Relationship between diagnosis of conus arteriosus malformation and genetic diagnosis results in fetal cardiac axis abnormalities by echocardiography during middle pregnancy.

Objective: To explore the clinical value of echocardiography in detecting fetal cardiac axis abnormalities during middle pregnancy for diagnosing conus arteriosus malformation, and to compare and analyze the genetic diagnosis results, in order to provide evidence for clinical diagnosis and intervention. Methods: Four hundred twenty-one fetuses with conus arteriosus malformation from January 2020 to October 2023 were included as the conus arteriosus malformation group, and 917 healthy fetuses (all single fetuses) matched at the same gestational age were selected as the healthy group. Results: There was no significant difference in gestational weeks between two groups (P > 0.05). The age of pregnant women in conus arteriosus malformation group was lower compared to healthy group (P < 0.05), and the fetal cardiac axis in conus arteriosus malformation group was significantly higher compared to healthy group (P < 0.05). Among the fetuses with conus arteriosus malformation, tetralogy of Fallot (TOF), transposition of the great arteries (TGA) and double outlet right ventricle (DORV) had the highest proportions, accounting for 38.00%, 18.29% and 17.58%, respectively. Among all types of conus arteriosus malformations, atresia pulmonary valve syndrome associated with TOF, persistent truncus arteriosus and DORV exhibited higher proportions of fetal cardiac axis abnormalities, at 75.00%, 36.84% and 27.03%, respectively, while TGA and interrupted aortic arch associated with B-type interruption had lower proportions of fetal cardiac axis abnormalities, at 2.60% and 4.55%, respectively. Genetic testing was conducted on 73 cases (17.34%) of fetuses with conus arteriosus malformation in this study. Among them, fetal cardiac axis abnormalities were considered positive for genetic results due to factors such as aneuploidy, copy number abnormalities, and single-gene pathogenicity. A total of 31 cases tested positive for genetic anomalies, with a positive rate of approximately 42.47%. Conclusion: In the middle pregnancy, the fetal cardiac axis in cases of conus arteriosus malformation was significantly higher than in normal fetuses. Moreover, there were variations in fetal cardiac axis among different types of conus arteriosus malformations, and these differences were notably associated with genetic diagnostic results.

The Sonographic Features of Malformation in Fetal Echogenic Bowel and Its Relationship With Chromosome Abnormalities.

ABSTRACT: The aims of this study were to analyze the sonographic features and clinical prognosis of fetal echogenic bowel (FEB) and to evaluate the value of FEB in the prediction of fetal chromosomal abnormalities. Eight hundred eighty-two fetuses with FEB were selected. The ultrasonographic features and the chromosomal examination were retrospectively analyzed. Among the 882 FEB, 272 (30.8%) cases had malformation. The most common malformation was cardiovascular malformation (21.6%), followed by urinary malformation (9.0%), craniocerebral malformation (6.8%), and gastrointestinal malformations (5.6%). According to other combined ultrasound abnormalities, the FEBs were divided into 4 groups: isolated FEB group (490 cases), ultrasound soft indicators group (130 cases), single malformation group (117 cases), and multiple malformation group (145 cases). A total of 45 cases (5.1%) were detected with chromosomal abnormalities. Compared with isolated FEB group, the rate of chromosomal abnormality in other 3 groups was significantly higher. Among 490 cases of isolated FEB, 114 cases of isolated FEB group with adverse pregnancy outcomes were selected as the experimental group, and 376 cases of FEB group with good prognosis were selected as the control group. There were significant differences of the location, shape, intensity, and progression between the 2 groups. Multivariate logistic regression analysis showed that central location and progression of FEB were independent risk predictors of poor prognosis. The combined malformation rate is high for FEB fetuses. The fetal systems should be carefully examined when FEB is found in prenatal ultrasound.

Evaluation of ultrasonography in fetal intestinal malrotation with midgut volvulus.

