OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.
Pregnancy ; Female ; Humans ; Mosaicism ; Ring Chromosomes ; Vena Cava, Superior ; Chromosome Aberrations ; Prenatal Diagnosis ; Microarray Analysis ; Fetus/diagnostic imaging*

OBJECTIVE: To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11). METHODS: A pregnant woman who had visited the Birth Health Clinic of Lianyungang Maternal and Child Health Care Hospital on May 22, 2021 was selected as the study subject. Clinical data of the woman was collected. Peripheral blood samples of the woman and her husband and umbilical cord blood of the fetus were collected and subjected to conventional G-banded chromosomal karyotyping analysis. Fetal DNA was also extracted from amniotic fluid sample and subjected to chromosomal microarray analysis (CMA). RESULTS: For the pregnant women, ultrasonography at 25th gestational week had revealed permanent left superior vena cava and mild mitral and tricuspid regurgitation. G-banded karyotyping analysis showed that the pter-q11 segment of the fetal Y chromosome was connected to the Xq26 of the X chromosome, suggesting a Xq-Yq reciprocal translocation. No obvious chromosomal abnormality was found in the pregnant woman and her husband. The CMA results showed that there was approximately 21 Mb loss of heterozygosity at the end of the long arm of the fetal X chromosome [arr [hg19] Xq26.3q28(133912218_154941869)×1], and 42 Mb duplication at the end of the long arm of the Y chromosome [arr [hg19] Yq11.221qter(17405918_59032809)×1]. Combined with the search results of DGV, OMIM, DECIPHER, ClinGen and PubMed databases, and based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the deletion of arr[hg19] Xq26.3q28(133912218_154941869)×1 region was rated as pathogenic, and the duplication of arr[hg19] Yq11.221qter(17405918_59032809)×1 region was rated as variant of uncertain significance. CONCLUSION The Xq-Yq reciprocal translocation probably underlay the ultrasonographic anomalies in this fetus, and may lead to premature ovarian insufficiency and developmental delay after birth. Combined G-banded karyotyping analysis and CMA can determine the type and origin of fetal chromosomal structural abnormalities as well as distinguish balanced and unbalanced translocations, which has important reference value for the ongoing pregnancy.
Humans ; Child ; Pregnancy ; Female ; Vena Cava, Superior ; In Situ Hybridization, Fluorescence ; Chromosome Aberrations ; Karyotyping ; Translocation, Genetic ; Fetus ; Prenatal Diagnosis/methods*

INTRODUCTION: Umbilical cord milking (UCM) is a method that allows for postnatal placental transfusion. The benefits of UCM have been demonstrated in some studies, but knowledge about its haemodynamic effects in term infants is limited. The aim of this study was to evaluate the haemodynamic effects of UCM in term infants. METHODS: In this prospective, randomised controlled study, 149 healthy term infants with a birth week of ≥37 weeks were randomly assigned to either the UCM or immediate cord clamping (ICC) group. Blinded echocardiographic evaluations were performed in all the neonates in the first 2-6 h. RESULTS: Superior vena cava (SVC) flow measurements were higher in the UCM group compared to the ICC group (132.47 ± 37.0 vs. 126.62 ± 34.3 mL/kg/min), but this difference was not statistically significant. Left atrial diameter (12.23 ± 1.99 vs. 11.43 ± 1.78 mm) and left atrium-to-aorta diastolic diameter ratio (1.62 ± 0.24 vs. 1.51 ± 0.22) were significantly higher in the UCM group. There were no significant differences in other echocardiographic parameters between the two groups. CONCLUSION We found no significant difference in the SVC flow measurements in term infants who underwent UCM versus those who underwent ICC. This lack of significant difference in SVC flow may be explained by the mature cerebral autoregulation mechanism in term neonates.
Infant, Newborn ; Infant ; Humans ; Pregnancy ; Female ; Infant, Premature/physiology* ; Umbilical Cord Clamping ; Prospective Studies ; Vena Cava, Superior/diagnostic imaging* ; Placenta ; Umbilical Cord/physiology* ; Constriction ; Hemodynamics/physiology*

