BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years.
METHODS: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.
CONCLUSIONS: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.

Background: Accurate prenatal diagnosis of cleft lip and palate is essential to discuss severity prediction, perform appropriate parental counseling, and, at last, establish long-term treatment planning. The aim of this systematic review was to analyze the accuracy of various imaging techniques for the prenatal diagnosis of cleft lip and palate, assess the pregnancy phase for orofacial clefts diagnosis, and study the different cleft types in terms of diagnostic methods, timing, and predictability. Methods: A search of the PubMed, EMBASE, Scopus, and Web of Science databases was conducted to identify potentially relevant studies published until January 2024. The quality of the selected articles was assessed using the Newcastle-Ottawa scale for methodological quality assessment of cohort studies and the QUADAS-2 scale for diagnostic test studies. Results: A total of 18 studies met the eligibility criteria and were included in the review. The findings of this review indicate that the majority of studies showed improved diagnostic accuracy when supplementary techniques, such as 3D ultrasound or magnetic resonance imaging, were added to 2D ultrasound. Conclusions: The implementation of magnetic resonance imaging as a standard procedure could significantly improve the precision of diagnosing cleft lip and palate. Therefore, the diagnostic technique used will play a crucial role in the accuracy of the diagnosis.

The Twin Reversed Arterial Perfusion (TRAP) Sequence is an extremely rare complication of monochorionic twin pregnancies, with one severely malformed twin (the \"acardiac\") lacking autonomous placental blood supply and being perfused by the co-twin (the \"pump\"), through arterio-arterial (and sometimes also veno-venous) vascular anastomoses located on the placental surface. The prognosis is poor: mortality is 100% in the acardiac twin because of its severe malformations and about 50-55% in the pump twin, mainly due to heart failure and prematurity. So, the goal of perinatal management of the TRAP twin pregnancy is to deliver a healthy and near-term pump twin without heart failure or fetal hydrops. Intuitively, the earlier the diagnosis, the better the outcome. Herein, we report two cases of monochorionic monoamniotic (MCMA) twin pregnancies complicated by the TRAP Sequence, which are of interest since the objective of early diagnosis was achieved by means of transvaginal and 3D ultrasound, two techniques which revealed themselves as being useful to this purpose but are underused in the literature. The second aim of this study is to provide an overview of literature data about the diagnosis, prognosis establishment, and management of this rare condition, which are still debated and unclear due to negligible poor-quality evidence.

Endometrial cancer is a common malignancy affecting women worldwide. Usually, it clinically manifests with uterine bleeding, although identical clinical manifestations occur in benign conditions as well, with several endometrial biopsies being conducted unnecessarily. Therefore, an accurate, non-invasive diagnostic test is needed for first-line assessment, so as unnecessary biopsies are limited as much as possible. This systematic review aims to assess the diagnostic accuracy of three-dimensional ultrasound, a relatively novel method in gynecologic assessment, compared to two-dimensional ultrasound and three-dimensional Doppler in the prediction of uterine malignancy in women with abnormal uterine bleeding. The accuracy of endometrial volume, as a diagnostic parameter assessed by three-dimensional ultrasound is compared to diagnostic parameters from the other two methods, namely endometrial thickness and 3D Doppler indices (vascularization index, flow index and vascularization flow index). Articles relevant to our research question were systematically sought in the Web of Science, Scopus and MEDLINE/PubMed databases and underwent rigorous evaluation for inclusion according to the PRISMA 2020 guidelines. Eligible studies were thoroughly assessed for risk of bias and relevant data was extracted and analyzed. Studies were heterogenous and extracted data varied from study to study. Data on endometrial volume was compared to other diagnostic parameters. Forest plots with pooled percentages and hierarchical summary receiver operating characteristic curves were constructed for each comparison. Relative sensitivity and specificity ratios were calculated for each comparison to test for statistical significance. Endometrial volume and thickness comparison showed sensitivity 83% for both parameters and specificity 75% and 69% respectively, with volume being more specific than thickness (p < 0.05). Endometrial volume and Doppler indices comparison showed that sensitivity was 73%, 82%, 81% and 82%, while specificity was 72%, 76%, 75% and 76% for endometrial volume, vascularization index, flow index and vascularization-flow index respectively. All three Doppler indices were significantly more sensitive in the diagnosis of malignancy compared to endometrial volume (p < 0.05) While endometrial thickness remains a reliable predictor of uterine malignancy, endometrial volume appears promising as a method with higher specificity and more reliable measurements. Similarly, vascular indices seem as competent and even more sensitive than endometrial volume as predictors, with the added advantage of semi-automated and reproducible measurements that reflect the whole organ. More comparative studies with standardized protocols should be established, so as reliable cut-off values can be determined and thus standardize and streamline the diagnostic algorithm via the implementation of the three-dimensional modalities in the settings that they are available.

BACKGROUND: Developmental dysplasia of hip (DDH) represents a spectrum from acetabular dysplasia to fixed dislocation, giving disability through premature osteoarthritis. Most DDH cases continue to present without any known risk factors such as breech presentation, female sex, and family history. Incidence and population-based outcomes of DDH are difficult to reliably establish due to many DDH definitions and classifications using different types of examinations.
OBJECTIVE: This review takes a historical perspective on the role of imaging in DDH.
METHODS: Pelvic radiographs (X-Ray) were amongst the first medical images identifying DDH, but these have a limited role in infancy due to absent ossification. In the 1980s, ultrasound led to a large expansion in infant DDH screening. Unfortunately, even for well-trained users, DDH indices on ultrasound generally lack reproducibility, and have led to overdiagnosis of mild DDH. CT and MRI more thoroughly evaluate the 3D hip deformity in DDH, but are costly, less available and involve radiation dose and/or anaesthesia.
RESULTS: Recently 3D ultrasound has been used to characterize the 3D deformity of DDH more fully, with improved inter-observer reliability, particularly amongst novice users. 3D ultrasound is also well suited to automated image analysis, but high-resolution 3D probes are costly and not widely available.
CONCLUSIONS: Combining the latest handheld portable ultrasound probes and artificial intelligence analysis could lead to an inexpensive tool permitting practical mass population screening for DDH. Overall, our understanding of DDH is heavily influenced by the imaging tools used to visualize it and changing quickly with modern technology.

Osseous metaplasia of the endometrium is a rare condition characterized by abnormal bone formation in the uterine endometrium. The osseous fragments act like a foreign body in the uterine cavity; thus, infertility, menstrual abnormalities, pelvic pain dysmenorrhea, and dyspareunia are commonly associated. We present a case series of four women with osseous metaplasia of the endometrium with different symptomatology. Two-dimensional endovaginal examination played a primary role in the diagnosis, the characteristic ultrasound pattern being hyperechoic linear or irregular areas within the endometrium casting posterior acoustic shadowing. Three-dimensional ultrasound better demonstrated the irregular appearance and clearly differentiated the oseous metaplasia from an intrauterine device.

暂无摘要。

The terms \"cornual,\" \"interstitial,\" and \"angular\" pregnancies are used inconsistently in the literature. Some sources use \"interstitial\" and \"cornual\" synonymously, while others reserve \"cornual\" for gestations in bicornuate or septate uteri; others distinguish interstitial from angular pregnancy, while in practice, many physicians are unfamiliar with the latter designation. This article aims to clarify the terms and review the literature with respect to diagnosis and prognosis, with attention to the potential roles of 3D ultrasound and magnetic resonance imaging.