the largest fetal head diameter, particularly in the presence of fetal head molding and caput succedaneum. The suprapubic descent angle was recently introduced as a transabdominal ultrasonographic parameter designed to address this limitation by indexing the position of the largest head diameter. Nevertheless, evidence regarding its external validity and reproducibility in independent clinical settings remains limited. OBJECTIVE:To externally validate the suprapubic descent angle as an ultrasonographic marker of fetal head descent in operative vaginal delivery and to assess its correlation with digital examination and established intrapartum ultrasound parameters. STUDY DESIGN:This prospective cohort study was conducted at a tertiary perinatal center between January and December 2025. Women with singleton, term, cephalic pregnancies undergoing operative vaginal delivery were consecutively enrolled. Intrapartum ultrasound was performed immediately before delivery. The suprapubic descent angle was measured offline by examiners blinded to labor progress and delivery outcomes. Correlations between the suprapubic descent angle and other measures of fetal head descent were analyzed using appropriate correlation coefficients. Measurement reproducibility was assessed using intraobserver and interobserver intraclass correlation coefficients and Bland-Altman analysis. Sensitivity analyses were performed in cases with occiput anterior fetal head position to evaluate the potential influence of rotation on measurement agreement. RESULTS:A total of 191 women were included, yielding 375 ultrasound images for analysis. The suprapubic descent angle demonstrated strong inverse correlations with digital station (r=-0.85; 95% confidence interval, 0.83-0.88), angle of progression (r=0.83; 95% confidence interval, 0.80-0.86), and transperineal ultrasound station (r=-0.85; 95% confidence interval, 0.82-0.88). Measurement reproducibility was excellent, with an intraobserver intraclass correlation coefficient of 0.985 (95% confidence interval, 0.930-0.977; P <.001) and an interobserver intraclass correlation coefficient of 0.960 (95% confidence interval, 0.930-0.977; P <.001), accompanied by narrow limits of agreement. In sensitivity analyses restricted to occiput anterior cases, agreement further improved, indicating reduced measurement variability when fetal head malrotation was absent. CONCLUSION:The suprapubic descent angle is a feasible, highly reproducible, and externally valid ultrasonographic measure of fetal head descent in operative vaginal delivery. By more closely reflecting the vertical level of the largest fetal head diameter, the suprapubic descent angle provides clinically complementary information to digital examination and transperineal ultrasound assessment. Incorporating this parameter into intrapartum evaluation may enhance risk stratification and support more informed decision-making during operative vaginal delivery by helping to identify potential overestimation of fetal head descent using conventional assessment methods. Outcome-focused studies are warranted to determine suprapubic descent angle-based thresholds that predict delivery success and procedure-related complications.
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Prenatal genetic testing in Japan has undergone major changes over the past 2 decades. Maternal serum screening (MSS), amniocentesis (AC), and chorionic villus sampling (CVS) have been the principal tools used to identify fetal chromosomal abnormalities. Recently, non-invasive prenatal testing (NIPT) has reshaped clinical decision-making. However, updated national-level data capturing trends in conventional prenatal testing methods are limited. We aimed to assess the current landscape of prenatal genetic testing in Japan. To update the national data, we compiled test volumes from five major high-volume laboratories that analysed prenatal genetic tests and conducted a supplemental nationwide questionnaire-based survey on ultrasound (US)-only screening between 2020 and 2023. Over this period, MSS declined from 34,887 cases in 2018 to 25,553 in 2023, AC from 16,454 in 2014 to 5620 in 2023, and CVS from 2149 in 2015 to 1167 in 2023, whereas US-only screening increased slightly to >10,000 cases annually. The chromosomal abnormality detection rate among AC cases increased from 8
ABSTRACT Ovarian yolk sac tumor is a rare malignant germ cell tumor that typically occurs in young women. In postmenopausal women, yolk sac tumors are extremely rare and have a poor prognosis. These tumors may arise from different biological mechanisms, as germ cells are absent in postmenopausal ovaries. We report a 59‐year‐old woman with pure ovarian yolk sac tumor, without epithelial carcinoma components. Immunohistochemistry showed positive SALL4, AFP, and Glypican‐3 and negative PAX8, confirming germ cell tumor differentiation. The patient developed liver metastasis and peritoneal dissemination resistant to platinum‐based chemotherapy. Comprehensive genomic profiling revealed somatic mutations in ARID1A, CTNNB1 , NFE2L2 , and PIK3CA . These genomic alterations are commonly observed in ovarian clear cell and endometrioid carcinomas, suggesting a somatic, possibly epithelial, origin for postmenopausal yolk sac tumors. These findings suggest that postmenopausal yolk sac tumors may be epithelial carcinomas with yolk sac tumor‐like features, showing genetic and therapeutic similarities to clear cell carcinoma.
