BACKGROUND:Galloway-Mowat syndrome type 3 (GAMOS3) is a rare autosomal recessive disorder characterized by the co-occurrence of renal and neurological abnormalities in early childhood, caused by OSGEP gene variants. AIM:This study aims to characterize the genetic and phenotypic spectrum of GAMOS3 and evaluate correlations from prenatal imaging features to lifelong neurological and renal manifestations. METHOD:We retrospectively reviewed the medical records of cases genetically diagnosed with OSGEP-associated GAMOS3 at our center between January 2016 and August 2024. Additionally, a systematic review of reported cases in literature was conducted. The clinical validity of the gene-disease relationship between OSGEP and GAMOS3 was also evaluated in accordance with the ClinGen Gene-Disease Clinical Validity Curation Framework. RESULTS:The postnatal renal and neurological dysfunction was associated with prenatal manifestations, indicating disease progression. Prominent prenatal features included fetal growth restriction (FGR), microcephaly, oligohydramnios and abnormal cranial imaging. Notably, FGR worsened with advancing gestation, predominantly affecting fetal head and abdominal growth while sparing long bones. Fetal central nervous system magnetic resonance imaging revealed uncommon findings such as abnormal sulcation and increased T2 signal in the white matter, suggestive of myelination defects or leukoencephalopathy. Trio-based medical exome sequencing identified novel variants in the OSGEP gene within this cohort, expanding the known genetic spectrum of GAMOS3. Furthermore, the gene-disease relationship between OSGEP and GAMOS3 was conclusively validated as 'Definitive' according to clinical-genetic criteria. CONCLUSIONS:This study provides a comprehensive overview of the clinical phenotypes and genetic spectrum of GAMOS3, spanning from the prenatal period throughout the life course.

OBJECTIVE:This study aimed to evaluate the sonographic features of giant fetal hepatic hemangioma (GFHH) as predictors of complications and outcomes. METHODS:We conducted a retrospective analysis of prenatally diagnosed GFHH cases between 2014 and 2024, reviewing ultrasonographic features, complications, and neonatal outcomes. RESULTS:Among 36 fetuses, 38.9% exhibited homogeneous masses and 61.1% showed heterogeneous masses. Peripheral annular or semi-annular blood flow was observed in 88.9% of cases. Heterogeneous echogenicity was more frequent in the complicated group (93.3%, 14/15) than in the uncomplicated group (38.1%, 8/21) (p < 0.01). Significant differences were identified between the complicated and uncomplicated groups regarding the presence of vascularity, arteriovenous fistula (AVF), hepatic artery peak systolic velocity (HAPSV) (> 106 cm/s), and hepatic vein dilation (≥ 3 veins) (all p < 0.05). The survival rate was 100% among the 21 fetuses in the uncomplicated group, compared with 73.3% among the 15 fetuses in the complicated group. CONCLUSION:The typical presentation of GFHH is a well-defined hypoechoic mass with peripheral circular or semicircular vascularity. Homogeneous masses are predictive of favorable outcomes, whereas within heterogeneous masses, features such as hypervascularity, AVF, HAPSV > 106 cm/s, and dilation of three hepatic veins are closely correlated with an increased risk of complications.

OBJECTIVE:To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI). METHODS:This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed. RESULTS:Five fetuses with CD were included, three of which had a definite combination of ARPKD and suspected in the other 2. Prenatal ultrasonography revealed multiple intrahepatic bile duct dilatations in four fetuses, each of which displayed the "horn comb" sign in a cross-section of the liver. All five fetuses had abnormal kidney ultrasounds: three showed enlarged and hyperechogenic kidneys and two showed hyperechogenic kidneys. The MRI scans of all fetuses showed a "central dot" (C-DOT) sign in the liver. By MRI, three fetuses had enlarged kidneys, one slightly had hyperintensity kidneys, and one had no significant kidney abnormalities. Pregnancy termination was chosen in all cases. CONCLUSIONS:CD may be identified by fetal ultrasound through the characteristic arrangement of intrahepatic dilated bile ducts ("horn comb" sign). Fetal MRI is advantageous for detecting the C-DOT sign, which confirms the diagnosis of CD. In our experience, these findings tend to become apparent in the late second to early third trimester of pregnancy.

