1.Systematic review and Metaanalysis of intervention effects and maintenance of school based sexual abuse prevention programs
DONG Ziyao, MA Yihan, WANG Guoqing, WU Shouyuan, GONG Wenjie
Chinese Journal of School Health 2025;46(10):1416-1421
Objective:
To explore effects and maintenance of school based sexual abuse prevention programs for minors, so as to provide scientific evidences for optimizing intervention design and policy making.
Methods:
Six Chinese and English databases were searched, including CNKI, Wanfang Database, Medline (via PubMed), Embase, Cochrane Library and Web of Science, with the time frame set from database inception to December 31, 2024. Studies on school based sexual abuse prevention programs for minors were selected, and data on knowledge, attitudes and skills related to sexual abuse prevention were extracted. Meta analysis was performed using Stata 17.
Results:
A total of 26 studies were included. The Meta analysis results showed that school based sexual abuse prevention programs improved participants knowledge ( SMD=1.24, 95%CI =0.96-1.52), attitudes ( SMD=0.62, 95%CI =0.19-1.04) and skills ( SMD=0.66, 95%CI =0.50-0.83) (all P <0.01). During the overall follow up, the maintenance rates for knowledge, attitudes, and skills were 0.97(95% CI =0.95-1.00), 0.99(95% CI =0.95-1.04) and 1.01(95% CI =0.99-1.04), respectively, with no statistically significant differences (all P >0.05). However, knowledge retention declined significantly when follow up exceeded three months ( R=0.91, 95%CI=0.83-0.99, P <0.01), while skills retention ( R=0.94, 95%CI=0.87-1.02, P = 0.23) remained higher than knowledge and attitudes ( R=0.98, 95%CI=0.96-1.00, P =0.13), demonstrating stronger long term effects.
Conclusion
School based sexual abuse prevention programs are effective in enhancing participants knowledge, attitudes and skills, but the intervention effects diminish over time, particularly in knowledge retention.
2.Effect of different filters on the efficacy in patients with sepsis-associated acute kidney injury.
Wenjie ZHOU ; Tian ZHAO ; Qi MA ; Xigang MA
Chinese Critical Care Medicine 2025;37(1):48-52
OBJECTIVE:
To investigate the effects of using different filters in continuous renal replacement therapy (CRRT) on the mortality, inflammatory mediator level and hemodynamics in patients with sepsis-associated acute kidney injury (SA-AKI).
METHODS:
A prospective study was conducted. The patients with SA-AKI undergoing first CRRT admitted to the critical care medicine department of General Hospital of Ningxia Medical University from August 2022 to October 2023 were enrolled as the study objects, and they were divided into observation group and control group by random number table method. All patients received routine treatment including anti-infection, optimized volume management and organ function support. On this basis, the observation group was treated with oXiris filter for CRRT, while the control group was treated with ordinary filter for CRRT, and the first treatment time was ≥ 36 hours. General data of the two groups were collected and compared. At the same time, the inflammatory indicators [high-sensitivity C-reactive protein (hs-CRP), procalcitonin (PCT), interleukin-6 (IL-6)], sequential organ failure assessment (SOFA) score, mean arterial pressure (MAP), blood lactic acid (Lac), noradrenaline dosage and other related indicators were collected before CRRT treatment and 24 hours and 48 hours after treatment, and the 7-day and 28-day mortality of patients were recorded.
