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OBJECTIVE: To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis. METHODS: Single-center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing). RESULTS: Seven women were included. Results were relevant for prenatal counseling in five cases, with a definitive diagnosis in three: one periventricular nodular heterotopia, one mild tubulinopathy, and one dynein-associated neurodevelopmental disorder. Median gestational age at referral was 28.3 weeks (range, 20.7-34.9). Neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was conducted for all cases. Fetal magnetic resonance was performed at a median gestational age of 34.4 weeks (range, 29.3-35.7), confirming ultrasound diagnosis in all cases, and providing substantial additional information in two (2/7, 28.6%). Parental magnetic resonance findings aligned with fetal findings in 5/7 cases (71.4%). CONCLUSION: DUO or TRIO magnetic resonance, involving both progenitors and the fetus, could play a significant role in prenatal diagnosis of selected brain anomalies with uncertain prognosis.

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OBJECTIVES: To evaluate the accuracy of ultrasound estimates of fetal weight made by residents. METHODS: A cross-sectional study was conducted on consecutive pregnancies attended in an obstetric ward. All participants provided their consent to participate. Inclusion criteria were singleton pregnancies with ultrasound evaluation and delivery within 14 days. Congenital abnormalities and stillbirths were excluded. Ultrasound scans were performed by two residents, one observer per subject, following standardized methodology and supervised by senior staff. Fetal weight was calculated using the four-parameter Hadlock 1985 formula. Birth weight was measured using a standard clinical scale. Bland-Altman and mixed-effects analyses were performed. RESULTS: In a 6-month period, 95 gestations were recruited at 30-41 weeks, and birth weights ranged from 1200 to 4080 g. The bias between methods was -28 g (CI95%, -74 to 18) with 95% limits of agreement of ±440 g. The 95% deviation between methods was of ±16%. Parity had the most significant effect on the bias between methods; operator and maternal weight had no significant effect. CONCLUSIONS: Supervised measurement of fetal weight by residents demonstrated high accuracy. Parity bias may be associated with visceral fat deposition independent of maternal weight gain. A methodology for medical evaluation is presented.

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Background: Cesarean scar pregnancy (CSP) is a high-risk complication characterized by the implantation of a pregnancy within a cesarean scar resulting from a previous delivery. Currently, clinical indicators guiding the expectant management of patients with CSP are lacking. We thus aimed to evaluate pregnancy and neonatal outcomes among women who underwent expectant CSP management and to investigate whether sonographic signs correlated with obstetric outcomes. Methods: We retrospective reviewed the electronic medical records and first-trimester transvaginal ultrasonography reports of consecutive patients diagnosed with CSP in the first trimester at the West China Second University Hospital from January 1, 2010 to December 31, 2022. Pregnancy outcomes (emergency surgery, blood loss, and rescue) and neonatal outcomes (gestational age at delivery, neonatal weight, and Apgar scores) were examined. A binary logistic regression analysis was conducted to identify independent risk factors that could predict severe complications. Results: The final analysis included 54 patients. The mean age of the pregnant women was 34±4 years. Among the 54 patients, 14 (25.9%) did not progress to 20 weeks of gestation. Pregnancy continued beyond 20 weeks in 40 patients, with 37 live births (92.5%) and 3 stillbirths (7.5%). Moreover, 7 (17.5%) and 33 (82.5%) patients delivered before and after 34 weeks, respectively. Placenta accreta spectrum (PAS) and placenta previa were confirmed in 29 (72.5%) and 17 (42.5%) patients, respectively. Hysterectomy, emergency cesarean section, and rescue surgery were performed in 5 (12.5%), 15 (37.5%), and 22 (55.5%) patients, respectively. Patients with a visible niche were significantly more likely to have preterm labor, PAS, placenta previa, low-birth-weight newborns, higher blood loss, intraoperative rescue, blood transfusion, and first-trimester vaginal bleeding than were those without one (all P values <0.05). Conclusions: Our study showed that expectant management of CSP to achieve live birth might be feasible. Patients with a visible niche exhibited worse outcomes, with a higher incidence of severe delivery complications.

