Objective:To investigate genetic findings and pregnancy outcomes in fetuses with omphalocele.Methods:This retrospective study analyzed data from 502 fetuses with prenatally diagnosed omphalocele who underwent genetic testing at Guangzhou Women and Children's Medical Center and Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2014 and March 2024. Testing methods included karyotyping, chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification, and whole-exome sequencing (WES). Cases were categorized as non-isolated ( n=340) or isolated ( n=162) based on ultrasound findings. Differences in genetic abnormality detection rates and pregnancy outcomes were analyzed using Mann-Whitney U test, independent samples t-test, and Chi-square test (or Fisher's exact test). Results:Among 502 fetuses, karyotyping plus CMA detected chromosomal abnormalities in 223 cases (44.4%, 223/502), including trisomy 18 (57.0%, 127/223) and trisomy 13 (23.3%, 52/223). CMA additionally identified nine pathogenic copy number variations (1.8%, 9/502) and five uniparental disomies (1.0%, 5/502), increasing the total diagnostic yield from 44.4% to 47.2%. The genetic abnormality rate was significantly lower in isolated (14.8%, 24/162) versus non-isolated omphalocele (64.7%, 220/340) ( χ2=109.34, P<0.001). WES detected variants in nine of 16 karyotype/CMA-negative cases, including five pathogenic variants involving PIK3CA and CDKN1C. Eight imprinting disorders (1.6%, 8/502) were identified, including five Beckwith-Wiedemann syndrome cases. Among 499 cases with follow-up, 401 (80.4%, 401/499) underwent pregnancy termination. Live birth rate was higher in isolated versus non-isolated groups [42.5% (69/162) vs. 8.5% (29/340), χ2=77.67, P<0.001]. Three cases were lost to follow-up. The one-year survival rate was 93.9% (92/98) in live-born infants. Conclusion:Aneuploidy (particularly trisomy 18) is the primary genetic etiology of omphalocele. CMA and WES significantly improve diagnostic yield. Isolated omphalocele has a more favorable prognosis, while non-isolated cases show significantly higher genetic abnormality rates. A stratified testing strategy is recommended: karyotyping plus CMA for isolated cases and prioritization of WES for multiple anomalies.

Objective:To investigate genetic findings and pregnancy outcomes in fetuses with omphalocele.Methods:This retrospective study analyzed data from 502 fetuses with prenatally diagnosed omphalocele who underwent genetic testing at Guangzhou Women and Children's Medical Center and Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2014 and March 2024. Testing methods included karyotyping, chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification, and whole-exome sequencing (WES). Cases were categorized as non-isolated ( n=340) or isolated ( n=162) based on ultrasound findings. Differences in genetic abnormality detection rates and pregnancy outcomes were analyzed using Mann-Whitney U test, independent samples t-test, and Chi-square test (or Fisher's exact test). Results:Among 502 fetuses, karyotyping plus CMA detected chromosomal abnormalities in 223 cases (44.4%, 223/502), including trisomy 18 (57.0%, 127/223) and trisomy 13 (23.3%, 52/223). CMA additionally identified nine pathogenic copy number variations (1.8%, 9/502) and five uniparental disomies (1.0%, 5/502), increasing the total diagnostic yield from 44.4% to 47.2%. The genetic abnormality rate was significantly lower in isolated (14.8%, 24/162) versus non-isolated omphalocele (64.7%, 220/340) ( χ2=109.34, P<0.001). WES detected variants in nine of 16 karyotype/CMA-negative cases, including five pathogenic variants involving PIK3CA and CDKN1C. Eight imprinting disorders (1.6%, 8/502) were identified, including five Beckwith-Wiedemann syndrome cases. Among 499 cases with follow-up, 401 (80.4%, 401/499) underwent pregnancy termination. Live birth rate was higher in isolated versus non-isolated groups [42.5% (69/162) vs. 8.5% (29/340), χ2=77.67, P<0.001]. Three cases were lost to follow-up. The one-year survival rate was 93.9% (92/98) in live-born infants. Conclusion:Aneuploidy (particularly trisomy 18) is the primary genetic etiology of omphalocele. CMA and WES significantly improve diagnostic yield. Isolated omphalocele has a more favorable prognosis, while non-isolated cases show significantly higher genetic abnormality rates. A stratified testing strategy is recommended: karyotyping plus CMA for isolated cases and prioritization of WES for multiple anomalies.