Objective: To evaluate the diagnostic utility of ultrasound, magnetic resonance imaging (MRI), and Genetic Analysis in the prenatal identification of Miller-Dieker syndrome (MDS) to improve early detection and diagnostic accuracy. Methods: We conducted a retrospective analysis of four fetuses with MDS diagnosed via array comparative genomic hybridization (aCGH). The data included maternal demographics, prenatal ultrasound and MRI findings, aCGH results, and pregnancy outcomes. Results: The four fetuses exhibited classic MDS-associated brain malformations on MRI, including lissencephaly/ pachygyria. Prenatal ultrasound revealed lissencephaly/pachygyria and Sylvian fissure abnormalities in three cases, ventriculomegaly with polyhydramnios in two, fetal growth restriction in two, cavum septum pellucidum widening in one, bilateral ependymal cysts in one, and a minor omphalocele in one. Parental karyotyping confirmed de novo mutations in all cases. Pregnancy management included selective fetal reduction (n = 1) and termination (n = 3). aCGH revealed deletions (1.7-4.77 Mb) spanning the MDS-critical region (17p13.3), with all cases involving PAFAH1B1 haploinsufficiency. Notably, larger deletions were correlated with more severe neuroimaging abnormalities. Conclusions: Combining prenatal ultrasound with MRI effectively revealed MDS-related structural brain anomalies, while aCGH precisely delineated 17p13.3 deletions. This multimodal approach significantly enhances diagnostic accuracy, facilitating early intervention and informed genetic counseling.

Background: Transperineal ultrasound (TPUS) is a vital examination method for diagnosing pelvic floor diseases. However, the quality of TPUS largely relies on the operator's experience, and there is a lack of studies on the evaluation of TPUS quality. Therefore, the objective of this study was to assess the quality of TPUS examinations in Chinese tertiary medical centers.Methods: This multicenter study conducted in 44 Chinese tertiary medical centers recruited postpartum women between September 2020 and September 2021. All participants underwent a standardized inquiry and TPUS examination. The participating centers were required to submit 5 parts of ultrasound data to the National Ultrasound Quality Control Center: 2-dimensional images at rest, 2-dimensional images at strain; 4-dimensional images of the levator ani hiatus; 4-dimensional images of the levator ani muscle; and 4-dimensional images of the anal sphincter. Quality assessment was performed by 2 experts with more than 5 years of experience in TPUS, and the reasons for nonqualification were stated.Results: In this study, 31 hospitals that were distributed across 20 provinces in China were included, submitting 2,251 cases in total. The overall qualified rate ranged from 12.00% to 86.92%. In each part, the qualified rate of 2-dimensional images at rest, 2-dimensional images at straining, levator ani hiatus, levator ani muscle, and anal sphincter was 94.27% (2,122/2,251), 78.54% (1,768/2,251), 85.52% (1,925/2,251), 93.03% (2,094/2,251), and 88.09% (1,983/2,251), respectively. Most of the nonqualified images belonged to 2-dimensional images at strain, and the errors in image acquisition (221/483, 45.76%) and measurement (262/483, 54.24%) were the main reasons for nonqualification. For levator ani hiatus images, error in image acquisition (275/326, 84.36%) was the main reason for nonqualification. Reconstruction error was the most common reason for nonqualification for levator ani muscle (133/157, 84.71%) and anal sphincter images (133/268, 49.63%). Conclusions: This multicenter study assessed the quality of TPUS in tertiary medical centers in China and identified the common reasons for nonqualification in each part. These findings can aid in forming the basis for quality control management and training for TPUS.