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BACKGROUND: Prenatal ultrasounds form an important part of routine maternity care in Australia and indeed internationally. The COVID-19 pandemic necessitated rapid changes in society and healthcare to curb transmission, with evidence demonstrating detrimental impacts on childbearing women associated with these restrictions. However, experiences with pandemic restrictions for prenatal ultrasounds in relation to distress, patient expectations, and satisfaction are largely unknown. This study aimed to explore the experiences of pregnant women attending prenatal ultrasound during the pandemic in Australia. METHODS: A cross-sectional online survey of people in Australia who had undergone at least one prenatal ultrasound during the period of maternity care restrictions was performed. The survey included validated tools for assessing post-traumatic stress, satisfaction, and expectations with maternity care. RESULTS: A total of 1280 responses were obtained. Almost 37% of respondents returned a PCL-C score consistent with probable post-traumatic stress disorder. Unexpected ultrasound findings or a high PCL-C score were more likely to have higher expectations and lower levels of satisfaction with their maternity care experience. Having an ultrasound for pregnancy loss, fetal abnormality, and/or a prior post-traumatic stress disorder diagnosis were the strongest factors correlating with a high PCL-C score. DISCUSSION: The prevalence of post-traumatic stress symptoms in the study population is concerning and elucidates the distress experienced in association with prenatal ultrasounds during pandemic restrictions in Australia. Maternity services should acknowledge the high levels of service consumers with post-trauma symptoms and consider trauma-responsive maternity care adaptations in response to adverse perinatal outcomes for those afflicted with post-trauma and distress-related symptoms.

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Background: Prognosis of twin-to-twin transfusion syndrome (TTTS) varies depending on the Quintero stage and fetal cardiac function. The purpose of our study was to evaluate fetal cardiac function before and after different intrauterine treatments of TTTS through myocardial performance index (MPI). Methods: In this retrospective study, data were collected from August 2016 to December 2022. Totals of 68 cases of TTTS and 68 monochorionic diamniotic (MCDA) twins without TTTS were included. MPI was collected and compared between TTTS and MCDA twins without TTTS before intrauterine treatments. TTTS cases were divided into 3 groups according to different intrauterine treatments: (I) amnioreduction (34 cases), (II) fetoscopic laser photocoagulation (FLPC; 20 cases), and (III) selective reduction (14 cases). The MPI of the left ventricle (LV) and right ventricle (RV) in each surviving fetus were measured 48 hours before and after treatments by pulse Doppler ultrasound. One-way analysis of variance (ANOVA) was employed to assess whether there were statistical differences in LV-MPI and RV-MPI among the donors, recipients, and the control group. Paired t-test analysis was used to compare whether there were differences in MPI before and after intrauterine treatments. Results: The MPIs of the LV and RV in the recipients were significantly higher than those in the MCDA twins without TTTS (P<0.05). After the amnioreduction treatment of TTTS, no significant differences were observed in the MPI of either the LV or the RV before and after treatment. At 48 hours after FLPC treatment, the value of the LV-MPI in donors was 0.25±0.08, and the value of the RV-MPI in recipients was 0.58±0.17. Both of them were significantly lower than those before the treatment (P<0.05). In the selective reduction group, the value of the RV-MPI in surviving recipients significantly decreased compared to that before treatment (P<0.05). Conclusions: MPI is an effective indicator to evaluate fetal cardiac function of TTTS and assess the efficacy of intrauterine treatments of TTTS.

