Purpose To introduce the cranial-dorsal-hip angle (angle CDH) as a novel quantitative tool for assessing fetal position in the first trimester and to validate its feasibility for future AI applications. Materials and Methods 2520 first-trimester fetal NT exams with 2582 CRL images (January-August 2022) were analyzed at a tertiary hospital as the pilot group. Additionally, 1418 cases with 1450 fetal CRL images (September-December 2022) were examined for validation. Three expert sonographers defined a standard for fetal positions. angle CDH measurements, conducted by two ultrasound technicians, were validated for consistency using Bland-Altman plots and the intra-class correlation coefficient (ICC). This method allowed for categorizing fetal positions as hyperflexion, neutral, and hyperextension based on angle CDH. Comparative accuracy was assessed against Ioannou, Wanyonyi, and Roux methods using the weighted Kappa coefficient (k value). Results The pilot group comprised 2186 fetal CRL images, and the validation group included 1193 images. Measurement consistency was high (ICCs of 0.993; P<0.001). The established 95% reference range for angle CDH in the neutral fetal position was 118.3 degrees to 137.8 degrees. The angle CDH method demonstrated superior accuracy over the Ioannou, Wanyonyi, and Roux methods in both groups, with accuracy rates of 94.5% (k values: 0.874, 95%CI: 0.852-0.896) in the pilot group, and 92.6% (k values: 0.838, 95%CI: 0.806-0.871) in the validation group. Conclusion The angle CDH method has been validated as a highly reproducible and accurate technique for first-trimester fetal position assessment. This sets the stage for its potential future integration into intelligent assessment models.

Background Complete cryptophthalmos, congenital aphakia, and corneal vascularization are relatively uncommon congenital eye malformations during the fetal period. Herein, we report a case of a fetus with complete cryptophthalmos, congenital aphakia, and corneal vascularization in both eyes and review previous prenatal reports of related cases. Case presentation The patient was a 27-year-old pregnant woman, gravida 2, para 1, who was referred to our hospital for consultation at 23 weeks of gestation due to a diagnosis of fetal right renal agenesis at an external hospital. The ultrasound system of our hospital diagnosed the fetus with complete cryptophthalmos, congenital aphakia, and corneal vascularization, which was verified under the postnatal water basin test, anatomical and pathological sections. Conclusions Fetal ocular malformations are often associated with malformations of other organs, and if ultrasound findings are associated with such malformations, attention should be paid to the ocular examination to avoid missing the diagnosis.

Objective: This study aimed to ascertain the conus medullaris position by counting the number of ossification centers in the vertebral bodies below the conus medullaris endpoint (N) and assess its utility in screening for closed spinal dysraphism and tethered cord syndrome. Methods: A total of 900 normal fetuses and 146 fetuses with closed spinal dysraphism or tethered cord syndrome were included in this study. The N values were tallied and compared along the spinal longitudinal plane. The receiver operating characteristic curve was utilized, and the cut-off value of N was analyzed. Results: The counting of N was successfully performed in 856 normal and 146 abnormal fetuses. In the normal group, an increase in N with gestational age was observed. Specifically, in the subgroup of 17-20 wk fetuses, N was >= 6 in 117 out of 131 cases. This figure increased to 211 out of 213 in 21-24 wk and 512 out of 512 in 25 -41 wk, respectively. Cases with N >= 7 accounted for 715 out of 856 fetuses in the 17-41 wk range. In the abnormal group, N was less than 7 in 152 out of 163 fetuses, showing statistical differences between the two groups. With a cut-off value of 6.5, specificity and sensitivity reached 93.3% and 83.5%. Conclusions: The counting of N was found to be a straightforward and efficient method for evaluating the position of the conus medullaris.

This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that AXIN1 and FOXC1 mutations may be related to CCD.