Objective:To investigate the reference range of the length and thickness of the fetal vomer-palate diameters at 11-13 + 6 weeks, and their role in the diagnosis of cleft lip and palate(CLP). Methods:From May 2020 to August 2021, 1 559 pregnant women who underwent ultrasound examination at 11-13 + 6 weeks in Guangdong Women and Children Hospital were selected, and the fetal vomer-palate in the median sagittal plane of the face was observed. The length and thickness diameters of the fetal were measured separately to establish the reference value range of normal fetal.The reference range was compared with the vomer-palate data of fetuses with confirmed CLP. Results:The 1 518 normal fetuses were divided into 11-13 + 6 weeks, 12-12 + 6 weeks and 13-13 + 6 weeks. The reference values of the long diameter of fetal vomer-palatine were 4.3-5.9 mm, 5.0-6.8 mm, 5.4-7.7 mm, and the reference values of the thick diameter were 2.0-2.9 mm, 2.2-3.4 mm, and 2.5-3.8 mm, respectively. The length and thickness of the fetal vomer-palatine were significantly positively correlated with the Crown-rump length ( rs=0.733, 0.634; all P<0.001). In the 1 559 fetals, 25 cases were diagnosed and confirmed with CLP, and the vomer-palate thickness diameters were smaller than the reference values in all cases, meanwhile, the vomer-palate length diameters of 22(88.0)% cases were smaller than the reference values. Conclusions:The reference range of fetal vomer-palate length and thickness at 11-13 + 6 weeks of gestation is valuable for the screening of fetal CLP.

Congenital malformations of the central nervous system are among the most common major congenital malformations. Deep learning systems have come to the fore in prenatal diagnosis of congenital malformation, but the impact of deep learning-assisted detection of congenital intracranial malformations from fetal neurosonographic images has not been evaluated. Here we report a three-way crossover, randomized control trial (Trial Registration: ChiCTR2100048233) that assesses the efficacy of a deep learning system, the Prenatal Ultrasound Diagnosis Artificial Intelligence Conduct System (PAICS), in assisting fetal intracranial malformation detection. A total of 709 fetal neurosonographic images/videos are read interactively by 36 sonologists of different expertise levels in three reading modes: unassisted mode (without PAICS assistance), concurrent mode (using PAICS at the beginning of the assessment) and second mode (using PAICS after a fully unaided interpretation). Aided by PAICS, the average accuracy of the unassisted mode (73%) is increased by the concurrent mode (80%; P < 0.001) and the second mode (82%; P < 0.001). Correspondingly, the AUC is increased from 0.85 to 0.89 and to 0.90, respectively (P < 0.001 for all). The median read time per data is slightly increased in concurrent mode but substantially prolonged in the second mode, from 6 s to 7 s and to 11 s (P < 0.001 for all). In conclusion, PAICS in both concurrent and second modes has the potential to improve sonologists' performance in detecting fetal intracranial malformations from neurosonographic data. PAICS is more efficient when used concurrently for all readers.

ObjectiveTo describe the prenatal ultrasound (US) findings, genetic results, and clinical outcomes of fetuses with suspected agenesis of the septum pellucidum (ASP) in the Chinese population. MethodsThis retrospective, single-center study included a cohort of fetuses with ASP diagnosed by prenatal imaging over a 10-year period. We evaluated US findings, associated anomalies, genetic results, and clinical outcomes. Prenatal and postnatal imaging findings were compared as well as the clinical outcome of delivery. ResultsNinety patients were included, with a median follow-up time of 36 months (1-96 months). Thirty-six fetuses (40%) with isolated ASP were diagnosed by prenatal US or magnetic resonance imaging (MRI); 39 cases (43.3%) had ASP with central nervous system malformations and 15 cases (16.6%) had ASP with non-CNS abnormalities. Additional imaging findings were supplemented with prenatal MRI in 13 cases. Genetic tests were performed on 32 patients, of whom six had abnormalities. Prenatal US results of 40 patients (40/70) diagnosed by referral hospitals did not correspond to our findings. Of the 38 patients with postnatal records, 11 had abnormal neurological development. Conclusion(s)The outcome of an isolated ASP is usually favorable; however, neurological developmental delay is commonly observed if it is combined with other malformations.