OBJECTIVE:To evaluate the effects of aortic occlusion (AO) on severe postpartum hemorrhage (PPH)-a leading cause of preventable maternal mortality-using a nationwide maternal death registry in Japan. METHODS:A nationwide retrospective observational study of hemorrhage-related maternal deaths was conducted in Japan between 2010 and 2024. Patients were classified into an AO group (resuscitative endovascular balloon occlusion of the aorta [REBOA] and/or resuscitative thoracotomy with aortic cross-clamping [RT-ACC]) and a non-AO group. The primary outcome was the achievement of definitive hemostatic procedures. Secondary outcomes included 24-h survival. RESULTS:Among 109 hemorrhage-related maternal deaths, 19 patients underwent AO (13 REBOA, six RT-ACC). Patients in the AO group were more frequently transferred to tertiary care centers than those in the non-AO group (84.2% (16/19) vs 43.3% (39/90), P < 0.01). Achievement of definitive hemostasis was significantly higher in the AO group (78.9% (15/19) vs 42.2% (38/90), P < 0.01), as were 24-h survival (42.1% (8/19) vs 15.6% (14/90), P = 0.02). Approximately 90% of AO procedures (17/19) were performed at tertiary centers, and only 16% (3/19) were initiated before cardiopulmonary arrest. CONCLUSION:AO, including REBOA and RT-ACC, was associated with higher rates of hemostasis and short-term survival among cases of maternal death due to severe PPH. Earlier application of AO before cardiopulmonary arrest may be critical to improving outcomes.
Background While many university hospital adolescent clinics in Japan provide psychiatric care for mental health issues, there are almost no university hospitals offering gynecological care specifically for adolescent females. We report on the current status of the adolescent outpatient clinic within the university hospital's Department of Obstetrics and Gynecology for patients with primary amenorrhea (PA) requiring combined treatment involving pharmacotherapy, surgical therapy, genetic counseling, and patient education. PA in Japan is estimated to affect approximately 0.5% of the population. Ovarian PA, characterized by elevated GnRH levels, accounts for half of all cases, while central PA, which does not involve GnRH elevation, constitutes 20%. Other causes of PA requiring surgical intervention include vulvar anomalies and disorders of sex development (DSD) with a 46,XY karyotype. Methods Following approval of our hospital's Ethics Committee (Approval No. 3220), we retrospectively reviewed medical records of 111 patients with PA among 511 individuals who had visited our outpatient department five or more times between 2012 and 2024. We examined their diagnoses, timing of outpatient visits, and whether they underwent surgery and genetic testing. Results Diagnoses in PA patients included 43 with DSD, 13 with complications from other departments, 12 with weight loss-related PA including anorexia nervosa, and 43 with other causes such as central or ovarian PA without organic disease. Among DSD cases, 18 had Turner syndrome, 15 had 46,XY karyotype with androgen insensitivity syndrome, Frasier syndrome, or suspected Swyer syndrome, and 10 had internal/external genital abnormalities. Six patients underwent gonadectomy at our hospital. Genetic testing confirmed the diagnosis in 15 patients. Management of each condition involves collaboration with Pediatrics, Urology, Psychiatry, and other departments, with support from certified genetic counselors. Conclusion PA patients, though rare, are frequently seen in adolescent outpatient clinics at university hospitals, often requiring surgery or genetic testing. Many patients, such as those with eating disorders or transferred from other departments, require long-term psychological follow-up. Accurate diagnosis and the establishment of appropriate trust-based relationships with patients and families are essential for providing lifelong women's healthcare. Maintaining a management system capable of delivering this care is necessary.
