1.Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review
Xinni SHU ; Jiexia YANG ; Yousheng WANG ; Zhuangping ZHANG ; Fangfang GUO ; Haishan PENG ; Dongmei WANG ; Yaping HOU
Chinese Journal of Medical Genetics 2025;42(7):855-861
Objective:To assess the impact of vanishing twin syndrome (VTS) on the accuracy of non-invasive prenatal testing (NIPT).Methods:Three pregnant women who underwent NIPT testing at Guangdong Women and Children′s from November 2019 to February 2020 were selected as the study subjects. The three women had either vanish twin syndrome or had undergone fetal reduction for other reasons in one of their twins, and were subsequently subject to NIPT, chromosome karyotyping, chromosome microarray analysis (CMA), and short tandem repeat (STR) analysis. This study has been approved by the Medical Ethics Committee of Guangdong Maternal and Child Health Hospital (Ethic No.: 20230132).Results:Case 1 underwent selective fetal reduction at 8 + weeks of gestation. At 17 + weeks, NIPT showed a fetal DNA fraction of 2.806%, with results indicating the presence of Y chromosome and abnormal sex chromosome ratios. However, the women had subsequent uncomplicated vaginal delivery of a female infant, and no abnormality noted. Case 2 experienced spontaneous demise of one twin at 13 weeks′ gestation. At 19 weeks, NIPT indicated a high risk for chromosome 21 ( Z-score 4.671) in the surviving fetus, but subsequent evaluation showed no abnormality. Case 3, a dichorionic diamniotic (DCDA) twin pregnancy, underwent selective reduction at 13 + weeks due to fetal abnormalities in one twin. At 22 + weeks, NIPT for the surviving fetus indicated a high risk for chromosome 21 (Z-score 17.549), but subsequent evaluation was unremarkable. Conclusion:In twin pregnancies, the relatively low cell-free fetal DNA (cffDNA) concentration can compromise the success rate and accuracy of NIPT compared to singleton pregnancies. Residual DNA from the demised fetus may persist for weeks following VTS or selective reduction, potentially causing false-positive NIPT results and interfering with sex chromosome prediction for the surviving fetus. Additionally, determining chorionicity is critical for reliable interpretation of NIPT results in twin pregnancies.
2.Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review.
Xinni SHU ; Jiexia YANG ; Yousheng WANG ; Zhuanping ZHANG ; Fangfang GUO ; Haishan PENG ; Dongmei WANG ; Yaping HOU
Chinese Journal of Medical Genetics 2025;42(7):855-861
OBJECTIVE:
To assess the impact of vanishing twin syndrome (VTS) on the accuracy of non-invasive prenatal testing (NIPT).
METHODS:
Three pregnant women who underwent NIPT testing at Guangdong Women and Children's from November 2019 to February 2020 were selected as the study subjects. The three women had either vanish twin syndrome or had undergone fetal reduction for other reasons in one of their twins, and were subsequently subject to NIPT, chromosome karyotyping, chromosome microarray analysis (CMA), and short tandem repeat (STR) analysis. This study has been approved by the Medical Ethics Committee of Guangdong Maternal and Child Health Hospital (Ethics No.: 20230132).
RESULTS:
Case 1 underwent selective fetal reduction at 8+ weeks of gestation. At 17+ weeks, NIPT showed a fetal DNA fraction of 2.806%, with results indicating the presence of Y chromosome and abnormal sex chromosome ratios. However, the women had subsequent uncomplicated vaginal delivery of a female infant, and no abnormality noted. Case 2 experienced spontaneous demise of one twin at 13 weeks' gestation. At 19 weeks, NIPT indicated a high risk for chromosome 21 (Z-score 4.671) in the surviving fetus, but subsequent evaluation showed no abnormality. Case 3, a dichorionic diamniotic (DCDA) twin pregnancy, underwent selective reduction at 13+ weeks due to fetal abnormalities in one twin. At 22+ weeks, NIPT for the surviving fetus indicated a high risk for chromosome 21 (Z-score 17.549), but subsequent evaluation was unremarkable.
CONCLUSION
In twin pregnancies, the relatively low cell-free fetal DNA (cffDNA) concentration can compromise the success rate and accuracy of NIPT compared to singleton pregnancies. Residual DNA from the demised fetus may persist for weeks following VTS or selective reduction, potentially causing false-positive NIPT results and interfering with sex chromosome prediction for the surviving fetus. Additionally, determining chorionicity is critical for reliable interpretation of NIPT results in twin pregnancies.