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OBJECTIVE: Prediction of fetal growth restriction (FGR) and small of gestational age (SGA) infants by using various ultrasound cardiac parameters in a logistic regression model. METHODS: In this retrospective study we obtained standardized ultrasound images of 357 fetuses between the 20th and 39th week of gestation, 99 of these fetuses were between the 3rd and 10th growth percentile, 61 smaller than 3rd percentile and 197- appropriate for gestational age over the 10th percentile (control group). Several cardiac parameters were studied. The cardiothoracic ratio and sphericity of the ventricles was calculated. A binary logistic regression model was developed for prediction of growth restriction using the cardiac and biometric parameters. RESULTS: There were noticeable differences between the control and study group in the sphericity of the right ventricle (p = 0.000), left and right longitudinal ventricle length (pright = 0.000, pleft = 0.000), left ventricle transverse length (p = 0.000), heart diameter (p = 0.002), heart circumference (p = 0.000), heart area (p = 0.000), and thoracic diameter limited by the ribs (p = 0.002). There was no difference of the cardiothoracic ratio between groups. The logistic regression model achieved a prediction rate of 79.4 % with a sensitivity of 74.5 % and specificity of 83.2 %. CONCLUSION: The heart of growth restricted infants is characterized by a more globular right ventricle, shorter ventricle length and smaller thorax diameter. These parameters could improve prediction of FGR and SGA.

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BACKGROUND: A significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the first-trimester anomaly scan include early detection of fetal anomalies, providing parents with more time for reproductive decision-making. OBJECTIVE: To investigate the uptake, test performance, and time to a final prenatal diagnosis after referral. STUDY DESIGN: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks of gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance, and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks of gestation. RESULTS: The first-trimester anomaly scan uptake was 74.9% (129,704/173,129). In 1.0% (1313/129,704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intrauterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios), and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks of gestation) were found, with 1 case having an unknown outcome. 0.9% (n=1164) of all cases with a normal first-trimester anomaly scan were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98,055/98,830); positive predictive value 40.9% (537/1312); negative predictive value 98.8% (98,055/99,219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98,830), and false negative rate 68.4% (1164/1701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median gestational age 16+3), for genetic anomalies 17 days (8.5-27.5 days; median gestational age 15+6 weeks), and for first-trimester major congenital anomalies 9 days (5-22 days; median gestational age 14+6 weeks). CONCLUSION: The performance of a newly introduced nationwide first-trimester anomaly scan in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks of gestation for referred cases. To evaluate the balance between benefits and potential harm of the first-trimester anomaly scan within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals.

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OBJECTIVE: To compare ultrasound-assessed fetal head circumference (HC), abdominal circumference (AC), HC/AC ratio, and estimated fetal weight (EFW) in prediction of large-for-gestational-age (LGA) at birth in pregnancies affected by type 1 (T1DM) and type 2 (T2DM) diabetes. METHODS: This retrospective cohort study included all women with T1DM and T2DM giving birth to singletons between 2010 and 2019 at Aalborg University Hospital, Denmark. Ultrasound scans were performed at 16, 20, 28 and 34 weeks of pregnancy. LGA was defined as birth weight deviation of 15% or greater from the expected for gestational age (≥90th centile). Prediction of LGA was assessed by logistic regression adjusted for maternal characteristics and glycated hemoglobin (HbA1c) and area under the receiver operating characteristics curve (AUC). RESULTS: Among 180 T1DM pregnancies, 118 (66%) had an LGA neonate at birth. At 28 weeks of pregnancy, they were predicted with AUCHC/AC = 0.67, AUCAC = 0.85, and AUCEFW = 0.86. The multivariate analysis did not improve the predictive performance of the HC/AC ratio or AC. Among 87 T2DM pregnancies, 36 (41%) had an LGA neonate at birth. At 28 weeks, they were predicted with AUCHC/AC = 0.73, AUCAC = 0.83, and AUCEFW = 0.87. In T2DM, the multivariate analysis significantly improved the predictive performance for both HC/AC ratio and AC from 20 weeks of pregnancy. CONCLUSION: In T1DM and T2DM pregnancies, LGA is characterized by a general fetal overgrowth including both AC and HC. Therefore, AC and EFW perform better than the HC/AC ratio in the prediction of LGA. In T2DM, as opposed to T1DM, the predictive performance was improved by the inclusion of maternal characteristics and HbA1c in the analysis.

