Ultrasound in Obstetrics & Gynecology最新文献

Objective: To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G-banded karyotype or chromosomal microarray (CMA).

Methods: This systematic review and meta-analysis was conducted using a predetermined protocol and registered with PROSPERO (ID: CRD42024593349). We included observational cohort studies reporting on the incremental yield of PES in fetuses with an apparently normal phenotype and a previously normal G-banded karyotype/CMA. The risk of bias of the included studies was assessed using the Newcastle-Ottawa Scale. The pooled proportion of events was calculated using generalized linear mixed models, using the metaprop function in R version 2.15.1.

Results: Four studies (1916 fetuses) were included in this systematic review and meta-analysis, of which 32 cases had a pathogenic or likely pathogenic variant. The pooled incremental yield of PES in fetuses with an apparently normal phenotype was 1.6% (95% CI, 1.0-2.6%); the majority of variants were de novo within genes associated with autosomal dominant inherited conditions (pooled incremental yield, 0.9% (95% CI, 0.5-1.7%)). Based on the expected severity of the associated disease, the pooled incremental yield was 0.5% (95% CI, 0.1-1.5%) for severe disease and 0.5% (95% CI, 0.2-1.5%) for moderate disease. There were insufficient data to conduct the predefined secondary analyses according to normality of phenotype at birth, variants of uncertain significance and expected age of disease onset.

Conclusion: Pooling data from four studies, we found that 1.6% of phenotypically normal fetuses with a normal G-banded karyotype or CMA may have a pathogenic or likely pathogenic variant identified on PES, most of which occur de novo. The likelihood of a variant being associated with severe disease in such fetuses is 0.5%. However, more research is needed regarding the development of a universal classification of disease severity and the utilization of this evidence in clinical practice. © 2025 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Objectives: To evaluate the impact of different endometrial preparation protocols on pregnancy outcomes in patients with unexplained recurrent implantation failure (uRIF) undergoing frozen embryo transfer (FET).

Methods: This retrospective cohort study reviewed 110 372 FET cycles from three fertility centers in China between January 2014 and July 2021. Among them, 4346 cycles were performed in patients with uRIF, including 557 who had the natural cycle (NC) protocol, 1310 who had the stimulated cycle (SC) protocol and 2479 who had the artificial cycle (AC) protocol. The primary outcome measure was live birth rate. For singleton live births, the main obstetric outcomes (hypertensive disorders of pregnancy, gestational diabetes mellitus, abnormal placentation and prelabor rupture of membranes) and neonatal outcomes (Cesarean delivery, preterm birth, post-term birth, low birth weight, macrosomia, small-for-gestational age, large-for-gestational age and major birth defect) were collected through standardized questionnaire interviews. Potential confounders were controlled by 1:1:1 propensity score matching and multivariable logistic regression analysis using prematched data.

Results: There were 397 cycles in each group after matching and all baseline characteristics were balanced with no significant differences between the groups. The live birth rate was comparable among the NC, SC and AC groups (29.5% vs 35.3% vs 33.0%, respectively; P = 0.21), as were the rates of clinical pregnancy, embryo implantation and miscarriage. The three groups differed significantly in Cesarean delivery rate (65.6% vs 71.1% vs 81.1%, respectively; P = 0.04), with post-hoc statistical significance identified between the NC and AC groups (P = 0.01). No significant associations were observed between endometrial preparation protocols and other pregnancy, obstetric and neonatal outcomes. The results after matching were in good agreement with the multivariable-adjusted outcomes before matching.

Conclusions: Our findings do not prioritize one specific endometrial preparation protocol over another for improving pregnancy rates among patients with uRIF; however, the increased risk of Cesarean delivery in the AC group necessitates careful consideration to optimize delivery outcomes. Nonetheless, given the overall high rate of Cesarean delivery in all three groups, further clarification is required on whether medical indication or personal preference influenced the decision on the mode of delivery. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Objectives: Placental insufficiency contributes to many obstetric pathologies, but there is no bedside clinical tool to evaluate placental perfusion. We have developed a method to acquire multiple three-dimensional (3D) power Doppler (PD) ultrasound (US) volumes of placental vasculature, with infrared camera tracking of the precise spatial location of the transducer providing global coordinates. These volumes are reconstructed automatically ('stitched') into a model of the entire placenta. The purpose of this study was to evaluate the accuracy of automated reconstruction in an US phantom and to assess the feasibility of this technique in second-to-third-trimester human placentae.