BACKGROUND:Accurate segmentation of critical anatomical structures in fetal four-chamber view images is essential for the early detection of congenital heart defects. Current prenatal screening methods rely on manual measurements, which are time-consuming and prone to inter-observer variability. This study develops an AI-based model using the state-of-the-art nnU-NetV2 architecture for automatic segmentation and measurement of key anatomical structures in fetal four-chamber view images. METHODS:A dataset, consisting of 1,083 high-quality fetal four-chamber view images, was annotated with 15 critical anatomical labels and divided into training/validation (867 images) and test (216 images) sets. An AI-based model using the nnU-NetV2 architecture was trained on the annotated images and evaluated using the mean Dice coefficient (mDice) and mean intersection over union (mIoU) metrics. The model's performance in automatically computing the cardiac axis (CAx) and cardiothoracic ratio (CTR) was compared with measurements from sonographers with varying levels of experience. RESULTS:The AI-based model achieved a mDice coefficient of 87.11% and an mIoU of 77.68% for the segmentation of critical anatomical structures. The model's automated CAx and CTR measurements showed strong agreement with those of experienced sonographers, with respective intraclass correlation coefficients (ICCs) of 0.83 and 0.81. Bland-Altman analysis further confirmed the high agreement between the model and experienced sonographers. CONCLUSION:We developed an AI-based model using the nnU-NetV2 architecture for accurate segmentation and automated measurement of critical anatomical structures in fetal four-chamber view images. Our model demonstrated high segmentation accuracy and strong agreement with experienced sonographers in computing clinically relevant parameters. This approach has the potential to improve the efficiency and reliability of prenatal cardiac screening, ultimately contributing to the early detection of congenital heart defects.

Objective:To determine the variation of cerebellar fissure with gestational weeks in normal fetuses and to establish the numeric reference range for fetal cerebellar fissure at 16-32 weeks.Methods:From June 2019 to December 2020, 644 singleton fetuses with no structural abnormalities diagnosed by prenatal ultrasound were selected as study subjects at Shenzhen Maternal and Child Health Hospital, and divided into two groups: fetuses at 12-15 weeks of gestation and those at 16-32 weeks. The primary fissure and horizontal fissure in two-dimensional images were observed, the number of cerebellar fissures at 16 to 32 weeks of gestation counted, and the morphological changes analyzed. Forty fetuses were randomly sampled and tested for repeatability between two observers. The normal numeric reference range for cerebellar fissure between 16 and 32 weeks of gestation was established. The correlation between the number of cerebellar fissures and gestational age was analyzed by Spearman correlation, and fitting equations were then established.Results:There was no significant difference in the repeatability test between the two observers. The scatter plots showed that the number of cerebellar fissures were positively correlated with gestational age (r=0.863, 0.698, 0.831, and 0.932, P＜0.001). Quadratic polynomial regression equations were each fitted to the models. The regression equations for the number of cerebellar fissures in three different regions and the total number of fissures were Y=0.974X-0.014X2 -12.65, Y=0.362X-0.005X2 -4.843, Y=-0.125X+0.006X2+0.285, and Y=1.800X-0.024X2 -22.904, respectively.Conclusion:Prenatal ultrasound can be used to observe and evaluate the development of fetal cerebellar fissures. The numeric reference range and morphological changes of the normal fetal cerebellar fissures may be useful for prenatal evaluation of the development of the cerebellar cortex.

We aimed to evaluate the Sylvian fissure plateau by Sylvian fissure plateau angle (SFPA) in axial views at 23 -28 wk gestation.Methods: A prospective ultrasound evaluation of 180 normal and 3 abnormal singleton pregnant women was conducted at 23-28 wk gestation. All cases were assessed in three axial planes of the fetal brain (the transthalamic, transventricular and transcerebellar plane) using transabdominal 2-D images. The SFPAs of all cases were measured between the brain midline and a line drawn along the Sylvian fissure plateau. Intraclass correlation coefficients (ICCs) were used to assess the intra- and inter-observer repeatability of SFPA measurements. Results: The SFPAs in normal cases in the transthalamic, transventricular and transcerebellar planes were all above y = 0, while in abnormal cases were below y = 0. However, there was no major difference between the angles measured on the transthalamic and transventricular planes (p = 0.365). There was a major difference between the SFPAs on the transcerebellar plane and transthalamic/transventricular plane (p < 0.05). The intra- and interobserver ICCs were excellent at 0.971 (95% confidence interval [CI]: 0.945-0.984) and 0.936 (95% CI: 0.819 -0.979), respectively. Conclusion: The SFPAs of the normal cases in three axial views were stable at 23-28 wk gestation, suggesting that 0 & DEG; may be a good cut-off value for evaluating abnormal SFPA. Findings offer a potential method by which the SFPA < 0 & DEG;, as shown in three abnormal cases described herein, can be evaluated prenatally and thus serve as another tool for malformations of cortical development assessment, especially for frontoobitalopercula dysplasia. We recommend use of SFPA of the transthalamic plane to evaluate the Sylvian fissure in clinical work.