Objective: For patients with paroxysmal atrial fibrillation, superior vena cava isolation on the basis of pulmonary vein isolation may further improve the long-term success rate of radiofrequency ablation. We aimed to explore the efficacy and safety of superior vena cava isolation by high-power and short-duration (HPSD) ablation plus conventional radiofrequency ablation (RA) in patients with paroxysmal atrial fibrillation. Methods: It was a prospective randomized controlled study. From January 1, 2019 to June 1, 2020, 180 patients who underwent radiofrequency ablation for paroxysmal atrial fibrillation in our center were consecutively screened. Patients were eligible if there was a trigger potential and the muscle sleeve length was greater than 3 cm. A total of 60 eligible patients were finally included and randomly divided into HPSD group (HPSD plus RA) and common power and duration (CPD) group (CPD plus RA) by random number table method (n=30 in each group). Efficacy was evaluated by ablation points, isolation time and ablation time. Safety was evaluated by the incidence of POP, cardiac tamponade, phrenic nerve injury, sinoatrial node injury and all-cause. Results: Superior vena cava isolation was achieved by 14 (13, 15) points in the HPSD group, which was significantly less than that in the CPD group (20(18, 22), P<0.001). The superior vena cava isolation time was 8 (7, 9) minutes in the HPSD group, which was significantly shorter than in the CPD group (17(14, 20) minutes, P<0.001). The average ablation time significantly shorter in HPSD group than in CPD group (78.0(71.1, 80.0) s vs. 200(167.5, 212.5)s, P<0.001). The average impedance drop was more significant in the HPSD group than in the CPD group (20.00(18.75, 21.00)Ω (and the percentage of impedance drop was 15%) vs. 12.00(11.75, 13.25)Ω (the percentage of impedance decrease was 12%), P<0.001). There was 1 POP (3.3%) in the HPSD group, and 3 POPs (10.0%) in the CPD group (P>0.05). There was no cardiac tamponade, phrenic nerve injury, sinoatrial node injury and death in both groups. Conclusions: HPSD technique for the isolation of superior vena cava is safe and effective in patients with paroxysmal atrial fibrillation undergoing conventional radiofrequency ablation.
Humans ; Atrial Fibrillation/surgery* ; Vena Cava, Superior/surgery* ; Prospective Studies ; Treatment Outcome ; Radiofrequency Ablation

Humans ; Mediastinal Neoplasms/therapy* ; Superior Vena Cava Syndrome/therapy* ; Vena Cava, Superior/surgery*

Objective: To summarize the clinical features, management and outcome of superior vena cava syndrome (SVCS) associated with mediastinal malignancy in children. Methods: Clinical data of 42 children of SVSC associated with mediastinal malignancy in Shanghai Children's Medical Center from January 2015 to December 2021 were collected and analyzed retrospectively. The clinical manifestations, pathological diagnosis, disease diagnosis process, and prognosis were summarized. Results: Among 42 children of SVCS associated with mediastinal malignancy, there were 31 males and 11 females. The age at diagnosis was 8.5 (1.9, 14.9) years. Cough and wheezing (33 cases, 79%), orthopnea (19 cases, 45%) and facial edema (18 cases, 43%) occurred most commonly. T-cell lymphoblastic lymphoma (T-LBL) was the most frequent pathological diagnosis (25 cases, 60%), followed by T-cell acute lymphoblastic leukemia (T-ALL) (7 cases, 17%), anaplastic large cell lymphoma (4 cases, 10%) and diffuse large B-cell lymphoma (2 cases, 5%), peripheral T-lymphoma, Hodgkin lymphoma, Ewing's sarcoma and germ cell tumor (1 case each). Pathological diagnosis was confirmed by bone marrow aspiration or thoracentesis in 14 cases, peripheral lymph node biopsy in 6 cases, and mediastinal biopsy in 22 cases. Twenty-seven cases (64%) had local anesthesia. Respiratory complications due to mediastinal mass developed in 3 of 15 cases who received general anesthesia. Of the 42 cases, 27 cases had sustained remission, 1 case survived with second-line therapy after recurrence, and 14 cases died (2 cases died of perioperative complications and 12 cases died of recurrence or progression of primary disease). The follow-up time was 36.7 (1.2, 76.1) months for 27 cases in continuous complete remission. The 3-year overall survival (OS) and events free survival (EFS) rates of 42 children were 59% (95%CI 44%-79%) and 58% (95%CI 44%-77%) respectively. Conclusions: SVCS associated with mediastinal malignancy in children is a life-threatening tumor emergency with high mortality. The most common primary disease is T-LBL. The most common clinical symptoms and signs are cough, wheezing, orthopnea and facial edema. Clinical management should be based on the premise of stable critical condition and confirm the pathological diagnosis through minimal invasive operation.
Child ; China ; Cough ; Edema ; Female ; Humans ; Male ; Mediastinal Neoplasms/diagnosis* ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; Respiratory Sounds ; Retrospective Studies ; Superior Vena Cava Syndrome/therapy*