Methods: A custom-designed acrylic phantom was constructed with dimensions mimicking a third-trimester placenta, containing 12 rectangular cuboid towers of various heights submersed in tissue-mimicking solution. Multiple overlapping 3D-US volumes of this phantom were acquired using three different insonation angles and infrared camera tracking. Data were transformed into a 3D cartesian volume and stitched automatically into six 3D-US volumes, each covering the entire phantom, for each of the three different insonation angles. Reconstruction accuracy was evaluated by calculating local distance error (assessment of towers in overlapping US volumes to determine accuracy of stitching) and global distance error (subtraction of true measurements in phantom model from corresponding measurements in stitched 3D-US volumes). A single-center, cross-sectional feasibility study was then conducted in women with an uncomplicated second-to-third-trimester singleton pregnancy, with data obtained using standardized ultrasound settings. Multiple 3D PD-US and grayscale volumes of the placentae were acquired with infrared camera-tracked coordinates. Volumes were stitched to create a model of placental vasculature, and these were assessed for quality and repeatability of volume measurement.

Results: Six entire phantom datasets were reconstructed at each of three insonation angles, giving a total of 18 extended phanom datasets. A median of nine 3D-US volumes required to reconstruct the entire phantom. Twelve towers per volume were assessed on three separate occasions, generating 648 datapoints. Of these datapoints, 67.1% were perfectly aligned. The mean local distance error was 2.92 (range, 0-25.51) mm. Measurements between towers of 120 distances in each stitched 3D-US volume (2160 distances in total) differed by an average of 1.51 (range, -4.78 to 4.23) mm from the true measurements in the phantom model. In the feasibility study, 17 participants were scanned, and 49 3D-US volume datasets acquired, with 92% reconstruction success per placental volume set and at least one complete volume being obtained per participant (100% participant achievability). The median volume acquisition and reconstruction time was 10 min. Reconstructe

Objectives: Open spina bifida (OSB) is associated with lower limb and bladder dysfunction. We documented bladder function and lower limb motor function on ultrasound throughout gestation in a cohort of fetuses with OSB. The association of the prenatal findings with postnatal dysfunction was investigated, along with the impact of talipes on pre- and postnatal motor function.

Methods: A prospective cross-sectional cohort study was performed including all fetuses with isolated OSB, which were assessed at the University Hospitals Leuven between July 2015 and December 2019. The anatomical level of the lesion was determined on three-dimensional ultrasound. Bladder volumes were also measured on three-dimensional ultrasound and filling-voiding changes (flow) were calculated and compared to gestational-age-matched control fetuses imaged for this study (matched 1:1). The fetal motor function level was determined on ultrasound based on joint movement of the hip, knee, ankle and toes. Postnatal bladder function was assessed by questionnaire and cystography at 1 year of age. The predictive ability of prenatal anatomical and functional levels for postnatal lower limb function was assessed. Lastly, the presence of talipes was assessed as a prognostic factor.

Results: We included 122 examinations from 69 OSB fetuses. Bladder volumes were smaller in fetuses with OSB compared to controls and the difference increased with advancing gestational age. There was no association of bladder volume and urinary flow with the level of the lesion, nor was there a measurable effect of prenatal surgery on fetal bladder volume. Postnatal urinary reflux was more likely in children with a smaller bladder volume and lower urinary flow rate at 24 weeks' gestation. Lower limb motor dysfunction was more frequent at higher gestational ages. In-utero motor function was a better predictor of postnatal motor function than the anatomical level of the lesion in fetuses that underwent surgery. Fetuses with talipes performed four levels worse postnatally compared to fetuses without talipes, despite a similar anatomical level of the lesion.