Adult
;
Female
;
Humans
;
Pregnancy
;
Diseases in Twins/diagnosis*
;
Karyotyping
;
Noninvasive Prenatal Testing/methods*
;
Pregnancy, Twin
;
Prenatal Diagnosis/methods*
3.Research on the application of the RadCalc automated validation system in the validation of planning dose of the Monaco treatment planning system
Dongmei HOU ; Qiuhang ZHANG ; Jiankun XU
China Medical Equipment 2025;22(2):20-25
Objective:To explore the feasibility of RadCalc automatic planning validation system in the Monaco treatment plan system.Methods:The RadCalc automatic validation system was debugged,and the imaging data of 107 patients with tumors on head(29 cases),breast(28 cases),lung(28 cases)and abdomen(22 cases)who received radiotherapy at Xuanwu Hospital of Capital Medical University from 2021 to 2023 were screened.The dose γ passing rates were tested for all patients.The RadCalc automatic validation system was used to validate the dose γ passing rate under the 3%/2 mm and 3%/3 mm criteria of the radiotherapy plan,and the measured results were compared with those from ArcCHECK and MatriXX phantom.Results:The dose γ passing rates of all debugged test field were more than 97%.In the dose test of clinical plan of 107 patients,the mean value of all dose γ passing rate was larger than 96%under the 3%/2mm criteria,and that was larger than 98%under the 3%2 mm.There were significant differences in the dose γ passing rates under 3%2 mm and 3%3mm criteria of head plan,and under 3%3 mm criteria of breast plan between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system,and the differences were statistically significant(t=8.02,7.79,3.32,P<0.05).There were no significant differences in the γ-passing rate under 3%/2 mm and 3%/3 mm criteria of breast plan and abdomen plan between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system(P>0.05).In volumetric intensity modulated arc therapy(VMAT)plan,there were significant differences in dose γ passing rate under 3%/2 mm and 3%/3 mm criteria between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system(t=4.61,5.16,P<0.05),while there were not statistical significance in these indicators between them in intensity modulated radiation therapy IMRT plans(P>0.05).Conclusion:The measured results of the RadCalc automatic validation system has favorable consistency with the measured results of ArcCHECK and MatriXX phantom.The RadCalc automatic validation system can be used in dose validation of clinical plan.
4.Research on the application of the RadCalc automated validation system in the validation of planning dose of the Monaco treatment planning system
Dongmei HOU ; Qiuhang ZHANG ; Jiankun XU
China Medical Equipment 2025;22(2):20-25
Objective:To explore the feasibility of RadCalc automatic planning validation system in the Monaco treatment plan system.Methods:The RadCalc automatic validation system was debugged,and the imaging data of 107 patients with tumors on head(29 cases),breast(28 cases),lung(28 cases)and abdomen(22 cases)who received radiotherapy at Xuanwu Hospital of Capital Medical University from 2021 to 2023 were screened.The dose γ passing rates were tested for all patients.The RadCalc automatic validation system was used to validate the dose γ passing rate under the 3%/2 mm and 3%/3 mm criteria of the radiotherapy plan,and the measured results were compared with those from ArcCHECK and MatriXX phantom.Results:The dose γ passing rates of all debugged test field were more than 97%.In the dose test of clinical plan of 107 patients,the mean value of all dose γ passing rate was larger than 96%under the 3%/2mm criteria,and that was larger than 98%under the 3%2 mm.There were significant differences in the dose γ passing rates under 3%2 mm and 3%3mm criteria of head plan,and under 3%3 mm criteria of breast plan between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system,and the differences were statistically significant(t=8.02,7.79,3.32,P<0.05).There were no significant differences in the γ-passing rate under 3%/2 mm and 3%/3 mm criteria of breast plan and abdomen plan between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system(P>0.05).In volumetric intensity modulated arc therapy(VMAT)plan,there were significant differences in dose γ passing rate under 3%/2 mm and 3%/3 mm criteria between patients and ArcCHECK phantom who were measured by RadCalc automatic validation system(t=4.61,5.16,P<0.05),while there were not statistical significance in these indicators between them in intensity modulated radiation therapy IMRT plans(P>0.05).Conclusion:The measured results of the RadCalc automatic validation system has favorable consistency with the measured results of ArcCHECK and MatriXX phantom.The RadCalc automatic validation system can be used in dose validation of clinical plan.