OBJECTIVES: To investigate the clinical significance of prenatal diagnosis and prognostic evaluation of fetal intestinal malrotation with midgut volvulus via ultrasonography. MATERIAL AND METHODS: Ultrasonographic findings and clinical outcomes of fetal intestinal malrotation with midgut volvulus prenatally diagnosed via ultrasound at the Zhangzhou Hospital Affiliated of Fujian Medical University from January 2013 to May 2020 were summarised and analyzed. RESULTS: Eleven cases of fetal intestinal malrotation with midgut volvulus were accurately prenatally diagnosed according to the specific ultrasound signs, such as 'whirlpool sign' and 'twining sign'. Indirect and nonspecific ultrasonographic signs included ascites in four cases and echogenic bowel in nine, all of which were accompanied by intestinal dilatation at various degrees. Among all cases, two were complicated with other system abnormalities, and one had a chromosome abnormality. Three pregnant women chose termination of pregnancy, and eight neonates were transferred to the pediatric department for surgery after obtaining written informed consent. An accurate prenatal diagnosis was confirmed postoperatively, and the fetus recovered well postoperatively. CONCLUSION: S: : Fetal intestinal malrotation with midgut volvulus has typical sonographic features, and ultrasonography is the method of choice for prenatal diagnosis of this disease. Fetal intestinal malrotation with midgut volvulus is a non-fatal congenital malformation that can be treated. Prenatal diagnosis is essential for early postnatal treatment, and early surgery can often obtain good efficacy and prognosis.

Diagnostic Efficiency of Gynecologic Imaging Reporting and Data System Combined With 3-dimensional Contrast-enhanced Ultrasound Scoring System in Evaluating Ovarian Tumor.

To estimate the value of gynecologic imaging reporting and data system (GI-RADS) combined with 3-dimensional contrast-enhanced ultrasound (3D-CEUS) scoring system in the differential diagnosis of ovarian tumor. Both of 2-dimensional ultrasound (2D-US) and 3D-CEUS were performed on 114 patients with ovarian masses by Voluson E8 with SonoVue (Bracco, Italy). Besides, dynamic contrast-enhanced-magnetic resonance imaging (DCE-MRI) (Siemens Magneton Verio 3.0T, Germany) was performed on the patients. There were totally 62 benign and 52 malignant ovarian tumors in all patients. The ability of GI-RADS combined with 3D-CEUS scoring system to distinguish benign and malignant ovarian tumors was superior to conventional ultrasound GI-RADS classification. The sensitivity, specificity, and accuracy of GI-RADS combined with 3D-CEUS scoring system were 96.2% and 98.1%, 87.10%, whereas those of MRI were 87.10%, 91.23%, and 92.11% respectively, indicating that there was high concordance in ovarian tumors assessment between the 2 diagnostic methods. The new scoring system has a good correlation with microvessel density (P = 0.000, r = 0.73), estrogen receptor (P = 0.000, r = 0.59), progesterone receptor (P = 0.000, r = 0.56), and matrix metalloproteinase-9 (P = 0.000, r = 0.61). The GI-RADS combined with 3D-CEUS scoring system was valuable in clinical diagnosis and differential diagnosis of ovarian tumor and show good agreement with MRI.

A bacterial polysaccharide biosynthesis-related gene inversely regulates larval settlement and metamorphosis of Mytilus coruscus.

Larval settlement and metamorphosis is essential for the development of marine invertebrates. Although polysaccharides are involved in larval settlement and metamorphosis of Mytilus coruscus, the molecular basis of polysaccharides underlying this progression remains largely unknown. Here, the roles of the polysaccharide biosynthesis-related gene 01912 of Pseudoalteromonas marina ECSMB14103 in the regulation of larval settlement and metamorphosis were examined by gene-knockout technique. Compared with biofilms (BFs) of the wild-type P. marina, Δ01912 BFs with a higher colanic acid (CA) content showed a higher inducing activity on larval settlement and metamorphosis. Deletion of the 01912 gene caused an increase in c-di-GMP levels, accompanied by a decrease in the motility, an increase in cell aggregation, and overproduction of CA. Thus, the bacterial polysaccharide biosynthesis-related gene 01912 may regulate mussel settlement by producing CA via the coordination of c-di-GMP. This work provides a deeper insight into the molecular mechanism of polysaccharides in modulating mussel settlement.