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Introducción: El amniocele es una hernia del saco amniótico a través de un defecto en la pared del útero, el cual puede deberse a ruptura uterina, secundario a daños preexistentes, anomalías uterinas o en un útero sin cicatrices. Caso clínico: Presentamos el caso de una paciente de 37 años, con antecedente de dos partos por cesárea, a quien en la semana 25,5 de embarazo se le diagnostica por ecografía amniocele en la pared anterior de útero contenido por la vejiga, además de signos ecográficos de acretismo placentario. La posterior realización de resonancia magnética confirma el diagnóstico. Se realiza manejo expectante con estancia continua intrahospitalaria estricta. Resolución obstétrica a las 34 semanas por cesárea, con extracción fetal por fondo uterino sin complicaciones, con posterior realización de histerectomía con placenta in situ. Conclusiones: Este reporte de caso ilustra la importancia de la identificación temprana de esta condición por ser una complicación infrecuente, pero de grave pronóstico fetomaterno en ausencia de atención inmediata.

Introduction: Amniocele is a hernia of the amniotic sac through a defect in the uterine wall, which can be caused by uterine rupture secondary to preexisting damage, uterine anomalies, or a scarless uterus. Case report: We present a case of a 37-year-old patient with a history of two previous cesarean deliveries. At 25.5 weeks of gestation, the diagnosis of amniocele in the anterior uterine wall, contained by the bladder, along with ultrasound signs of placenta accreta, was confirmed through ultrasound. Subsequent magnetic resonance imaging further confirmed the diagnosis. Expectant management with strict continuous intrahospital stay was implemented. Obstetric resolution was achieved at 34 weeks through cesarean delivery, with uncomplicated fetal extraction through the uterine fundus. Subsequently, a hysterectomy was performed with the placenta left in situ. Conclusions: This case report illustrates the importance of early identification of this condition due to its infrequent but serious feto-maternal prognosis in the absence of immediate attention.

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INTRODUCTION: Classic bladder exstrophy (CBE) is a malformation of the genitourinary system that occurs due to failure of abdominal wall closure. Unlike other malformations of similar incidence, prenatal diagnosis of CBE relies on suggested, rather than formal, diagnostic criteria. OBJECTIVE: This report describes prenatal diagnosis of CBE in the largest single-institutional cohort to date and delineates key sonographic findings and protocols for specialist referral. MATERIALS AND METHODS: A single-institutional database was reviewed for CBE patients born since 2000. Data on screening ultrasound use, gestational age at ultrasound, and abnormal findings were extracted. Where possible, time of prenatal diagnosis (pre- or postnatal and gestational age), ultrasound findings and other imaging data, specialist referral, institution of birth and closure, and outcome of primary closure attempt were compared. RESULTS: Of 557 patients born with CBE between 2000 and 2022, 284 met inclusion criteria and complete data were available for 280 (229 born domestically and 51 born internationally) who were included for analysis. Abnormal sonography suggestive of CBE was present for 48% (n = 134) of patients, for whom absent bladder was the most common abnormal finding (76% [102/134]). Of domestic patients, 46% (n = 106) were diagnosed prenatally at a median gestational age of 22 weeks (inter-quartile range [IQR]: 20-24), and 14% (n = 32) underwent confirmatory fetal magnetic resonance imaging. Of domestic patients with abnormal prenatal findings, 75% (n = 80/106) consulted with maternal-fetal medicine and 58% (n = 62/106) consulted with pediatric urology. On univariate analysis, prenatal diagnosis was positively associated with primary repair at Association for the Bladder Exstrophy Community-recognized centers of excellence (54% vs. 38%, p = 0.02) and negatively associated with osteotomy at primary closure (41% vs 59%, p = 0.003) but not success of primary closure (74% vs. 82%, p = 0.07). DISCUSSION: Rates of prenatal diagnosis in this cohort were similar to previous reports of smaller cohorts. Diagnosis allows for comprehensive pre- and postnatal follow-up with a pediatric urologist, with implications on birth planning and decisions on termination of pregnancy. Because of the previously-reported association between exstrophy and in vitro fertilization, these pregnancies should undergo detailed sonography. Any nonvisualization of the fetal bladder should prompt a detailed exam, and any finding characteristic of bladder exstrophy warrants referral to pediatric urology. CONCLUSIONS: Although CBE is a rare disorder, it is underdiagnosed during pregnancy. Sonographers and obstetricians should be aware of characteristic findings and best practices following diagnosis. Early referral to pediatric urology and maternal-fetal medicine is important for counseling and postnatal planning.