RESULTS:
Finally, 65 patients were enrolled, including 30 in the observation group and 35 in the control group. There were no significant differences in baseline data including age, gender, acute kidney injury (AKI) stage and infection source between the two groups. The 7-day mortality of observation group was significantly lower than that of control group [16.7% (5/30) vs. 42.9% (15/35), P < 0.05]. There was no significant difference in 28-day mortality between the observation group and the control group [36.7% (11/30) vs. 54.3% (19/35), P > 0.05]. There were no significant differences in inflammation indicators, SOFA score, MAP, Lac and norepinephrine dosage before treatment between the two groups. After 24-hour and 48-hour treatment, the hemodynamics of the two groups were stable compared with before treatment, the inflammatory indicators, SOFA score, Lac and norepinephrine dosage were reduced to varying degrees, and MAP was significantly increased. In the observation group, hs-CRP, PCT, IL-6, SOFA score, MAP, and norepinephrine dosage showed statistical significance at 24 hours after treatment as compared with before treatment [hs-CRP (mg/L): 125.0 (105.0, 171.2) vs. 280.5 (213.2, 313.8), PCT (μg/L): 51.0 (20.0, 62.8) vs. 71.0 (10.8, 100.0), IL-6 (ng/L): 1 762.2 (300.8, 4 327.5) vs. 4 447.5 (630.4, 5 000.0), SOFA score: 13.0 (12.0, 14.0) vs. 16.0 (15.0, 17.0), MAP (mmHg, 1 mmHg ≈ 0.133 kPa): 79.00±12.87 vs. 65.20±11.70, norepinephrine dosage (μg×kg-1×min-1): 0.82±0.33 vs. 1.63±0.51, all P < 0.05]. In the control group, PCT and MAP showed statistical significance after 48 hours of treatment as compared with before treatment. Compared with the control group, hs-CRP, SOFA score and norepinephrine dosage after 48 hours of treatment in the observation group were significantly decreased [hs-CRP (mg/L): 87.2 (74.2, 126.0) vs. 157.0 (88.0, 200.0), SOFA score: 11.0 (10.0, 12.0) vs. 12.0 (10.0, 14.0), norepinephrine dosage (μg×kg-1×min-1): 0.51±0.37 vs. 0.81±0.58, all P < 0.05], MAP was significantly increased (mmHg: 82.00±8.71 vs. 77.77±7.80, P < 0.05).
CONCLUSION
In the treatment of CRRT, oXiris filter can reduce the short-term mortality of SA-AKI patients, lower inflammatory mediators levels and improve hemodynamics, showing therapeutic advantages over conventional filters.
Humans
;
Acute Kidney Injury/etiology*
;
Sepsis/therapy*
;
Prospective Studies
;
Interleukin-6
;
Continuous Renal Replacement Therapy/methods*
;
C-Reactive Protein
;
Male
;
Female
;
Middle Aged
;
Hemodynamics
;
Procalcitonin
;
Aged
3.Predictive value of inflammatory indicator and serum cystatin C for the prognosis of patients with sepsis-associated acute kidney injury.
Wenjie ZHOU ; Nan ZHANG ; Tian ZHAO ; Qi MA ; Xigang MA
Chinese Critical Care Medicine 2025;37(3):275-279
OBJECTIVE:
To investigate the predictive value of inflammatory indicator and serum cystatin C (Cys C) for the prognosis of patients with sepsis-associated acute kidney injury (SA-AKI).
METHODS:
A prospective observational study was conducted. Patients with SA-AKI admitted to the intensive care unit (ICU) of the General Hospital of Ningxia Medical University from January 2022 to December 2023 were selected as the study subjects. General patient data, sequential organ failure assessment (SOFA), acute physiology and chronic health evaluation II (APACHE II), inflammatory indicator, and serum Cys C levels were collected. The 28-day survival status of the patients was observed. A multivariate Logistic regression model was used to analyze the risk factors affecting the poor prognosis of SA-AKI patients. Receiver operator characteristic curve (ROC curve) was plotted to evaluate the predictive efficacy of each risk factor for the prognosis of SA-AKI patients.