Abstract Background Fetal facial profile could be measured during the early pregnancy. Its abnormalities might be associated with certain congenital malformations. We aimed to study the associations between fetal facial profile measurements with crown-rump length and congenital malformations (cleft lip and palate, micrognathia, and open spina bifida) during early pregnancy. Methods We performed a prospective cross-sectional study between June 2019 and April 2022. Pregnant women at a gestational age between 11–13+ 6 weeks were enrolled. Two sonographers performed fetal facial profile measurements independently. The associations between these measurements with crown-rump length and congenital malformations were evaluated. Results There were 406 and 25 fetuses without or with congenital malformations, respectively. Two sonographers showed satisfactory inter- and intra-observer agreements and reproducibility. The maxillary gap was only observed in 7.6% of normal fetuses, whereas all cleft lip and palate fetuses had a maxillary gap ≥ 0.8 mm. The crown-rump length was negatively correlated with frontomaxillary facial angle, inferior facial angle, and profile line distance but positively correlated with maxilla-nasion-mandible angle, facial maxillary angle, frontal space distance, and palatine maxillary diameter. These measurements showed various significant changes with different congenital malformations. Conclusions Measurements of fetal facial profile in early pregnancy were feasible with satisfactory reproducibility. These measurements correlated with crown-rump length and showed significant differences with certain fetal congenital malformations.

Objective To evaluate the diagnostic performance and inter-observer agreement of the American College of Radiology Ovarian-Adnexal Reporting and Data System Ultrasound (O-RADS) in the diagnosis of ovarian masses in children. Methods From June 2012 to December 2021, 163 ovarian masses in 159 patients with pathologic results were retrospectively analyzed. Each mass was classified into an O-RADS category according to the criteria. The diagnostic performance of O-RADS for detecting malignant ovarian masses was assessed using histopathology as the reference standard. Kappa ( k ) statistic was used to assess inter-observer agreement between a less-experienced and a well-experienced radiologist. Results Out of 163 ovarian masses, 18 (11.0%) were malignant and 145 (89.0%) were benign. The malignancy rates of O-RADS 5, O-RADS 4, and O-RADS 3 masses were 72.7%, 34.6%, and 4.8%, respectively. The area under the receiver operating characteristic curve was 0.944 (95% CI, 0.908–0.981). The optimal cutoff value for predicting malignant ovarian masses was > O-RADS 3 with a sensitivity, specificity, and accuracy of 94.4%, 86.2% and 86.2% respectively. The inter-observer agreement of the O-RADS category was good ( k = 0.777). Conclusions O-RADS has a high diagnostic performance for children with ovarian masses. It provides an effective malignant risk classification for ovarian masses in children, which shows high consistency between radiologists with different levels of experience.

We present the case of a 10-month-old girl with spontaneously ruptured cystic nephroma with a 1-week-old abdominal mass and a 1-day history of marked abdominal distension. The tumor presented as gourd-shaped, cystic solid mass in the right kidney with fluid collection. The tumor was successfully removed by urgent surgery. The girl remained in good condition throughout six-month follow-up after.