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OBJECTIVE: Fetal anomaly screening via ultrasonography, which involves capturing and interpreting standard views, is highly challenging for inexperienced operators. We aimed to develop and validate a prenatal-screening artificial intelligence system (PSAIS) for real-time evaluation of the quality of anatomical images, indicating existing and missing structures. METHODS: Still ultrasonographic images obtained from fetuses of 18-32 weeks of gestation between 2017 and 2018 were used to develop PSAIS based on YOLOv3 with global (anatomic site) and local (structures) feature extraction that could evaluate the image quality and indicate existing and missing structures in the fetal anatomical images. The performance of the PSAIS in recognizing 19 standard views was evaluated using retrospective real-world fetal scan video validation datasets from four hospitals. We stratified sampled frames (standard, similar-to-standard, and background views at approximately 1:1:1) for experts to blindly verify the results. RESULTS: The PSAIS was trained using 134 696 images and validated using 836 videos with 12 697 images. For internal and external validations, the multiclass macro-average areas under the receiver operating characteristic curve were 0.943 (95% confidence interval [CI], 0.815-1.000) and 0.958 (0.864-1.000); the micro-average areas were 0.974 (0.970-0.979) and 0.973 (0.965-0.981), respectively. For similar-to-standard views, the PSAIS accurately labeled 90.9% (90.0%-91.4%) with key structures and indicated missing structures. CONCLUSIONS: An artificial intelligence system developed to assist trainees in fetal anomaly screening demonstrated high agreement with experts in standard view identification.

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INTRODUCTION: The purpose was to compare thymus size measured during second trimester screening of fetuses who were subsequently small for gestational age at birth (weight below 10th percentile, SGA group) with fetuses with normal birth weight (control group). We hypothesized that measuring the fetal thymic-thoracic ratio (TT-ratio) might help predict low birth weight. METHODS: Using three-vessel view echocardiograms from our archives, we measured the anteroposterior thymus size and the intrathoracic mediastinal diameter to derive TT-ratios in the SGA (n = 105) and control groups (n = 533) between 19+0 and 21+6 weeks of gestation. We analyzed the association between TT-ratio and SGA adjusted to the week of gestation using logistic regression. Finally, we determined the possible TT-ratio cut-off point for discrimination between SGA and control groups by means of receiver operating characteristics (ROC) curve analysis. RESULTS: The TT-ratio was significantly higher in the SGA group than in the control group (p < 0.001). An increase of the TT-ratio by 0.1 was associated with a 3.1-fold increase in the odds of diagnosing SGA. We determined that a possible discrimination cut-off point between SGA and healthy controls was achieved using a TT-ratio of 0.390 (area under the ROC curve 0.695). CONCLUSION: An increased TT-ratio may represent an additional prenatal screening parameter that improves the prediction of birth weight below the 10th percentile. Prospective studies are now needed to evaluate the use of fetal thymus size as predictive parameter for adverse fetal outcome.