RESULTS:
A total of 111 SA-AKI patients were included, with 65 patients (58.6%) in the survival group and 46 patients (41.4%) in the death group. The SOFA score, APACHE II score, interleukin-6 (IL-6), procalcitonin (PCT), hypersensitive C-reactive protein (hs-CRP), and serum Cys C levels in the death group were significantly higher than those in the survival group [SOFA score: 15.00 (14.00, 17.25) vs. 14.00 (11.00, 16.00), APACHE II score: 26.00 (23.75, 28.00) vs. 23.00 (18.50, 28.00), IL-6 (ng/L): 3 731.00±1 573.61 vs. 2 087.93±1 702.88, PCT (μg/L): 78.19±30.35 vs. 43.56±35.37, hs-CRP (mg/L): 266.50 (183.75, 326.75) vs. 210.00 (188.00, 273.00), serum Cys C (mg/L): 2.01±0.61 vs. 1.62±0.50, all P < 0.05]. Multivariate Logistic regression analysis showed that SOFA score [odds ratio (OR) = 1.273, 95% confidence interval (95%CI) was 1.012-1.600, P = 0.039], IL-6 (OR = 1.000, 95%CI was 1.000-1.001, P = 0.043), PCT (OR = 1.018, 95%CI was 1.002-1.035, P = 0.030), and Cys C (OR = 4.139, 95%CI was 1.727-9.919, P = 0.001) were independent risk factors affecting the 28-day prognosis of SA-AKI patients. ROC curve analysis showed that the area under the curve (AUC) of SOFA score, IL-6, PCT, and Cys C in predicting the 28-day prognosis of SA-AKI patients were 0.682 (95%CI was 0.582-0.782, P = 0.001), 0.753 (95%CI was 0.662-0.843, P < 0.001), 0.765 (95%CI was 0.677-0.854, P < 0.001), and 0.690 (95%CI was 0.583-0.798, P = 0.001), respectively. The combined predictive value of these four indicators for the prognosis of SA-AKI patients were superior to that of any single indicator, with an AUC of 0.847 (95%CI was 0.778-0.916, P < 0.001), a sensitivity of 95.7%, and a specificity of 56.9%.
CONCLUSION
The combination of SOFA score, IL-6, PCT, and Cys C provides a reliable predictive value for the prognosis of SA-AKI patients.
Humans
;
Acute Kidney Injury/mortality*
;
APACHE
;
C-Reactive Protein
;
Cystatin C/blood*
;
Interleukin-6/blood*
;
Logistic Models
;
Predictive Value of Tests
;
Procalcitonin/blood*
;
Prognosis
;
Prospective Studies
;
Risk Factors
;
ROC Curve
;
Sepsis/mortality*
4.Analysis of pathogenic bacteria distribution and immune response of urinary tract infection after pyeloureteroplasty in children
Hailin WANG ; Yi CHENG ; Huixian ZHAO ; Wenjie MA ; Zhong HE
Chinese Journal of Immunology 2025;41(10):2488-2494
Objective:To investigate the changes of pathogenic bacteria distribution and immune response of urinary tract infection(UTI)after pyeloureteroplasty in children.Methods:A total of 150 children with obstructive hydronephroplasty who received pyeloureteroplasty in Qinghai Women and Children's Hospital from February 2020 to June 2023 were selected as the study objects.The postoperative urine of the children was collected,the pathogens were identified by automatic bacterial analyzer,and the patients were divided into infected group and uninfected group according to the infection status.The detection of pathogenic bacteria in children with UTI was analyzed.The clinical data of the two groups were compared,and the influencing factors of postoperative UTI were screened by Logistic regression analysis,and the prediction model was established and verified.The changes of immune response were compared between the two groups.Results:UTI occurred in 56 cases(37.33%)of 150 children who underwent pyeloureteroplasty.There were 58 strains of gram-negative bacteria,29 strains of gram-positive bacteria and 2 strains of fungi isolated.The main pathogenic bacteria was Escherichia coli.Multivariate Logistic regression analysis showed that serum creatinine(SCr)and hydronephrosis volume/renal volume(HV/RV)levels increased,urinary catheter retention time,urinary bag replacement time and hospital stay were risk factors for UTI after pyeloureteroplasty in children,increased age and elevated albumin(Alb)were protective factors(P<0.05).Through Bootstrap self-sampling,the prediction model had good differentiation and accuracy.There was no significant difference in the levels of CD4+,CD8+and IgM between the two groups before surgery(P>0.05),and the levels of CD4+,CD8+and IgM were signi-ficantly improved between the two groups after surgery,and the improvement degree of the uninfected group was significantly better than that of the infected group(P<0.05).Conclusion:The pathogens of UTI in children after pyeloureteroplasty are mainly gram-nega-tive bacteria,and the immune function is increased 7 days after the operation.
