1.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*
2.Effect analysis of combined Tiaojingzhuyun mixture and regulating menstration and promoting pregnancy by thirteen acupuncture in treating infertility caused by Follicle dysplasia
Xi CHEN ; Xinni WANG ; Yuan QI ; Shuxiang HU ; Jin LI
The Journal of Practical Medicine 2024;40(3):412-416
Objective To explore the clinical effects of Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture in the treatment of Declining Ovarian Function(DOR)combined with follicular dysplasia infertility.Methods From January 1,2022 to January 1,2023,60 cases of infertility patients with DOR follicular dysplasia were treated in our hospital,and the above cases were randomly divided into experimental group:Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group;Control group:Clomiphene group,30 cases each.The improvement of FSH,maximum follicle size and ovulation,uterine artery blood flow index,endometrial thickness and pregnancy were observed after treatment.Results The improvement of follicle stimulating hormone,maximum follicle size,endometrial thickness and uterine artery blood flow indexes in Tiaojing Zhuyun mixture+ regulating menstration and promoting pregnancy by thirteen acupuncture + Clomiphene group were better than clomiphene group.The difference between groups was statistically significant(P<0.05).The ovulation rate was 66.7%and the pregnancy rate was 40%.The ovulation rate was 40%higher than the control group,and the pregnancy rate was 20%.The difference between groups was statistically significant(P<0.05).Conclusion In the patients with DOR follicular dysplasia infertility,Tiaojing Zhuyun mixture combined with regulating menstration and promoting pregnancy by thirteen acupuncture can improve the level of follicle stimulating hormone,promote follicular maturation and ovula-tion,reduce the resistance of uterine artery blood flow,increase the thickness of endometrial,promote pregnancy,and have fewer adverse reactions.
3.The study of plasma levels of sCD40 and sCD40L in Alzheimer’s disease and mild cognitive impairment
Ling LI ; Xiaomei ZHONG ; Haishan SHI ; Le HOU ; Xinni LUO ; Yanhua WANG ; Guoyan HU ; Xinru CHEN ; Wenru ZHANG ; Ben CHEN ; Qi PENG ; Yuping NING
Chinese Journal of Nervous and Mental Diseases 2016;42(8):460-464
Objective To explore the plasma levels of soluble CD40 (sCD40) and soluble CD40 ligand (sCD40L) in the patients with Alzheimer’s disease (AD) and those with amnestic mild cognitive impairment (aMCI). Methods The levels of plasma sCD40 and sCD40L were measured in 20 patients with AD, 35 patients with aMCI, and 32 cognitively normal controls (NC) using commercially available ELISAs. The cognitive function of AD and aMCI patients was mea?sured by mini-mental state examination (MMSE). Results There were significant differences in plasma sCD40 among AD, aMCI and NC groups (P<0.05) as the medians (the upper and lower quartiles) of plasma levels were 123.3 (97.4, 149.5) pg/mL, 102.9 (63.6, 124.0) pg/mL and 70.66 (51.0, 90.8) pg/mL, respectively. There were significant differences in plasma sCD40L among AD, aMCI and NC groups (P<0.05) as plasma levels were 537.0 (316.0, 1134.0) pg/mL, 316.0 (190.0,546.0) pg/mL and 167.0 (107.5,478.0) pg/mL. A negative correlation between the plasma concentrations of sCD40L and the MMSE scores was found in aMCI patients (r=-0.736, P<0.001). Conclusions There are relevant chang?es of plasma sCD40 and sCD40L levels in patients with AD and aMCI. The present results suggest that plasma levels of sCD40 and sCD40L may be appropriate biomarkers for AD patients and indicate that CD40-CD40L signaling may be in?volved in AD pathophysiology.
4.The effects of the age onset on cognitive function in late life depression
Yanhua WANG ; Xiaomei ZHONG ; Zhangying WU ; Ling LI ; Xinru CHEN ; Xinni LUO ; Hanqiu LI ; Jianping CHEN ; Yuping NING
Chinese Journal of Nervous and Mental Diseases 2016;42(3):145-149
Objective To investigate the cognitive characteristics and vascular risk factor between early onset de?pression and late onset depression in late life depression and provide a clue to elucidate the cause of cognitive impairment in late life depression. Method Fifty-six late life depression patients were recruited in our hospital, including 29 early on?set depression patients and 27 late onset depression patients. 25 controls were recruited from Guangzhou community. Cog?nitive evaluation were conducted in all the patients and controls, including MMSE, memory, attention, language, visuospa?tial abilities,executive function and Framingham vascular risk assessment, and analyze the cognitive and vascular risk be?tween the patients. Result There were statistically significant differences in overall cognitive assessment MMSE(24.8 ± 2.9,22.8±3.5,P=0.030), symbol digit modalities test(SDMT)(29.8±10.5, 22.9±11.8, P=0.028), clock drawing test(CDT) (3.6 ± 0.8, 2.9 ± 1.3, P=0.006) and trail making test(TMT) (60.4 ± 20.6, 74.7 ± 28.8, P=0.027) between late onset depression and early onset depression. In addition, the score of vascular risk assessment was significant between late onset depression and early onset depression(14.6±2.7,12.3±2.2,P=0.001). Conclusion Compare with early onset depression, late onset de?pression has much severe cognitive impairments and increased vascular risk factors.
5.Diagnosis and Treatment of Lophomonas blattarum Infection in 26 Patients with Bacterial Pneumonia
Yuling SHI ; Linhai LI ; Yang LIAO ; Xinni LI ; Xiaoyan HUANG ; Jian LIU ; Yan WANG ; Cheng CAO
Chinese Journal of Parasitology and Parasitic Diseases 1997;0(05):-
The clinical features of Lophomonas blattarum infection in 26 patients with bacterial pneumonia were analyzed.Common manifestation included fever,cough and breathlessness.Computed tomography(CT)showed interstitial change and alveolar exudation.The parasites were found in sputum smear and from the bronchoalveolar lavage fluid(BALF).Metronidazole was effectively used to cure the pulmonary infection of L.blattarum.

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