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OBJECTIVE: To describe the texture characteristics in several anatomical structures within fetal ultrasound images by applying an image segmentation technique through an application developed in MATLAB mathematical processing software. METHODS: Prospective descriptive observational study with an analytical component. 2D fetal ultrasound images were acquired in patients admitted to the Maternal Fetal Medicine Unit of the Hospital de San José, Bogotá-Colombia. These images were loaded into the developed application to carry out the segmentation and characterization stages by means of 23 numerical texture descriptors. The data were analyzed with central tendency measures and through an embedding process and Euclidean distance. RESULTS: Forty ultrasound images were included, characterizing 54 structures of the fetal placenta, skull, thorax, and abdomen. By embedding the descriptors, the differentiation of biologically known structures as distinct was achieved, as well as the non-differentiation of similar structures, evidenced using 2D and 3D graphs and numerical data with statistical significance. CONCLUSION: The texture characterization of the labeled structures in fetal ultrasound images through the numerical descriptors allows the accurate discrimination of these structures.

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Background: The effect of modern infertility treatment modalities on fetal thymic volume has not been well known. Objective: 3-dimensional (3D) fetal thymus volumes of 18-24 wk in vitro fertilization (IVF) pregnancies and spontaneous pregnancy cases were compared. Materials and Methods: 135 cases were evaluated in this prospective case-control study. The study was conducted between July 2019 and July 2020 at a university hospital in Trabzon, Turkey. Fetal thymus volume was calculated in the pregnant cases included in the study with the help of the virtual organ computer-assisted analysis system included in the advanced ultrasonography system. The fetal thymus volumes were compared between pregnant women with IVF and spontaneous pregnant women. Results: The fetal thymus size was significantly lower in the IVF pregnancy group than in spontaneous pregnancy cases (p < 0.001). It was found that the fetal complications, such as non-reassuring fetal health status and requirement for neonatal intensive care, were higher in cases who became pregnant after IVF treatment. It was also found that the rate of any pregnancy complication was significantly higher in IVF pregnancy group (p = 0.02). Conclusion: In light of these results, it may be concluded that small fetal thymus size may be another fetal complication of IVF pregnancies.

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OBJECTIVES: The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic. MATERIALS AND METHODS: We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors. RESULTS: There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases). CONCLUSION: Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.

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This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation. Evaluation of the OC has been shown crucial in differentiating isolated agenesis of the septum pellucidum from septo-optic dysplasia. Multiple methods can be applied for imaging of the OC, including three-dimensional and two-dimensional ultrasounds in different views, as well as color Doppler. According to the literature, both transabdominal and transvaginal routes produce equally acceptable images. OC visualization might be challenging but can be achieved by developing a standard scanning protocol and raising awareness.

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BACKGROUND: To study the validity of an artificial intelligence (AI) model for measuring fetal facial profile markers, and to evaluate the clinical value of the AI model for identifying fetal abnormalities during the first trimester. METHODS: This retrospective study used two-dimensional mid-sagittal fetal profile images taken during singleton pregnancies at 11-13+ 6 weeks of gestation. We measured the facial profile markers, including inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial-maxillary angle (FMA), frontal space (FS) distance, and profile line (PL) distance using AI and manual measurements. Semantic segmentation and landmark localization were used to develop an AI model to measure the selected markers and evaluate the diagnostic value for fetal abnormalities. The consistency between AI and manual measurements was compared using intraclass correlation coefficients (ICC). The diagnostic value of facial markers measured using the AI model during fetal abnormality screening was evaluated using receiver operating characteristic (ROC) curves. RESULTS: A total of 2372 normal fetuses and 37 with abnormalities were observed, including 18 with trisomy 21, 7 with trisomy 18, and 12 with CLP. Among them, 1872 normal fetuses were used for AI model training and validation, and the remaining 500 normal fetuses and all fetuses with abnormalities were used for clinical testing. The ICCs (95%CI) of the IFA, MNM angle, FMA, FS distance, and PL distance between the AI and manual measurement for the 500 normal fetuses were 0.812 (0.780-0.840), 0.760 (0.720-0.795), 0.766 (0.727-0.800), 0.807 (0.775-0.836), and 0.798 (0.764-0.828), respectively. IFA clinically significantly identified trisomy 21 and trisomy 18, with areas under the ROC curve (AUC) of 0.686 (95%CI, 0.585-0.788) and 0.729 (95%CI, 0.621-0.837), respectively. FMA effectively predicted trisomy 18, with an AUC of 0.904 (95%CI, 0.842-0.966). MNM angle and FS distance exhibited good predictive value in CLP, with AUCs of 0.738 (95%CI, 0.573-0.902) and 0.677 (95%CI, 0.494-0.859), respectively. CONCLUSIONS: The consistency of fetal facial profile marker measurements between the AI and manual measurement was good during the first trimester. The AI model is a convenient and effective tool for the early screen for fetal trisomy 21, trisomy 18, and CLP, which can be generalized to first-trimester scanning (FTS).