Fertility preservation technology provides an effective method of protecting fertility resources for young patients with malignant tumors, allowing them to offspring after their fertility is impaired. However, the development of this technology has caused many social and ethical controversies. From the perspective of ethics, this paper discussed the ethical issues faced by young female patients in the implementation of fertility preservation, including whether it is necessary to preserve fertility, the ownership of the preserved fertility resources and the fair and equitable distribution of health resources involved in its implementation process, and identifies these issues and controversies from ethical view. In order to eliminate public doubts and misunderstandings about the technology of fertility preservation, ethical principles of benefit and non-harm, informed consent, prudent application, and ethical supervision have to be followed in the process of providing fertility preservation services, so as to promote the further development and application of fertility preservation technology.

Objective To explore the effect of using heat sensitive moxibustion combined with ear acupoint pressing intervention on patients with cervical spondylotic radiculopathy(CSR)root pain,in order to guide the formulation of clinical intervention measures and promote clinical benefits for patients.Methods A total of 120 patients with CSR root pain admitted to Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine from September 2022 to September 2023 were prospectively selected.They were randomly divided into control group and observation group,with 60 patients in each group.The control group received routine intervention combined with ear acupoint pressure,while the observation group received heat sensitive moxibustion intervention for one month.Compare the pain level,neck mobility,quality of life,and nursing satisfaction between two groups.Results After intervention,the visual analogue scale scores of both groups were lower than before intervention,and observation group was lower than control group(P＜0.05);After intervention,both groups showed an increase in neck mobility,and observation group had a higher range of motion(P＜0.05);After intervention,36-item short form in both groups improved,and observation group had a higher score(P＜0.05);The nursing satisfaction of observation group was higher than that of control group(P＜0.05).Conclusion The use of heat sensitive moxibustion combined with ear acupoint pressure,can alleviate pain,improve neck mobility,improve quality of life,and increase patient's satisfaction with nursing care in patient's with CSR root pain.

Objective:To investigate the value of ultrasonography in diagnosis of transposition of great arteries of the fetus at 11-13 + 6 weeks gestation. Methods:A prospective study was conducted on fetuses screened by ultrasound in the first trimester in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and March 2022. Fetal heart structure was screened by three-section screening method. Fetuses with suspected transposition of the great arteries at 11-13 + 6 weeks gestation underwent followed-up ultrasound examination, chromosome and gene test results. The ultrasound characteristics and prognosis pregnancy outcomes were summarized. Results:Twenty-one cases of transposition of the great arteries were detected by ultrasonography, including complete transposition of great arteries (20 cases) and congenitaly corrected transposition of the great arteries (1 case). Two cases were miss diagnosed. Twenty-one cases showed parallel signs of two major arteries on grayscale outflow section at 11-13 + 6 weeks gestation. There were 6 cases with aneuploid ultrasonographic soft markers abnormality, 2 cases with extracardiac malformation. Chromosome and microarray analysis were performed in 13 cases. 4 cases with chromosomal abnormality. Four cases of chromosomal abnormalities were associated with ultrasonographic soft markers abnormality, and 1 case with extracardiac malformation.In the 23 cases, 20 cases were induced, 1 miscarried, and 2 delivered to term. Among the fetuses delivered at term, 1 case died before neonatal operation and 1 case survived. Conclusions:Standardized ultrasound scan at 11-13 + 6 weeks has high accuracy in diagnosis of transposition of the great arteries. And the incidence of chromosomal abnormality is high with ultrasonographic soft markers abnormality or extracardiac malformation.

Fertility preservation technology provides an effective method of protecting fertility resources for young patients with malignant tumors, allowing them to offspring after their fertility is impaired. However, the development of this technology has caused many social and ethical controversies. From the perspective of ethics, this paper discussed the ethical issues faced by young female patients in the implementation of fertility preservation, including whether it is necessary to preserve fertility, the ownership of the preserved fertility resources and the fair and equitable distribution of health resources involved in its implementation process, and identifies these issues and controversies from ethical view. In order to eliminate public doubts and misunderstandings about the technology of fertility preservation, ethical principles of benefit and non-harm, informed consent, prudent application, and ethical supervision have to be followed in the process of providing fertility preservation services, so as to promote the further development and application of fertility preservation technology.