Objective:To compare the prenatal ultrasound (US) and magnetic resonance imaging (MRI) characteristics of Joubert syndrome (JS) to enrich the knowledge on JS and improve its diagnosis.Methods:The prenatal US and MRI characteristics of 14 cases of JS at Guangdong Women and Children Hospital from January 2014 to January 2022 were retrospectively analyzed.Results:Among the 14 cases of JS fetuses, systematic US examination and MRI examination were performed 17 times and 16 times, respectively. A total of 8 cases (57%, 8/14) were diagnosed with JS by both US and MRI, while 6 cases (43%, 6/14) had inconsistent diagnosis results. Among all the 17 ultrasound and 16 MRI examinations, US suggested a diagnosis of JS 7 times (41%, 7/17) and a suspicious diagnosis of JS 4 times (23%, 4/17) while MRI suggested a diagnosis of JS 13 times (81%, 13/16). Regarding the image characteristics of US and MRI, consistent typical molar tooth sign was suggested in 7 cases (50%, 7/14), while inconsistent results were suggested in 7 cases (50%, 7/14); consistent little or no cerebellar vermis was suggested in 10 cases (71%, 10/14), while inconsistent results were suggested in 4 cases (29%, 4/14); consistent aspect ratio of the fourth ventricle >1 was suggested in 12 cases (86%, 12/14), while inconsistent results were suggested in 2 cases (14%, 2/14); consistent closely adjacent cerebellar hemispheres were suggested in 8 cases (57%, 8/14), consistent distinctly separated cerebellar hemispheres were suggested in 2 cases (14%, 2/14), and inconsistent results were suggested in 4 cases (29%, 2/14). Among the 17 ultrasound and 16 MRI examinations, the sign of "midline fissure" was showed 3 times (18%, 3/17) and 13 times (81%, 13/16) by ultrasound and MRI, respectively. Hyperechoic region of the cerebellar hemisphere was shown by US in 12 cases (86%, 12/14), while hyperechoic region was misdiagnosed as vermis in 2 cases (17%, 2/12).Conclusion:Accurate recognition of the prenatal imaging characteristics and pitfalls of JS is helpful to improve the prenatal detection rate of JS.

Objective:To explore the incidence and type of chromosomal abnormalities in fetuses with isolated aberrant right subclavian artery (ARSA) and provide evidences for the prenatal management and clinical consultation.Methods:A total of 103 fetuses who were diagnosed as isolated ARSA from January 2015 to December 2020 were selected from the Department of Ultrasound of Guangdong Maternal and Child Health Hospital. All fetuses were screened for Down's syndrome during the first trimester, and grade Ⅲ prenatal ultrasound, fetal echocardiography, and chromosome examination during the second and third trimester. The age of pregnant women was (31.1±5.30) years old.Results:There were 9 cases of chromosome abnormalities (8.7%) in all fetuses with isolated ARSA, including 2 cases of trisomy 21, 2 cases of Turner syndrome, 3 cases of unknown copy number variation (CNV), 1 case of 17p12 deletion, and 1 case of 47XYY. Neither trisomy 18 nor 22q11 microdeletion cases were found.Conclusions:Isolated ARSA may be the only prenatal predictor of trisomy 21 and other chromosome abnormalities. Prenatal ultrasonography of ARSA has certain clinical value.

Objective:To investigate the ultrasonic characteristics and pregnancy outcomes of fetal umbilical artery occlusion.Methods:A total of 13 cases of fetal umbilical artery occlusion firstly found in Guangdong Maternal and Child Health Care Hospital or referred from other hospitals from January 2016 to December 2021 were analyzed retrospectively. The pregnant women were 19-38 (28.08±6.25) years old. The prenatal ultrasound characteristics were analyzed. The fetal outcomes were followed up.Results:⑴ Eleven cases were found in late pregnancy, and 2 cases in mid-pregnancy. Two umbilical arteries were found during pregnancy and one umbilical artery was found in the later stage. ⑵ Five cases were found that the fetal meridians were less than gestational weeks, 1 case had abnormal fetal structure, 1 case had racket-shaped Placenta, 1 case had umbilical cord wrapped around neck 2 times, 1 case had saccular distension of umbilical vein in abdomen, 1 case had decreased fetal heart rate, and the other 3 cases had no abnormality. ⑶ Six pregnant women chose timely termination of pregnancy or Cesarean section within 2 days. ⑷ Eleven fetuses survived, and 2 did not.Conclusions:Fetal umbilical artery occlusion has obvious ultrasonic features. Only the time of delivery of umbilical artery occlusion is determined by the complications of premature delivery and the fetus conditions.