The clinical application of artificial intelligence (AI) can provide technical support for examiners and improve obstetric workflow efficiency. In this study, we developed AI models that automatically extract the four-chamber view (4CV) from fetal cardiac ultrasound videos and compute the cardiothoracic area ratio, cardiac axis, and cardiac position for prenatal screening of congenital heart disease. Fetal cardiac ultrasound videos from 301 patients in the second trimester were analyzed. The 4CV was automatically extracted using YOLOv7, followed by image segmentation with UNet 3+ and SegFormer, after which automated parameter calculation and estimation were performed. A clinical comparison study involving 22 obstetricians was conducted to evaluate the screening performance of the AI models. The models demonstrated stable performance in both normal and abnormal cases, including examinations acquired using different ultrasound systems. Furthermore, the AI models achieved screening performance comparable to that of expert obstetricians. These findings indicate that the proposed AI framework enables reliable 4CV extraction and accurate biometric parameter computation. This fully automated approach has the potential to reduce missed abnormalities and improve the consistency of fetal cardiac ultrasound screening.
Total anomalous pulmonary venous connection (TAPVC) is one of the most severe congenital heart defects; however, prenatal diagnosis remains suboptimal. A normal fetal heart has a junction between the pulmonary venous (PV) and left atrium (LA). In contrast, no junctions are observed in patients with TAPVC. In the present study, we attempted to visualize and detect fetal PV-LA connections using artificial intelligence (AI) trained on the fetal cardiac ultrasound videos of 100 normal cases and six TAPVC cases. The PV-LA aggregate area was segmented using the following three-dimensional (3D) segmentation models: SegResNet, Swin UNETR, MedNeXt, and SegFormer3D. The Dice coefficient and 95% Hausdorff distance were used to evaluate segmentation performance. The mean values of the shortest PV-LA distance (PLD) and major axis angle (PLA) in each video were calculated. These methods demonstrated sufficient performance in visualizing and detecting the PV-LA connection. In terms of TAPVC screening performance, MedNeXt-PLD and SegResNet-PLA achieved mean area under the receiver operating characteristic curve values of 0.844 and 0.840, respectively. Overall, this study shows that our approach can support unskilled examiners in capturing the PV-LA connection and has the potential to improve the prenatal detection rate of TAPVC.
Transperineal ultrasonography (TUS) is increasingly recognized for evaluating labor progression, but its contribution to delivery outcomes, particularly in forceps delivery, remains uncertain. This prospective cohort study investigated whether TUS-assisted examination improves maternal and neonatal outcomes in forceps deliveries. We included term singleton pregnancies undergoing trial of forceps at a tertiary perinatal center in Japan between 2019 and 2022. Participants were divided into two groups based on whether TUS was performed before delivery. The maternal composite outcome comprised cesarean section after failed forceps, ≥ 3 tractions required, third- or fourth-degree perineal tear, or postpartum hemorrhage > 1500 mL. The neonatal composite outcome included umbilical artery pH < 7.0, base excess < - 12, 5-minute Apgar score < 7, trauma, or NICU admission. Propensity-score matching (1:1) was applied to balance covariates. Among 403 eligible patients, 216 matched cases were analyzed. Both maternal (relative risk [RR] 0.53, 95% CI 0.29-0.97; number needed to treat [NNT] 8.9; p = 0.03) and neonatal (RR 0.47, 95% CI 0.22-0.99; NNT 10.7; p = 0.04) composite outcomes were significantly lower in the TUS group, with fewer cases requiring ≥ 3 tractions (p = 0.01). TUS-assisted examination prior to forceps delivery may improve both maternal and neonatal safety.
Fetal cardiac ultrasound screening is vital for the prenatal diagnosis of congenital heart disease (CHD). However, understanding complex cardiovascular structures and continuity from two-dimensional (2D) ultrasound images remains challenging. Therefore, this study developed and evaluated an artificial intelligence (AI)-based three-dimensional (3D) visualization approach that reconstructs fetal cardiovascular structures from 2D ultrasound sweep video. To this end, information from the adjacent frames was used. Instead of interpreting each ultrasound frame independently, this method incorporates neighboring frames, enabling the continuous visualization of the right- and left-sided functional circulatory pathways. Our method achieved a mean Dice coefficient of 0.785 on an independent test dataset, demonstrating that the adjacent frame information can provide stable 3D segmentation. Diffusion-based anatomical plausibility analysis trained exclusively on normal anatomies showed exploratory discrimination between normal fetuses and fetuses with CHD (AUC, 0.861; 95% CI, 0.695–0.980). In a clinical comparison study involving 12 obstetricians, the introduction of this AI-driven 3D cardiovascular visualization slightly improved the screening accuracy from 0.779 to 0.808 and significantly improved the confidence-weighted accuracy score (p = 0.002). Our approach can potentially support examiners and facilitate fetal cardiac ultrasound screenings.