Conclusion: In OSB, prior to fetal surgery, bladder volume and urinary flow are already abnormal from early in gestation, independent of the level of the lesion, and may be predictive of postnatal urinary reflux. Motor function impairment can be demonstrated prenatally and is a better predictor of postnatal motor dysfunction than the prenatal anatomical level of the lesion. The presence of talipes adversely impacts postnatal motor function. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Objectives: To assess the ability, as well as factors affecting the ability, of ultrasound examiners with different levels of ultrasound experience to detect correctly infiltration of ovarian cancer in predefined anatomical locations, and to evaluate the inter-rater agreement regarding the presence or absence of cancer infiltration, using preacquired ultrasound videoclips obtained in a selected patient sample with a high prevalence of cancer spread.

Methods: This study forms part of the Imaging Study in Advanced ovArian Cancer multicenter observational study (NCT03808792). Ultrasound videoclips showing assessment of infiltration of ovarian cancer were obtained by the principal investigator (an ultrasound expert, who did not participate in rating) at 19 predefined anatomical sites in the abdomen and pelvis, including five sites that, if infiltrated, would indicate tumor non-resectability. For each site, there were 10 videoclips showing cancer infiltration and 10 showing no cancer infiltration. The reference standard was either findings at surgery with histological confirmation or response to chemotherapy. For statistical analysis, the 19 sites were grouped into four anatomical regions: pelvis, middle abdomen, upper abdomen and lymph nodes. The videoclips were assessed by raters comprising both senior gynecologists (mainly self-trained expert ultrasound examiners who perform preoperative ultrasound assessment of ovarian cancer spread almost daily) and gynecologists who had undergone a minimum of 6 months' supervised training in the preoperative ultrasound assessment of ovarian cancer spread in a gynecological oncology center. The raters were classified as highly experienced or less experienced based on annual individual caseload and the number of years that they had been performing ultrasound evaluation of ovarian cancer spread. Raters were aware that for each site there would be 10 videoclips with and 10 without cancer infiltration. Each rater independently classified every videoclip as showing or not showing cancer infiltration and rated the image quality (on a scale from 0 to 10) and their diagnostic confidence (on a scale from 0 to 10). A generalized linear mixed model with random effects was used to estimate which factors (including level of experience, image quality, diagnostic confidence and anatomical region) affected the likelihood of a correct classification of cancer infiltration. We assessed the observed percentage of videoclips classified correctly, the expected percentage of videoclips classified correctly based on the generalized linear mixed model and inter-rater agreement (reliability) in classifying anatomical sites as being infiltrated by cancer.

Results: Twenty-five raters participated in the study, of whom 13 were highly experienced and 12 were less experienced. The observed percentage of correct classification of cancer infiltration ranged from 70% to 100% depen

Objective: To assess the diagnostic performance of middle cerebral artery (MCA) velocity time integral (VTI) in predicting fetal hemoglobin (Hb) Bart's disease.

Methods: This was a secondary analysis of data collected prospectively from pregnant women at risk for fetal Hb Bart's disease assessed at 17-22 weeks' gestation, receiving care at the Maternal-Fetal Medicine Unit, Chiang Mai Hospital, Thailand, between January 2008 and December 2023. Each fetus underwent prenatal measurement of MCA peak systolic velocity (PSV) and MCA-VTI. Final diagnosis of Hb Bart's disease was confirmed by Hb typing of cord blood, obtained by cordocentesis. MCA-PSV and MCA-VTI were evaluated both as absolute values and multiples of median (MoM) normalized for gestational age. Diagnostic performance of MCA-PSV and MCA-VTI for predicting fetal Hb Bart's disease was evaluated and compared using area under the receiver-operating-characteristics curve (AUC), sensitivity, specificity and positive and negative predictive values.

Results: A total of 485 fetuses at risk for Hb Bart's disease (109 affected, 376 unaffected) met the inclusion criteria. Absolute MCA-VTI values were significantly higher in affected compared with unaffected fetuses (7.9 ± 1.8 vs 5.4 ± 1.3; P < 0.001) as were MoM values (1.5 ± 0.3 vs 1.0 ± 0.2; P < 0.001). The diagnostic performance of MCA-VTI was superior to that of MCA-PSV for detecting fetal anemia due to Hb Bart's disease, with AUCs of 0.877 (95% CI, 0.836-0.917) and 0.898 (95% CI, 0.857-0.938) for absolute MCA-VTI values (in cm) and MCA-VTI MoM, respectively, compared with 0.842 (95% CI, 0.795-0.889) and 0.854 (95% CI, 0.809-0.899) for absolute MCA-PSV values (in cm/s) and MCA-PSV MoM, respectively (P < 0.001).