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BACKGROUND: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. METHODS: We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported. RESULTS: In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes. CONCLUSIONS: Our work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.

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OBJECTIVE: We present prenatal ultrasound images of two high anal atresia cases. The main screening tool used in our clinic is the "target sign" in the tangential view of the fetal perineum. In the current report, we discuss some challenges in the existing screening practices. CASE REPORT: CASE 1: A 28-year-old woman (gravida 1, para 0) with a twin pregnancy underwent ultrasound screening at 21 weeks of gestation when an absent "target sign" in twin A was discovered. At the same time, we were able to present evidence that if the wrong plane was visualized, other structures could be mistaken as the "target sign". Eventually, high-type anal atresia was confirmed postnatally in Twin A. CASE 2: A 29-year-old woman (gravida 1, para 0) came to our clinic for routine screening at 23 weeks of gestation. In the standard tangential view at the level of the perineum, a low-high concentric circle structure resembling a "target sign" was visualized during a prenatal scan. However, anal atresia was discovered postnatally. A retrospective review of prenatal images revealed discrepancies from the typical "target sign". CONCLUSION: High-type anal atresia may present as a pseudo "target sign" on prenatal ultrasound. Visualization of a "target sign" on fetal ultrasound does not always exclude the diagnosis of anal atresia. It is crucial to evaluate the size, shape, level, and position of the "target sign". The appearance of the bilateral hyperechoic perianal tissue is a hint for the screening of anal atresia.

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CONTEXT: The current EAU/ESPU and recently retired AAP pediatric UTI guidelines recommend renal bladder ultrasound after first febrile UTI in children to screen for structural abnormalities, regardless of findings on prenatal ultrasound. OBJECTIVE: Test the hypothesis that a normal prenatal ultrasound could rule out urinary tract abnormality on post-UTI ultrasound. DATA SOURCES: Medline, Embase, Cochrane Library. STUDY SELECTION: Studies including pediatric patients with first febrile UTI who had both prenatal and post-UTI ultrasound. DATA EXTRACTION: Anatomical abnormalities detected by prenatal and post-UTI ultrasound as reported per individual study criteria were extracted. Meta-analyses of 9 studies (2981 patients) were performed using a random-effects model and composite estimates of the negative predictive value (NPV) of prenatal ultrasound were calculated. RESULTS: Overall summary NPV of prenatal ultrasound for all pediatric patients was 77%, with heterogeneity score (I2) 97.9%. Summary NPV of prenatal ultrasound for all patients under two years of age was similar at 75%, with I2 98.2% For the 4 studies to which we could apply a more stringent definition of abnormality, summary NPV was 85% and I2 97.5% for prediction of moderate post-UTI ultrasound abnormalities and summary NPV was 93% and I2 90.4% for severe abnormalities. DISCUSSION: While we calculated an 85% NPV for a normal prenatal ultrasound to rule out significant postnatal abnormality as defined within individual studies, substantial heterogeneity amongst publications limited the precision of our estimates. This highlights the need for more rigorous investigations with attention to timing of ultrasound and the application of clinically meaningful definitions for abnormal prenatal and post-UTI studies. This may allow judicious use of prenatal ultrasound to guide clinical management for children with first febrile UTI and minimize redundant imaging with potential for false positive results. Until then, the current guidelines are justified based on the limited and heterogenous data from the currently available published studies.

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