5.Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review
Xinni SHU ; Jiexia YANG ; Yousheng WANG ; Zhuangping ZHANG ; Fangfang GUO ; Haishan PENG ; Dongmei WANG ; Yaping HOU
Chinese Journal of Medical Genetics 2025;42(7):855-861
Objective:To assess the impact of vanishing twin syndrome (VTS) on the accuracy of non-invasive prenatal testing (NIPT).Methods:Three pregnant women who underwent NIPT testing at Guangdong Women and Children′s from November 2019 to February 2020 were selected as the study subjects. The three women had either vanish twin syndrome or had undergone fetal reduction for other reasons in one of their twins, and were subsequently subject to NIPT, chromosome karyotyping, chromosome microarray analysis (CMA), and short tandem repeat (STR) analysis. This study has been approved by the Medical Ethics Committee of Guangdong Maternal and Child Health Hospital (Ethic No.: 20230132).Results:Case 1 underwent selective fetal reduction at 8 + weeks of gestation. At 17 + weeks, NIPT showed a fetal DNA fraction of 2.806%, with results indicating the presence of Y chromosome and abnormal sex chromosome ratios. However, the women had subsequent uncomplicated vaginal delivery of a female infant, and no abnormality noted. Case 2 experienced spontaneous demise of one twin at 13 weeks′ gestation. At 19 weeks, NIPT indicated a high risk for chromosome 21 ( Z-score 4.671) in the surviving fetus, but subsequent evaluation showed no abnormality. Case 3, a dichorionic diamniotic (DCDA) twin pregnancy, underwent selective reduction at 13 + weeks due to fetal abnormalities in one twin. At 22 + weeks, NIPT for the surviving fetus indicated a high risk for chromosome 21 (Z-score 17.549), but subsequent evaluation was unremarkable. Conclusion:In twin pregnancies, the relatively low cell-free fetal DNA (cffDNA) concentration can compromise the success rate and accuracy of NIPT compared to singleton pregnancies. Residual DNA from the demised fetus may persist for weeks following VTS or selective reduction, potentially causing false-positive NIPT results and interfering with sex chromosome prediction for the surviving fetus. Additionally, determining chorionicity is critical for reliable interpretation of NIPT results in twin pregnancies.
6.Stains:recent research progress for endometriosis
Xian QIN ; Qian WANG ; Jia HOU ; Dongmei XU
Chinese Journal of Clinical Pharmacology and Therapeutics 2024;29(5):488-494
Defined as a common gynecologic en-docrine disease,endometriosis is characterized by the presence of endometrium outside of the uterus cavity,affecting about 10%to 15%of reproductive-aged women worldwide.Moreover,Asian women tend to have a nine-fold increased risk of endome-triosis compared with their white counterparts in Europe and the United States.Endometriosis not only causes chronic pelvic pain,dysmenorrhea,painful sex and other pain symptoms,but also leads to infertility,pushing the patients into a state of fatigue,high sensitivity and anxiety,thus reduc-ing their quality of life.As the aging of Chinese pop-ulation intensifies and the women's childbearing age delays,it is highly urgent to find solutions to those gynecological endocrine diseases such as en-dometriosis,which hamper women's fertility.In re-cent years,studies have shown that patients with endometriosis have abnormal serum lipid metabo-lism and an increased risk of cardiovascular diseas-es.At the same time,as a type of cholesterol-lower-ing drug,statins can inhibit the progression of en-dometriosis at the cellular and animal levels.Also,a few clinical studies have exhibited that statins ex-ert a positive effect on the treatment of endometri-osis.Therefore,this article aims to review the re-searches regarding the relationship between endo-metriosis and the cardiovascular disease,as well as the research progress of statin therapy on endome-triosis based on the level of cells,animals and hu-man beings.