OBJECTIVE: To summarize the surgical experience of totally implantable venous access port in children with malignant tumors, and to explore the coping methods of surgical complications. METHODS: The clinical data of 165 children with malignant tumors implanted in totally implantable venous access port in Department of Pediatric Surgery, Peking University First Hospital from January 2017 to December 2019 were retrospectively analyzed. The operation process, complications and treatment of complications were observed and counted. RESULTS: The children in this group were divided into external ju-gular vein incision group (n=27) and internal jugular vein puncture group (n=138) according to different surgical methods, and the latter was divided into ultrasound guided puncture group (n=95) and blind puncture group (n=43). No puncture complications occurred in the external jugular vein incision group, and the average time for successful catheterization and the number of times for catheter to enter the superior vena cava were more than those in the internal jugular vein puncture group [(9.26±1.85) min vs. (5.76±1.56) min, (1.93±0.87) times vs. 1 time], with statistical significance. The average time of successful catheterization, the success rate of one puncture, the average number of punctures and the incidence of puncture complications in the ultrasound guided right internal jugular vein puncture group were better than those in the blind puncture group [(5.36±1.12) min vs. (6.67±1.99) min, 93.68% (89/95) vs. 74.42% (32/43), (1.06±0.24) times vs. (1.29±0.55) times, 2.11% (2/95) vs. 11.63% (5/43)], with statistically significant differences. The total incidence of complications in this study was 12.12% (20/165). Pneumothorax occurred in 1 case, artery puncture by mistake in 1 case, local hematoma in 5 cases, venous access port related infection in 4 cases (venous access port local infection in 2 cases, catheter related blood flow infection in 2 cases), subcutaneous tissue thinning on the surface of port seat in 2 cases, port seat overturning in 1 case, poor transfusion in 4 cases (catheter discount in 1 case, catheter blockage in 3 cases), and foreign bodies gathered around the subcutaneous pipeline in 2 cases. There were no complications, such as catheter rupture, detachment and catheter clamping syndrome. CONCLUSION Totally implantable venous access port can provide safe and effective infusion channels for children with malignant tumors. Right external jugular vein incision and ultrasound-guided right internal jugular vein puncture are reliable surgical methods for children's totally implantable venous access port implantation. Surgeons should fully understand the complications of the venous access port, take measures to reduce the occurrence of complications, and properly handle the complications that have occurred.
Humans ; Child ; Catheterization, Central Venous/methods* ; Retrospective Studies ; Vena Cava, Superior ; Jugular Veins/surgery* ; Neoplasms/surgery*

Atrial Fibrillation/surgery* ; Cardiac Tamponade/surgery* ; Catheter Ablation/adverse effects* ; Humans ; Radiofrequency Ablation ; Treatment Outcome ; Vena Cava, Superior/surgery*

Consensus ; Humans ; Mediastinal Neoplasms/therapy* ; Superior Vena Cava Syndrome/therapy* ; Vena Cava, Superior

Objective: To evaluate the effectiveness and safety of Pul-Stent as the treatment of postoperative branch pulmonary artery stenosis in children with congenital heart disease. Methods: This was a retrospective study. Thirty-three patients who underwent Pul-Stent implantation in Shanghai Children's Medical Center due to postoperative residual pulmonary artery stenosis from August 2014 to June 2015 were included. The immediate curative effect, follow-up and complications of Pul-Stent implantation were assessed. Comparisons between groups were performed with unpaired Student t test. Results: Pul-Stent implantation of 33 patients (19 males and 14 females) were performed successfully. Thirty-one patients underwent percutaneous stenting, and 2 patients underwent hybrid stenting. A total of 35 Pul-Stents were implanted (19 of model small, 15 of model medium and one of model large), 23 stents were planted in the proximal left pulmonary artery and 12 stents were in the proximal right pulmonary artery. The initial diameter of dilation balloon ranged from 6 to 16 mm, and the long sheath of percutaneous implantation ranged from 8 to 10 F in 29 patients (29/31, 94%). After stenting, the diameter of the narrowest segment of pulmonary artery increased from (4.0±1.7) mm to (9.1±2.1) mm in all patients (t=-21.60, P<0.001). The pressure gradient at the stenosis in 26 patients after biventricular correction decreased from (30.5±12.3) mmHg (1 mmHg=0.133 kPa) to (9.9±9.6) mmHg (t=12.92, P<0.001), and the right ventricular to aortic pressure ratio decreased from 0.57±0.14 to 0.44±0.12 (t=7.44, P<0.001). The pressure of the superior vena cava after stenting in 5 patients after cavopulmonary anastomosis decreased from (17.0±1.9) mmHg to (14.0±0.7) mmHg (t=2.86, P=0.046). Two patients died during reoperation for repairing other cardiac malformations. The remaining 31 patients were clinically stable during the follow-up period of (5.3±1.6) years, and one stent fracture was found on chest X-ray. Cardiac catheterization reexaminations in 16 patients showed that restenosis was found in one stent, while stent position and patency were satisfactory in the remaining stents. Nine children underwent post-dilation without stent fracture, displacement or aneurysm formation. Cardiac tomography showed no stent stenosis, fracture observed, or significant change in diameter of the stent in 8 patients. The inner diameter and pulmonary blood perfusion could not be accurately evaluated due to artifacts by cardiac magnetic resonance imaging in 4 patients. Conclusions: Pul-Stent has good compliance and adequate radial strength, and can dilate further over time to accommodate for somatic growth. It performs safely and effectively in treating post-operative branch pulmonary artery stenosis in children.
Child ; China ; Female ; Follow-Up Studies ; Heart Defects, Congenital/surgery* ; Humans ; Male ; Pulmonary Artery/surgery* ; Retrospective Studies ; Stenosis, Pulmonary Artery/surgery* ; Stents ; Treatment Outcome ; Vena Cava, Superior