5.MITF expression in acral melanoma tissues and its association with clinical,pathological characteristics and prognosis
Tong WANG ; Wei SUN ; Yu XU ; Tu HU ; Wanlin LIU ; Qiongdan ZHENG ; Zijian ZOU ; Zirui DONG ; Wenjie MA ; Yong CHEN
China Oncology 2025;35(9):859-866
Background and purpose:The microphthalmia-associated transcription factor(MITF)plays a complex role in melanoma pathogenesis and progression.It is known to regulate multiple processes both in melanocytes and melanoma cells.While numerous studies have explored MITF in cutaneous melanoma(CM),research in acral melanoma(AM)is still limited.This study retrospectively analyzed the correlation between MITF expression and clinical,pathological characteristics and prognosis in AM patients,providing a basis for prognosis evaluation and personalized treatment plan formulation for patients.Methods:Patients who underwent primary resection of AM at Fudan University Shanghai Cancer Center from March 2008 to February 2022 were included.All surgical samples were diagnosed by clinical histopathology and used to construct the tissue microarray(TMA).This study was approved by the medical ethics committee of Fudan University Shanghai Cancer Center(approval number:2203-ZZK-69-3).Cutting complete tissue microarray and evaluating MITF expression levels by immunohistochemistry(IHC)staining were carried out.The results were independently assessed and scored by three pathologists.Clinical and pathological data were collected from the hospital's electronic medical record system,and each patient's data was matched to their corresponding tissue sample on the chip.Patients were stratified into two groups based on MITF expression levels.Statistical analyses were performed to assess differences in clinical,pathological characteristics and survival outcomes between these two groups.Results:A total of 137 AM patients were included.MITF expression was significantly associated with T stage,N stage,American Joint Committee on Cancer(AJCC)stage,clark level,sentinel lymph node status,and presence of ulceration.Among these,N stage and ulceration were independent risk factors for high expression of MITF after adjusting for confounding factors.Survival analysis showed that AM patients with high MITF expression or higher T stage were associated with shorter disease-free survival(DFS).Patients with high MITF expression showed no significant difference in overall survival(OS)between observation or cytokine therapy and adjuvant immune checkpoint inhibitor(ICI)therapy,whereas those with low MITF expression derived significant survival benefits from ICI treatment.Conclusion:A higher N stage or the presence of ulceration indicates high MITF expression in tumor cells,with high MITF levels serving as a warning signal for early recurrence,metastasis,and even death.Patients with low MITF expression could receive improved OS with early adjuvant ICI therapy.MITF could not only serve as an auxiliary diagnostic marker for melanoma but also provide a basis for clinical prognosis assessment and the formulation of personalized treatment plans.
6.Molecular epidemiological characteristics and hypervirulence evolution of ST11 carbapenem-resistant Klebsiella pneumoniae in medical institutions in Shanghai
Jing BI ; Wenjie CHEN ; Liang TIAN ; Qian LIU ; Huanyu WU ; Min CHEN ; Taiyao CHEN ; Tingting SHI ; Wei MA ; Hongzhi ZHANG
Chinese Journal of Infection Control 2025;24(8):1075-1082
Objective To understand the molecular epidemiological characteristics and hypervirulence evolution trend of ST11 carbapenem-resistant Klebsiella pneumoniae(CRKP)isolated from medical institutions in Shanghai,and provide scientific basis for formulating the prevention and control measures of drug-resistant organisms.Methods A total of 201 strains of CRKP isolated from 12 medical institutions in Shanghai from 2021 to 2022 were collected.Antimicrobial susceptibility testing and whole genome sequencing were performed.The concatenated data was used for multilocus sequencing typing(MLST),serum typing(wzi typing),as well as analysis of resistance and viru-lence genes.Results All 201 CRKP strains were multidrug-resistant organisms(MDROs).These strains were al-most completely resistant to carbapenems,cephalosporins,and quinolones.Drug resistance gene analysis showed that 93.03%of CRKP strains carried KPC gene.201 CRKP strains were divided into 6 ST types and 10 capsule wzi types,with ST11-KL64(n=104)being the dominant type,followed by ST15-KL19(n=54).52.24%(n=105)of CRKP carried rpmA/rpmA2+iucA+iutA+iroN genes.Conclusion CRKP isolated from medical institutions in Shanghai is mainly ST11-KL64 type with severe multidrug resistance,and more than half of the strains are hyper-virulent carbapenem-resistant Klebsiella pneumoniae(hv-CRKP).It is necessary to continuously strengthen the monitoring of the molecular characteristics of CRKP,so as to prevent outbreaks of healthcare-associated infection.