7.Tripartite motif-containing protein 59 inhibits inflammation and lung injury by regulating HIF-1α-mediated lactic acid secretion and IL-10 expression in macrophages
Yinan WANG ; Hui HUANG ; Xinyu CHAI ; Qiong WU ; Yuxi WANG ; Yuyang HOU ; Dongmei YAN
Chinese Journal of Microbiology and Immunology 2024;44(3):205-211
Objective:To investigate the effect of tripartite motif-containing protein 59 (TRIM59) on glucose metabolism in macrophages and its role in regulating hypoxia-inducible factor-1α (HIF-1α)/IL-10 axis in macrophages under inflammatory conditions.Methods:The differentially expressed genes between macrophages with high expression of TRIM59 and control cells transfected with empty TRIM59 plasmid were analyzed by GO and KEGG. The expression of HIF-1α by RAW264.7 macrophages with high expression of TRIM59 was detected at different time points after lipopolysaccharide (LPS) stimulation by RT-qPCR and Western blot. Bone marrow was isolated from TRIM59-cKO and TRIM59 flox/flox mice and induced to differentiate into bone marrow-derived macrophages (BMDMs). These BMDMs were stimulated with LPS and the supernatants of cell culture were collected at 3, 6, 12 and 24 h after stimulation to detect IL-10 level by ELISA. In addition, mouse models of cecal ligation and puncture (CLP) were established, and bronchoalveolar lavage fluid (BALF) samples were collected at the same time points to detect IL-10 level by ELISA. Histopathological changes in lung tissues were observed after HE staining. Results:There was a significant change in glucose metabolism-related genes in macrophages with high expression of TRIM59, and the content of lactic acid increased significantly. Compared with the control group, the expression of HIF-1α at mRNA level in BMDMs from TRIM59-cKO mice decreased after LPS stimulation ( P<0.05); the level of IL-10 increased at 3 h and 24 h in the TRIM59-cKO group, but there was no significant difference in IL-10 level at 6 h or 12 h between the two groups. In the TRIM59-cKO mouse model of CLP, the levels of IL-10 in the BALF samples increased with time, but decreased at 24 h. The level of IL-10 was higher in the TRIM59-cKO mouse model group than that in the control group at each time point ( P<0.05 or P<0.01). Conclusions:TRIM59 can inhibit inflammation and lung injury by decreasing HIF-1α-mediated lactate secretion and IL-10 expression in macrophages. This study provides a new idea for developing novel anti-sepsis drugs based on TRIM59.
8.Study on UPLC fingerprint of Mume flos at different flowering stages based on chemometrics analysis
Shuang HUANG ; Yueyi LIANG ; Jie YANG ; Weisheng LYU ; Xiaoying LU ; Guangming HE ; Zhipeng CHEN ; Xuxuan HOU ; Tianrui XIA ; Zhenyu LI ; Congyou DENG ; Xiangdong CHEN ; Dongmei SUN
International Journal of Traditional Chinese Medicine 2024;46(7):898-904
Objective:To establish the ultra high performance liquid chromatography (UPLC) fingerprints of Mume flos at different flowering stages; To provide reference for the quality research of Mume flos.Methods:The fingerprints of Mume flos were established by UPLC method, and the common peaks were identified by high performance liquid chromatography high resolution mass spectrometry (LC-MS). Chemometrics analysis was carried out with the fingerprints' common peak area of plum blossom at different flowering stages as a variable. Semiquantitative analysis of changes in flavonoids and phenolic acids in Mume flos at different flowering stages was conduct using peak area calculation method.Results:Totally 31 common peaks were identified in the fingerprints of plum blossom medicinal materials at different flowering stages and 9 components were identified. Clustering analysis (HCA) and principal component analysis (PCA) both classified plum blossom medicinal herbs at different flowering stages into three categories. Among them, there were significant differences between the groups at the bud stage, blooming period, and final flowering period, while the differences between the groups at blooming period and final flowering period were relatively small. The orthogonal partial least squares discriminant analysis (OPLS-DA) screened 16 different components with VIP>1.0. The contents of phenolic acids in different flowering stages were as follows: bud stage>blooming period>final flowering period, while the contents of flavonoids were as follows: blooming period>final flowering period>bud stage.Conclusions:This method is simple and reliable, and can provide reference for the quality evaluation of plum blossom medicinal materials at different flowering stages.