Comprehensive prenatal genetic testing expands the range of conditions that can be diagnosed before birth. However, its appropriate use requires a high genetic literacy level. This study aimed to identify challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan through a survey of obstetricians and gynecologists. A total of 663 obstetricians and gynecologists (response rate: 34.6%) affiliated with facilities providing intrapartum care nationwide participated. The mean duration of clinical experience was 26.9 years, and 85% had experience performing prenatal genetic testing. Regarding diagnostic testing using chromosomal microarray analysis or whole-exome sequencing, 5% responded that it was "already implemented," whereas 47% responded that they were "unsure whether implementation should be considered." For non-invasive prenatal testing targeting conditions beyond trisomies 21, 18, and 13, 63% were "positive about implementation." Clinical geneticists or obstetricians and gynecologists certified in perinatal genetics were significantly more likely to cite restricting testing at non-certified institutions as a reason for supporting implementation (p < 0.01). Few obstetricians and gynecologists certified in perinatal genetics cited "to avoid unnecessary invasive diagnostic testing" (p = 0.02) and "to improve the child's prognosis" (p < 0.01). Therefore, obstetricians and gynecologists certified in perinatal genetics were more likely to cite social issues, such as the presence of non-certified facilities, whereas fewer cited avoiding invasive diagnostic testing or improving child outcomes. As comprehensive prenatal testing is implemented, further investigation into the factors underlying these perceptions, together with ongoing education and awareness initiatives regarding the benefits and values of prenatal genetic testing, including NIPT, will be important.
Non-invasive prenatal testing (NIPT) is a screening method that detects fetal chromosomal trisomies from cell-free DNA in maternal blood. Because NIPT uses whole-genome sequencing with next-generation sequencing for data processing, it can also detect maternal genomic information. Although most copy number variations (CNVs) are benign, some have been reported to be associated with pathological phenotypes and are attracting increasing attention. However, most CNV studies have been conducted in Western populations, and large-scale studies in Japanese cohorts remain scarce. This study represents the first multicenter, large-scale cohort investigation of maternal CNVs in Japanese pregnant women. We analyzed 46,082 participants to establish a reliable threshold for maternal CNV detection and to evaluate their clinical significance. Maternal CNVs were validated using array comparative genomic hybridization, and receiver operating characteristic curve analysis identified 0.8 Mbp as the minimum threshold achieving 100
Total anomalous pulmonary venous connection (TAPVC) is a severe congenital heart disease, yet its prenatal detection rate remains suboptimal. To support prenatal ultrasound screening of TAPVC, the post-left atrium space (PLAS) index and the left-atrial posterior-space-to-diagonal (LAPSD) ratio measured in the four-chamber view (4CV) have been proposed as useful biometric parameters. In this study, we developed a novel approach that integrates automated 4CV extraction (AE) from fetal cardiac ultrasound videos with automated measurement of these indices. The heart, crux, and descending aorta were segmented using DeepLabv3+, UNet3+, and SegFormer. The screening performance of the AE-based methods was comparable to that of manual 4CV extraction, as demonstrated by similar mean areas under the receiver operating characteristic curve (AUCs). In a clinical comparison study, the mean AUC values for residents, fellows, experts, AE-DeepLabv3+, AE-UNet3+, and AE-SegFormer were 0.784, 0.801, 0.996, 0.903, 0.928, and 0.940, respectively, for the PLAS index and 0.797, 0.801, 0.996, 0.919, 0.916, and 0.940, respectively, for the LAPSD ratio. Although experts demonstrated the best overall performance, the fully automated methods consistently outperformed both the residents and fellows. This approach may support less experienced examiners, improve screening accuracy, streamline clinical workflows, and ultimately enhance the prenatal detection of TAPVC.