A dilated lateral ventricle is a relatively common finding on prenatal ultrasound, and the causes are complex. We aimed to explore the etiology of a fetus with a dilated lateral ventricle. Trio whole-exome sequencing was performed to detect causative variants. A de novo variant of TAOK1 (NM_020791.2: c.227A>G) was detected in the proband and evaluated for potential functional impacts using a variety of prediction tools. Droplet digital polymerase chain reaction was used to exclude the parental mosaicism and to verify the phasing of the de novo variant. Based on peripheral blood analysis, the parents did not exhibit mosaicism at this site, and the de novo variant was paternally derived. Here, we describe a fetus with a de novo likely pathogenic variant of TAOK1 who had a dilated lateral ventricle and a series of particular phenotypes. This case expands the clinical spectrum of TAOK1-associated disorders. We propose a method for solving genetic disorders in which the responsible genes have not yet gone through ClinGen curation, particularly for prenatal cases.

目的 探讨超声妇科影像报告与数据系统(GI-RADS)分类法在小儿卵巢肿块良恶性鉴别中的应用价值.方法 回顾性分析经手术和病理证实的58例患儿的59个卵巢肿块的超声图像,并进行GI-RADS分类.采用Kappa系数分析不同年资医师分类结果的一致性.以病理结果为金标准,绘制受试者工作特征曲线(ROC)计算GI-RADS对恶性肿块的诊断效能.结果 不同年资医师应用GI-RADS对肿块分类的一致性好(Kappa=0.715,P＜0.001).GI-RADS诊断恶性肿瘤的曲线下面积(AUC)为0.959,灵敏度为100％、特异度为83.4％、阳性预测值为57.9％、阴性预测值为100％.结论 超声GVRADS分类法在小儿卵巢肿块的良恶性鉴别中有较高的诊断价值,且不同年资医师分类一致性好,值得推广应用.

The ultrasound (US) screening of the infant hip is vital for the early diagnosis of developmental dysplasia of the hip (DDH). The US diagnosis of DDH refers to measuring alpha and beta angles that quantify hip joint development. These two angles are calculated from key anatomical landmarks and structures of the hip. However, this measurement process is not trivial for sonographers and usually requires a thorough understanding of complex anatomical structures. In this study, we propose a multi-task framework to learn the relationships among landmarks and structures jointly and automatically evaluate DDH. Our multi-task networks are equipped with three novel modules. Firstly, we adopt Mask R-CNN as the basic framework to detect and segment key anatomical structures and add one landmark detection branch to form a new multi-task framework. Secondly, we propose a novel shape similarity loss to refine the incomplete anatomical structure prediction robustly and accurately. Thirdly, we further incorporate the landmark-structure consistent prior to ensure the consistency of the bony rim estimated from the segmented structure and the detected landmark. In our experiments, 1231 US images of the infant hip from 632 patients are collected, of which 247 images from 126 patients are tested. The average errors in alpha and beta angles are 2.221 degrees and 2.899 degrees. About 93% and 85% estimates of alpha and beta angles have errors less than 5 degrees, respectively. Experimental results demonstrate that the proposed method can accurately and robustly realize the automatic evaluation of DDH, showing great potential for clinical application.

Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing. Prenatal MRI diagnosed 10 cases as JS with a typical molar tooth sign (MTS), while prenatal ultrasound diagnosed or suspiciously diagnosed 11 cases as JS with typical or mild MTS in 10 cases. Mutations in JS-related genes and other prenatal JS imaging phenotypes were identified in 10 cases, including OFD1 in two cases [cerebellar vermis (CV) absence, posterior fossa dilation, ventriculomegaly, polydactyly, malformations of cortical development (MCD), and persistent left superior vena cava], TMEM67 in two cases (CV absence, polydactyly, hyperechoic kidneys or polycystic kidneys, posterior fossa dilation, and ventriculomegaly), CC2D2A in two cases (CV absence, polydactyly, MCD, agenesis of the corpus callosum, encephalocele and hydrocephalus, ventriculomegaly, and posterior fossa dilation), RPGRIP1L in one case (CV absence), TCTN3 in one case (CV absence, polydactyly, MCD, and posterior fossa dilation), CEP290 in one case (CV absence and polycystic kidney), and NPHP1 in one case (CV absence). The prenatal diagnosis of JS presents a number of challenges, including the variants of unknown significance, the lack of functional assessment in prenatal imaging, unclear phenotype-genotype relationships in prenatal evaluation, and the incorrect identification of the JS hallmark, the MTS, in prenatal imaging, especially on ultrasound. Although combined MRI, ultrasound, and exome sequencing could help improve the prenatal diagnosis of JS, there still exist significant challenges.

患者女，44岁，阴道间断出血1月余。孕3产2。查体：宫颈后唇正常形态消失，触之出血，宫颈管及阴道后穹隆见白色黏液。宫颈液基薄层细胞学检查(thin-prep cytology test，TCT)：阴性。MRI检查：宫颈多发纳氏囊肿、宫颈内膜增生伴炎性改变可能。超声检查显示：宫颈形态失常，宫颈与阴道前、后穹隆存在分界，宫颈内口显示不清，宫颈内见囊实性回声团，大小84 mm×63 mm，边缘尚清，实性部分呈稍高回声，囊性部分大小不等，形态不规则。彩色多普勒血流成像示：包块边缘及内部可测及少许短棒状彩色血流信号，阻力指数0.56(图1)。患者后行手术，术后病理：宫颈及颈管内见大小不等腺体成分，浸润性生长，腺细胞有异型，间质炎细胞浸润(图2)，符合宫颈胃型腺癌(gastric type adenocarcinoma of the uterine cervix，GAS)，侵及宫颈基质全层，累及宫颈管及子宫体下段。免疫组化：ER(-)，PR(-)，p16(局灶+)，CK7(+)，CK20(-)，CDX-2(-)，Pax-8(+)，p53(散在+)，CEA(-)，MUC-6(部分+)，Ki-67(60%+)。特殊染色：AB-PAS(部分+)。本研究经医院伦理委员会审批通过(广东省妇幼保健院医伦第[202201107]号)。

Fetal mediastinal teratomas represent only 10% of congenital teratomas in children and 2.6% of all mediastinal masses in children. Teratomas have multifactorial etiology, such as chromosomal abnormalities. Fetal mediastinal teratomas are rare. Mediastinal teratomas can cause hydrops fetalis, fetal demise, and neonatal respiratory distress; therefore, accurate perinatal management and interventions are very important. We describe a case of fetal mediastinal teratoma wherein the cystic fluid in the fetal tumor was aspirated and confirmed by surgical pathology after birth at the authors' center. The teratoma in this case was characterized by a large single cystic mass with clear borders in the anterosuperior mediastinum, which grew rapidly and was closely related to the thymus. The infant was healthy at birth, and the tumor was surgically removed the age of 1 year. The postoperative course was uneventful, and the patient was in good health 6 years postoperatively. This case and literature review suggests that ultrasound examination can accurately diagnose fetal mediastinal teratomas, which is beneficial to provide an accurate basis for fetal prenatal intervention and treatment. Additionally, an important ultrasound feature of a fetal unicystic mediastinal teratoma is a saddle‐shaped mass with clear boundaries, which provided an accurate reference for the diagnosis of a fetal cystic mediastinal teratoma by prenatal ultrasonography.