9.Diagnosis and treatment methods of nontuberculous mycobacteria infections related to cosmetic surgery
Jingdong GUO ; Bo CHEN ; Liang PENG ; Dongmei ZHANG ; Haixin HOU ; Wantong LI ; Xiongxiang ZHU
Chinese Journal of Burns 2024;40(7):673-678
Objective:To investigate diagnosis and treatment methods of nontuberculous mycobacteria (NTM) infections related to cosmetic surgery.Methods:This study was a retrospective observational study. From January 2015 to December 2023, 24 patients with NTM infections related to cosmetic surgery meeting the inclusion criteria were admitted to Shenzhen Hospital of Southern Medical University and Northern Theater Command General Hospital, all of whom were female and aged 29-51 years. Among them, 20 cases underwent lipolysis needle injection surgery, 2 cases underwent facial contouring surgery, 1 case underwent foreign body injection, and 1 case underwent wrinkle removal surgery. The clinical manifestations of infections caused by NTM included scattered dark purplish subcutaneous nodules at the infection site with unclear boundaries, thinning of the skin on the surface of the nodules and ulceration, and powdery-white fish meat like tissue and a small amount of light yellow exudation being seen at the ulceration. In order to improve the detection rate of NTM, bacterial culture of wound exudation combined with solid tissue samples, multiple bacterial cultures, and extending culture time were performed. All patients were treated with damage control debridement on the infected site and comprehensive treatment including the use of antibiotics based on the results of drug sensitivity tests. The types of NTM infections, drug sensitivity test results, wound healing time, number of bacterial cultures, and surgical debridement times were recorded. The wound healing was observed during follow-up.Results:The bacterial culture results showed that there were 22 cases of infections with Mycobacterium abscessus and 2 cases with Mycobacterium fortuitum. The drug sensitivity test results showed that the NTM was sensitive to antibiotics such as clarithromycin, amikacin, and doxycycline. The average healing time of the wound was 83.6 days with an average of 2.85 times bacterial cultures on the specimen, and an average of 2.52 times of debridement surgery. Follow up for 6 months to 5 years, all wounds of the patients were healed. Among them, 22 patients had a basically normal appearance with slight scars, while 2 patients had obvious scars and depressions. Conclusions:It is difficult to treat NTM infections related to cosmetic surgery. Damage control debridement for the infected site can ensure wound healing and reduce the damage and postoperative deformities in facial and other cosmetic areas.
10.Asssessment of fetal cardiac geometry and systolic function in fetuses with ventricular septal defect during second trimester using fetal heart quantification technology
Li HOU ; Lixue YIN ; Dongmei ZHANG ; Liuying ZHOU ; Chunrong LI ; Shiyue PENG
Chinese Journal of Ultrasonography 2024;33(6):497-504
Objective:To evaluate the morphological and functional changes of the heart during second trimester fetuses with ventricular septal defect (VSD) using fetal heart quantification (fetal HQ) technology.Methods:A prospective study was conducted from July 2022 to January 2024 at Chengdu Women′s and Children′s Central Hospital, collecting 91 singleton fetuses diagnosed with isolated VSD (VSD group) and 91 normal fetuses matched for gestational age (control group). Fetal HQ technology was used to measure the length and width of the four-chamber view of the fetal heart, obtaining the global sphericity index (GSI). Speckle tracking technology was used to track the endocardial motion trajectories of the left and right ventricles during diastole and systole, obtaining parameters such as left and right ventricular global longitudinal strain (LV-GLS and RV-GLS), end-diastolic diameter (EDD), 24-segment sphericity index (SI), 24-segment fraction of shortening (FS), left ventricular ejection fraction (LV-EF), fraction of area change (FAC), left ventricular stroke volume (LV-SV), and left ventricular cardiac output (LV-CO).The differences between groups were compared, and the correlations between the values of VSD and GSI, GLS, and FAC were evaluated.Results:The EDD of the left ventricular segments 20-23 in the VSD group was lower, while the SI value of the right ventricular segments 1-4 in the VSD group was higher than that in the control group (all P<0.05). There was no statistically significant difference in GSI between the two groups ( P>0.05). LV-GLS in the VSD group was lower than that in the control group ( P<0.05). There was no statistically significant difference in RV-GLS ( P>0.05). Values of LV-FAC, LV-EF, LV-SV, and LV-CO in the VSD group were significantly lower than those in the control group (all P<0.05). The FS value of left ventricular segments 1-10 in the VSD group presented lower, but the FS value of right ventricular segments 7-21 higher compared to controls(all P<0.05). LV-GLS and LV-FAC absolute values were negatively correlated with the size of VSD ( r=-0.309, P=0.004; r=-0.264, P=0.015), while GSI, RV-GLS, and RV-FAC showed no significant correlation with the size of VSD (all P>0.05). Conclusions:The overall sphericity index of second trimester VSD fetuses is normal, but there are changes in the shape of the left ventricular apical segments and the right ventricular basal segments, with the left heart chamber tending to be flatter and the right heart chamber more fusiform. The left ventricular systolic function of VSD fetuses is significantly reduced, the local systolic function of right ventricular increases while the global systolic function shows no significant change. The absolute values of LV-GLS and LV-FAC in VSD fetuses are negatively correlated with the size of VSD.

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