Conclusion: MCA-VTI is more accurate compared with MCA-PSV for predicting fetal Hb Bart's disease, which indirectly reflects anemia. This suggests that MCA-VTI could serve as an alternative or adjunct to MCA-PSV for detecting fetal anemia, particularly in cases of Hb Bart's disease and potentially for other etiologies. © 2025 International Society of Ultrasound in Obstetrics and Gynecology.

Objectives: Intrauterine transfusions (IUTs) are the cornerstone in treatment for hemolytic disease of the fetus and newborn (HDFN). It has been suggested that a non-vascular intraperitoneal blood transfusion used in conjunction with an intravascular IUT can slow the decrease in fetal hemoglobin (Hb) levels, potentially extending the interval between transfusions. Our aim was to evaluate the rate of decline in Hb levels and the interval between transfusions using different IUT techniques, including intrahepatic transfusions with and without intraperitoneal transfusion, and transplacental transfusion at the site of the placental cord insertion.

Methods: We conducted a retrospective cohort study at the Leiden University Medical Center, the national referral center for HDFN, between January 2006 and December 2022. All cases that underwent intrahepatic (with and without intraperitoneal transfusion) and placental cord insertion IUTs during the study period were included. The primary outcome was the decline in Hb levels per week, measured by comparing the Hb level immediately after the IUT with the Hb level before the subsequent IUT or birth. The primary outcome was analyzed using generalized estimating equations with and without adjustment for confounders.

Results: We included 309 fetuses that received a total of 791 IUTs, of which 151 were intrahepatic-only transfusions, 273 were intrahepatic + intraperitoneal transfusions and 367 were placental cord insertion transfusions. We found an adjusted mean difference in the decline in Hb levels of 0.48 (95% CI, 0.29-0.66) g/dL/week between the group that underwent intrahepatic-only transfusion and the group that underwent intrahepatic + intraperitoneal transfusion (P < 0.001). The adjusted mean difference between the intrahepatic-only IUT group and the placental cord insertion IUT group was 0.49 (95% CI, 0.05-0.94) g/dL/week (P = 0.030). The median interval to the next IUT for the total cohort was 21 (interquartile range (IQR), 18-28) days. Similarly, in the intrahepatic-only and placental cord insertion IUT groups, the median interval to the next IUT was 21 (IQR, 19-28) and 21 (IQR, 15-26) days, respectively. In the intrahepatic + intraperitoneal transfusion group, the median interval was slightly higher (26 (IQR, 21-28) days).

Conclusion: Decline in Hb levels was slower when using intrahepatic + intraperitoneal transfusion compared with other IUT techniques and seemed to prolong the interval between IUT procedures. The potential clinical advantages of the intrahepatic + intraperitoneal transfusion technique need to be weighed against the increased complexity and extended duration of the procedure on an individual basis. © 2025 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Objective: To assess the association of fetal body measurements and maternal pelvic measurements obtained using magnetic resonance imaging (MRI) with the incidence of shoulder dystocia.

Methods: This was a retrospective, single-center, case-control study conducted between January 2015 and December 2022. Patients whose delivery was complicated by shoulder dystocia and who underwent fetal MRI in the third trimester were included in the case group. Patients without shoulder dystocia who were delivered normally and who also underwent fetal MRI in the third trimester were included in the control group. Cases of multiple pregnancy, planned or emergency Cesarean delivery, fetal malformation or those with incomplete MRI examination were excluded. The case group was matched with the control group in a 1:2 ratio according to maternal age, maternal body mass index, gestational diabetes mellitus, diabetes mellitus Type 1 or 2, gestational age at MRI examination, gestational age at birth and birth weight. Shoulder dystocia was defined as per the Royal College of Obstetricians and Gynecologists and significant shoulder dystocia was defined as shoulder dystocia that was not resolved by the McRoberts' maneuver or suprapubic pressure. The following fetal and maternal measurements were quantified on MRI in both groups by two readers (one experienced and one inexperienced physician) who were blinded to the obstetric outcomes: fetal body volume (FBV), shoulder skin-to-skin distance, interhumeral distance, biparietal diameter (BPD), head circumference, obstetric conjugate (OC), sagittal outlet diameter (SOD), coccygeal pelvic outlet (CPO) and maximal transverse diameter (MTD). A stepwise backward logistic regression that included all measurements was performed. The inter-rater reliability of the measurements was estimated using interclass correlation coefficient (ICC). Statistical significance was set at P < 0.05.