AIM:To examine the association between third-stage duration and total blood loss in women with retained placenta. Secondary analyses were performed to explore clinical factors associated with postpartum hemorrhage (PPH). METHODS:This retrospective cohort study included women with singleton vaginal deliveries at ≥ 22 gestational weeks between 2019 and 2024 complicated by retained placenta. The association between third-stage duration and total blood loss was assessed using Spearman's correlation. Multivariable logistic regression analysis was used to explore factors associated with PPH. Blood loss and third-stage duration were descriptively compared between cases with and without manual removal of the placenta (MROP). RESULTS:Among 4543 vaginal deliveries, 47 (1.0%) cases of retained placenta were identified, of which 27 (57.4%) developed PPH. Total blood loss positively correlated with third-stage duration (Spearman's ρ = 0.488, p < 0.001). In exploratory multivariable analysis, assisted reproductive technology (ART) pregnancy (adjusted odds ratio [aOR], 18.50; 95% confidence interval [CI], 3.28-104.0) and third-stage duration (per 30 min: aOR, 1.86; 95% CI, 1.10-3.16) were associated with PPH, although the estimates were imprecise. MROP was performed in 32 patients (68.1%) at physician discretion. Third-stage duration did not differ between groups, but greater blood loss was observed in cases in which MROP was performed. CONCLUSION:Prolonged third-stage duration was associated with greater blood loss in women with retained placenta and may reflect the overall clinical course rather than an isolated causal factor. ART pregnancy was also associated with PPH.
Non-invasive prenatal testing (NIPT) enables the screening of fetal chromosomal abnormalities by analyzing cell-free DNA (cfDNA) in maternal blood. Recent technological advancements have expanded its applications to the detection of copy number variations (CNVs). However, the clinical utility of CNV detection remains unclear. We aimed to investigate the association between fetal CNVs detected by genome-wide NIPT and perinatal outcomes in a large cohort in Japan. This retrospective cohort study included 46,082 patients who underwent NIPT at certified facilities in Japan between January 2015 and September 2021. Genome-wide NIPT was performed using massively parallel sequencing to detect fetal CNVs exceeding 7 Mb. Despite their small size, well-characterized microdeletions, such as 22q11.2 were included. From 46,082 patients with NIPT results, 30,373 cases with known birth outcomes were extracted, and cases with fetal CNV were included in the analysis. Fetal CNVs were detected in 66 patients (0.2%). Adverse outcomes, including miscarriage, growth restriction, and structural abnormalities, were observed in 14 of the 66 cases (21.2%). Pathogenic CNVs were frequently detected even in the 52 cases (78.8%) with favorable outcomes. Genome-wide NIPT may assist in the diagnosis of cases with structural abnormalities when combined with confirmatory testing. Our findings demonstrate that pathogenic CNVs are also detected in a substantial number of structurally normal fetuses with favorable short-term outcomes. This discordance presents a significant challenge for prenatal counseling. The clinical significance of the findings should be clarified through confirmatory testing of CNV cases and the accumulation of data from long-term follow-up studies.
AIMS:We compared changes in the perceptions of non-invasive prenatal testing (NIPT) before and after the introduction of a government-involved NIPT certification system in July 2022. METHODS:Web-based surveys of pregnant women who underwent NIPT were conducted in 2020 (pre-certification) and 2023 (post-certification) using a pregnancy-related mobile application. RESULTS:We obtained 1198 and 1227 responses from the 2020 and 2023 surveys, respectively. Compared with 2020 respondents, 2023 respondents who chose non-certified facilities emphasized word-of-mouth reputation, online appointment availability, expanded testing beyond the three major trisomies, low cost, and improved accessibility. The two survey years showed no significant differences in overall trends in facility selection and the tendency to choose certified facilities to prioritize recommendations from their primary care physicians and the availability of pre-test genetic counseling. Additionally, when NIPT results were non-negative, respondents tested at non-certified facilities in 2023 were more likely to report concerns such as "insufficient explanation increased my anxiety" and "I regretted my choice of testing facility." More respondents in 2023 preferred to undergo NIPT at facilities that provide routine prenatal checkups and believed each pregnant woman should make testing decisions. CONCLUSIONS:After introducing the NIPT certification system, those choosing to undergo testing at certified facilities emphasized the importance of comprehensive support, whereas those opting for non-certified facilities prioritized convenience. However, the latter group became increasingly aware of the lack of post-test support when faced with non-negative results.