ObjectivesThis study aimed to evaluate the feasibility of direct visualization of a normal fetal palate and detect cleft palate in the first trimester with a novel three-dimensional ultrasound (3D US) technique, Crystal and Realistic Vue (CRV) rendering technology.MethodsTwo-dimensional (2D) images and 3D volumes of healthy and cleft palate fetuses at 11–13+6 weeks were obtained prospectively. 2D ultrasound views included the coronal view of the retronasal triangle and the midsagittal view of the face. 3D-CRV views were analyzed by multiplanar mode display. The pregnancy outcomes of all fetuses were determined during the follow-up period.ResultsIn our study, 124 fetuses were recruited, including 100 healthy fetuses and 24 cleft palate fetuses. The cleft palate with lip was observed in 23 fetuses (bilateral in 15, unilateral in 6, median in 2), and one cleft palate was only found in the abnormal group. The bilateral (n = 12) and median (n = 2) cleft palates with lips and the cleft palate alone (n = 1) were associated with other anatomical or chromosomal abnormalities, and one unilateral cleft palate with cleft lip had concomitant NT thickening. In the cleft palate fetus group, 16 fetuses suffered intrauterine death, which was associated with other structural or chromosomal abnormalities in 14 fetuses, seven cases were terminated after consultation, and one was delivered at term. The coronal view of the retronasal triangle and the midsagittal view was easily obtained in all fetuses. 3D-CRV images of palatal parts were clearly obtained in all cases. Unilateral, bilateral, and median cleft palates with cleft lips were visually demonstrated and classified by the 3D-CRV technique.ConclusionIt is feasible to identify the palate by 3D-CRV in the first trimester in both healthy and cleft palate fetuses. Together with 2D ultrasonography as a complementary diagnostic tool, 3D-CRV is helpful in classifying the cleft palate with a reasonable degree of certainty.

Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.

Objective:To explore the prenatal ultrasound features of fetal cerebellar cortical dysplasia.Methods:Referring to the relevant literature on cerebellar cortical dysplasia and based on its magnetic resonance imaging findings, anatomy, genetic results, and clinical prognosis, the prenatal ultrasonographic manifestations of 19 fetuses with cerebellar cortical dysplasia diagnosed by ultrasound at Department of Ultrasound, Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University from January 2017 to December 2020 were summarized.Results:The prenatal ultrasonogram of cerebellar cortical dysplasia was characterized by abnormal orientation of fissures, and oblique, vertical, or distorted fissures. Genetic tests were performed in 12 cases, of which 9 had positive results and 3 had negative results. Three of the 19 fetuses after birth were followed up to 17 months, 24 months, and 24 months, respectively; the head circumference of one case was larger than that of normal infants of the same age though no obvious abnormality in psychomotor development was found, one case had only fine motor deficiency, and one case had poor outcome, including global developmental delay, mental retardation, and epilepsy. Pregnancy was terminated in all the other 16 cases.Conclusion:Cerebellar cortical dysplasia can be prenatally diagnosed based on the characteristic ultrasonic features. Cerebellar cortical dysplasia rarely presents as a single finding and is commonly associated with malformations of the brain or other posterior fossa malformations, chromosomal abnormalities, and genetic syndromes. It is difficult to accurately assess the risk of poor prognosis of cerebellar cortical dysplasia.