Results: Among the 1843 patients included in the study, there were 63 (3.4%) cases of shoulder dystocia. After matching, the case group comprised 36 patients and the control group comprised 72 patients. Patients who had shoulder dystocia, compared to those without, had higher FBV (P = 0.023), higher shoulder skin-to-skin distance (P = 0.003), lower OC (P = 0.021), lower SOD (P = 0.004), lower CPO (P = 0.045) and lower MTD (P = 0.001) in comparison with those without. The logistic regression model showed that FBV, shoulder skin-to-skin distance, BPD, SOD and MTD were independent predictors of shoulder dystocia. The measurements of interest had moderate to excellent reliability when repeated by an inexperienced reader. In those who had non-significant shoulder dystocia, only shoulder skin-to-skin distance was significantly greater and OC was significantly lower in comparison with the control group, whereas in those who had significant shoulder dystocia, only SOD and MTD were significantly lower

Objective: Current guidelines in fetal echocardiography recommend serial evaluation every 4 weeks for single-ventricle lesions. However, there are limited data on the type and frequency of in-utero cardiac changes seen on fetal echocardiograms (FEs) based on the type of single-ventricle lesion. We aimed to evaluate the utility of serial FEs in detecting cardiac changes during gestation and how these changes impact postnatal management.

Methods: We performed a retrospective review of all FEs for fetuses diagnosed with a single-ventricle lesion at the Children's Healthcare of Atlanta, between January 2012 and January 2023. All patients included in the study had two or more FEs and were evaluated for in-utero cardiac changes based on eight cardiac categories: atrioventricular (AV) valve regurgitation; systemic ventricular dysfunction; ductus arteriosus flow; atrial-level restriction; umbilical artery Doppler pattern; umbilical vein Doppler pattern; evidence of hydrops; and evidence of arrhythmias. All in-utero cardiac changes were classified into three categories: improving, worsening or critical. Any changes noted on serial FEs that altered the fetal cardiac diagnosis were also recorded. Fisher's exact test was used to determine whether the proportion of fetuses with in-utero cardiac changes differed significantly between different segmental findings and single-ventricle lesion subtype.

Results: A total of 721 FEs were performed for 248 patients over the 11-year study period. The majority of fetuses had hypoplastic left heart syndrome (HLHS) (63.7%) and most changes were seen in the third trimester (median gestational age, 29.3 (range, 17.4-38.4) weeks). In-utero cardiac changes observed on serial FEs were reported in 38 (15.3%) fetuses, with a total of 42 changes noted throughout the study period. However, only eight (3.2%) fetuses had a critical change that impacted perinatal management. All eight fetuses had HLHS, of which the majority developed hydrops (4/8) or atrial-level restriction (3/8). In addition, there were 34 non-critical changes seen in 30 (12.1%) fetuses, largely in the form of intermittent premature atrial contractions, AV valve regurgitation or ventricular dysfunction. There were 12 (2.5%) follow-up FEs that resulted in a change to the fetal cardiac diagnosis, confirmed by postnatal echocardiography.

Conclusion: In fetuses with single-ventricle lesions, there was a low rate of in-utero cardiac changes that led to alterations in perinatal management. However, fetuses with HLHS were most likely to develop critical changes affecting delivery-room management, often in the form of atrial-level restriction and/or evolving hydrops. It is important to consider these factors when considering the timing of visits for families who face a prenatal diagnosis of a single-ventricle lesion. © 2025 International Society of Ultrasound in Obstetrics and Gynecolo