Objective:To investigate the value of atrioventricular valve regurgitation in predicting atrioventricular septal defect (AVSD) in the first trimester.Methods:Fetuses were examined prospectively by ultrasound at 11-13 + 6 weeks in Maternity & Child Healthcare Hospital of Guangxi Zhuang Autonomous Region between February 2016 and February 2021. Congenital heart disease was screened and atrioventricular valve regurgitation was observed in fetuses of gestational age 11 to 13 + 6 weeks using color Doppler in four-chamber view and three vessels and trachea view. Results:Totally 43 549 fetuses of gestational age 11 to 13 + 6 weeks were screened by echocardiography, of whom 37 cases were screened out with AVSD, including complete atrioventricular septal defect (31 cases), partial atrioventricular septal defect(3 cases) and intermediate atrioventricular septal defect(1 cases), 2 cases were misdiagnosed, and ultrasonic scanning in the second trimester found 2 missed cases of intermediate atrioventricular septal defect. Atrioventricular valve regurgitation was observed in 91.89% of atrioventricular septal defects (34/37) in the first trimester, 59.46% (22/37) nuchal translucency greater than 95th percentile, 29.73% (11/37) absence of nasal bone, 32.43% (12/37) ductus venosus A wave inversion, and 40.54% (15/37) had tricuspid regurgitation. The sensitivity of common atrioventricular valve regurgitation in predicting atrioventricular septal defect is better than other ultrasonic indexes. Conclusions:Atrioventricular regurgitation can be used as a clue to predict atrioventricular septal defect in the first trimester, which is beneficial to detect atrioventricular septal defect in the first trimester.

Objective: To explore the safety and efficacy of totally laparoscopic right posterior liver resection for hepatocellular carcinoma (HCC). Methods: The clinical data of 16 HCC patients undergoing laparoscopic right posterior liver resection at the First People′s Hospital of Foshan between Apr 2014 and Sep 2018 was retrospectively analyzed. Results: 14 out of the 16 cases, underwent totally laparoscopic right posterior liver resection by right hepatic Glisson pedicle transection, 2 were converted to open surgery.The operation time was (378±65) min, blood loss was (500±287) ml. There was no transfusion except for 2 cases. The median hospital stay after operation was 8 days . There was no mortality . With the median follow up period of 22 months (range 1 to 54 months). Tumor recurrence was found in one case. Conclusion Laparoscopic Glisson′s pedicle transection for right posterior liver resection for hepatocellular carcinoma was safe and effective.

Objective To compare the safety and efficacy of laparoscopic and open left hepatectomy for hepatocellular carcinoma (HCC).Methods Clinical data of 31 patients with HCC who underwent left hepatectomy in the First People's Hospital of Foshan from June 2011 to December 2017 were retrospectively analyzed.Among 31 patients,24 cases were male and 7 female,aged from 11 to 78 years with a median age of 58 years.Patients were divided into laparoscopic left hepatectomy group (laparoscopic group,n=17) and open left hepatectomy group (open group,n=14).The informed consents of all patients were obtained and the local ethical committee approval was received.In laparoscopic group,two-step Endo-GIA laparoscopic left hepatectomy was performed,and conventional hepatectomy was performed in open group.The postoperative length of hospital stay was compared by t test.The intraoperative blood loss was compared by rank-sum test.The incidence of postoperative complications was compared by Chisquare test.Results All patients underwent operation successfully without perioperative death.The median intraoperative blood loss in laparoscopic group was 100(50-500) ml,significantly less than 325(50-900) ml in open group (Z=-2.180,P＜0.05).The postoperative length of hospital stay in laparoscopic group was (8.4±2.3) d,significantly shorter than (10.9±2.5) d in the open group (t=-2.869,P＜0.05).5 cases developed postoperative pleural effusion in laparoscopic group,and 5 in open group,where no significant difference was observed (x2=0.140,P＞0.05).Conclusions Laparoscopic left hepatectomy is safe for HCC and has similar efficacy as open surgery,the intraoperative blood loss is less comparatively and postoperative recovery time is shorter,which can serve as a standard surgical approach in clinical practice.

Objective To study the feasibility and safety of laparoscopic hepatic caudate lobe resec tion.Methods The clinical data of seven patients who underwent laparoscopic hepatic caudate lobe resection in our hospital were retrospective analyzed.There were 3 male and 4 female patients.The mean age was 45.3 years.The primary diseases included hepatic haemangioma (n =2),metastatic liver cancer (n =2),hepatocellular carcinoma (n =1),recurrent hepatocellular carcinoma (n =1) and hepatic adenoma (n =1).The total blood loss,operation time,hospital stay after surgery and complication were analyzed.Results The surgery was successful in all these 7 patients and no patients required any conversion to open surgery.Five patients underwent partial caudate lobe resection,and the remaining 2 underwent combined left hemi hepatectomy with partial caudate lobe resection.The operation time ranged from 200 to 250 minutes with a mean of 235 minutes.The intraoperative blood loss ranged from 40 to 600 ml with a mean of 188 ml.There was no postoperative bleeding and bile leakage.The resections were all R0 resections.Conclusions Laparoscopic hepatic caudate lobe resection was safe and feasible in appropriate patients.Familiarity with anatomy of the liver caudate lobe and skilled laparoscopic techniques are important to carry out this surgery.