Objective:To analyze the prenatal ultrasound characteristics of fetal harlequin ichthyosis (HI).Methods:From January 2004 to August 2020, five fetuses were prenatally diagnosed with HI at Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Zhangzhou Third Hospital, Harbin Red Cross Central Hospital, The Affiliated Hospital of Guizhou Medical University, and The People’ s Hospital of Zhijin County and were verified by genetic testing results and postpartum manifestations. The key points of prenatal ultrasound characteristics and differential diagnosis of HI were summarized and analyzed based on the literature.Results:Both facial and limb abnormalities, including eclabium and clenched fist, were found by prenatal ultrasound in all five HI fetuses (ectropion and flat nose were observed in four fetuses), and other anomalies included chapped and thickened skin (3 cases), and abnormal amniotic fluid (2 cases). The result of whole-exon sequence analysis was available in one case, indicating mutation of the ABCA12 gene. All the postpartum fetuses presented with chapped and thickened yellow skin, eclabium, ectropion, flat nose, microtia, and fixed extremities, which confirmed the prenatal ultrasound diagnosis.Conclusion:Prenatal screening and diagnosis of HI are possible based on the findings of sonographic examination. Facial and limb abnormalities are the most important characteristics.

目的 观察产科超声图像智能质量控制系统(IU QCS)的效能.方法 以IU QCS评价64家深圳医院573名医师采集的164010幅6774胎孕中晚期胎儿声像图的质量,由2名专家(E1/E2)对其中57444幅单幅图像进行质控;对比其对切面分类及标准程度的质控效能和一致性及耗时差异.结果 IU QCS质控总体标准率为81.16％,基本标准率10.10％,非标准率8.74％.IU QCS与E1/E2质控切面分类总体符合率分别为97.61％(56071/57444)及97.65％(56092/57444),一致性强(Kappa均>0.933);标准程度评价总体符合率为89.72％(50307/56071)及89.67％(50300/56092),一致性较强(Kappa均=0.658).IUQCS每100幅质控耗时明显小于人工质控[33(29,37)s vs.705(680,730)s vs.720(696,751)s,Z均=-20.776,P均<0.001].结论 利用产科IUQCS可较为准确、高效地实现图像质控.

目的 探讨应用三维水晶反转仿真成像技术(3D-ICRV)分析正常胎儿脑沟和脑回发育变化规律的方法.方法 选取2019年1月至2021年12月于南方医科大学第一临床医学院附属深圳妇幼保健院进行产前检查的正常孕周连续的单胎妊娠孕妇,连续孕周段为15～35孕周,使用经腹超声以丘脑横切面获取三维容积.采用一种全新的3D-ICRV超声技术,对胎儿大脑半球的脑沟回进行大脑表面3D-ICRV成像,选取其中能够清晰显示胎儿脑表面沟回的容积,观察并描述胎儿大脑表面脑沟脑回的发育变化规律.所有病例均进行了产后随访.结果 300例正常连续孕周的单胎胎儿纳入研究.成功获取颅脑容积及清晰的3D-ICRV图像的胎儿共294例,成功率为98％(294/300).每例胎儿选取2个最佳的颅脑容积,共计588个颅脑容积进行分析.脑沟回在3D-ICRV成像上呈现一种相对恒定的变化发育规律,在妊娠15～25周,外侧裂是第一个也是唯一能在3D-ICRV图像上被识别的结构.从26～35孕周,除大脑外侧裂发生变化外,脑表面的沟、回相继出现,并逐渐加深.其中,在26周最先出现中央沟及颞上沟,然后依次出现额上沟、顶内沟、额下沟、颞下沟等.25～30孕周是大多数脑沟回显现的主要时期,是评价皮质发育的最佳时期.结论 应用3D-ICRV成像可以显示正常胎儿脑沟回发育变化规律,了解这些变化对产前评估大脑皮层发育成熟度及进一步的临床咨询和管理具有重要意义.

Abstract Purpose To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. Materials and Methods We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. Results Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the “double ring” sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. Conclusion Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.

近年应用高分辨率和彩色多普勒超声可在胎儿心脏不同切面上将冠状静脉窦显示出来,其中孕16～40周正常胎儿冠状静脉窦的显示率为97.4％[1].产前常规超声筛查胎儿心脏易发现扩张的冠状静脉窦是发现胎儿心血管先天畸形的重要线索,对围产预后评估起着重要作用.本文对冠状静脉窦胚胎发育特点、引起胎儿冠状静脉窦扩张的发病原因及其相关预后和产前超声表现进行归纳总结.

目的 观察胎儿尾部退化综合征(CRS)产前超声表现.方法 回顾性分析32胎CRS产前超声资料,观察其超声表现及伴发异常.结果 32胎中,7胎于妊娠早期(

Objective:To assess the significance of counting the number of caudal vertebral ossification centers (OCN) below fetal terminal conus medullaris in the screening for closed spina bifida and tethered cord syndrome (TCS).Methods:The OCN was counted in 961 normal fetuses(normal group) between 17 and 41 gestational weeks and in 140 fetuses with closed spina bifida or tethered cord syndrome(abnormal group) from Jan.2013 to Dec.2020 in Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Women and Children′s Hospital, School of Medicine, Xiamen University and Maternity and Child Health Care of Guangxi Zhuang Autonomous Region. The OCN was counted in the dorsal mid-sagittal section of fetal caudal spine.The reliability and agreement test were evaluated by intraclass correlation coefficients in another 50 normal fetuses. The OCN was compared between two groups. ROC curve and the cut-off value were constructed and calculated.Results:In normal group, the N increased with the growing of gestational age.In the subgroup of 17-20 weeks, the OCN ranged from 5 to 7 in most fetuses. In the others subgroups, the OCN was equal to or greater than 6 in 99.9% cases and more than 6 in 97.1% cases. In abnormal group, OCN was less than 7 in 93.0% fetuses and less than 6 in 82.8% cases. There were statistical differences between the two groups except for the subgroup of 17-20 gestational weeks( P<0.05). With the cut-off value of 6.5, the specificity and sensitivity were 93.0% and 94.3% respectively for predicting the presence of closed spinal dysraphism or TCS. Conclusions:OCN is a simple way to evaluate the position of conus medullaris and to screen for the skin-covered spine dysraphism or TSC. OCN is more than 6 in most normal fetuses. Further evaluation of spine is required in fetuses with N less than or equal to 6.

Objective:To evaluate the clinical value of prenatal three-dimensional (3D) inversion imaging of the sylvian fissure, parietal occipital sulcus, and calcarine sulcus.Methods:The sylvian fissure, parietal occipital sulcus, and calcarine sulcus were assessed prospectively by 3D ultrasound (3D-US) inversion imaging and two-dimensional ultrasound (2D-US) in 133 fetuses with no structural abnormalities between 19 and 36+6 weeks of gestation at Shenzhen Maternity and Child Healthcare Hospital from June 2019 to July 2020. The examinations were divided into six groups according to gestational age. For each group, these sulci were assessed as absent or present. The changes of these 3D sulci imaging were observed in different groups. Thirty fetuses were randomly selected for intra- and inter-observer reproducibility testing by pearson chi-square test.Results:Along with the increase of the gestation age in different groups, the rates of 2D and 3D examinations to display the structures both became higher and higher. 2D-US and 3D-US showed 100% of sylvian fissure, parietal occipital sulcus, and calcarine sulcus at 22, 23, and 24~36 weeks, respectively. The display rate had no statistical difference between 2D-US and 3D inverted ultrasound in the six groups (P＞0.05). However, 3D inversion ultrasound was more vivid and intuitive than 2D-US. No significant intra- and inter-observer variability was found.Conclusion:3D inversion imaging can be used to better observe the morphological and spatial changes of the sylvian fissure, parietal occipital sulcus, and calcarine sulcus during middle and late pregnancy, which is an intuitive supplementary means for prenatal evaluation of cerebral cortex development and provides a new idea for future teaching and research of cerebral cortex development.