7.Analysis of pathogenic bacteria distribution and immune response of urinary tract infection after pyeloureteroplasty in children
Hailin WANG ; Yi CHENG ; Huixian ZHAO ; Wenjie MA ; Zhong HE
Chinese Journal of Immunology 2025;41(10):2488-2494
Objective:To investigate the changes of pathogenic bacteria distribution and immune response of urinary tract infection(UTI)after pyeloureteroplasty in children.Methods:A total of 150 children with obstructive hydronephroplasty who received pyeloureteroplasty in Qinghai Women and Children's Hospital from February 2020 to June 2023 were selected as the study objects.The postoperative urine of the children was collected,the pathogens were identified by automatic bacterial analyzer,and the patients were divided into infected group and uninfected group according to the infection status.The detection of pathogenic bacteria in children with UTI was analyzed.The clinical data of the two groups were compared,and the influencing factors of postoperative UTI were screened by Logistic regression analysis,and the prediction model was established and verified.The changes of immune response were compared between the two groups.Results:UTI occurred in 56 cases(37.33%)of 150 children who underwent pyeloureteroplasty.There were 58 strains of gram-negative bacteria,29 strains of gram-positive bacteria and 2 strains of fungi isolated.The main pathogenic bacteria was Escherichia coli.Multivariate Logistic regression analysis showed that serum creatinine(SCr)and hydronephrosis volume/renal volume(HV/RV)levels increased,urinary catheter retention time,urinary bag replacement time and hospital stay were risk factors for UTI after pyeloureteroplasty in children,increased age and elevated albumin(Alb)were protective factors(P<0.05).Through Bootstrap self-sampling,the prediction model had good differentiation and accuracy.There was no significant difference in the levels of CD4+,CD8+and IgM between the two groups before surgery(P>0.05),and the levels of CD4+,CD8+and IgM were signi-ficantly improved between the two groups after surgery,and the improvement degree of the uninfected group was significantly better than that of the infected group(P<0.05).Conclusion:The pathogens of UTI in children after pyeloureteroplasty are mainly gram-nega-tive bacteria,and the immune function is increased 7 days after the operation.
8.MITF expression in acral melanoma tissues and its association with clinical,pathological characteristics and prognosis
Tong WANG ; Wei SUN ; Yu XU ; Tu HU ; Wanlin LIU ; Qiongdan ZHENG ; Zijian ZOU ; Zirui DONG ; Wenjie MA ; Yong CHEN
China Oncology 2025;35(9):859-866
Background and purpose:The microphthalmia-associated transcription factor(MITF)plays a complex role in melanoma pathogenesis and progression.It is known to regulate multiple processes both in melanocytes and melanoma cells.While numerous studies have explored MITF in cutaneous melanoma(CM),research in acral melanoma(AM)is still limited.This study retrospectively analyzed the correlation between MITF expression and clinical,pathological characteristics and prognosis in AM patients,providing a basis for prognosis evaluation and personalized treatment plan formulation for patients.Methods:Patients who underwent primary resection of AM at Fudan University Shanghai Cancer Center from March 2008 to February 2022 were included.All surgical samples were diagnosed by clinical histopathology and used to construct the tissue microarray(TMA).This study was approved by the medical ethics committee of Fudan University Shanghai Cancer Center(approval number:2203-ZZK-69-3).Cutting complete tissue microarray and evaluating MITF expression levels by immunohistochemistry(IHC)staining were carried out.The results were independently assessed and scored by three pathologists.Clinical and pathological data were collected from the hospital's electronic medical record system,and each patient's data was matched to their corresponding tissue sample on the chip.Patients were stratified into two groups based on MITF expression levels.Statistical analyses were performed to assess differences in clinical,pathological characteristics and survival outcomes between these two groups.Results:A total of 137 AM patients were included.MITF expression was significantly associated with T stage,N stage,American Joint Committee on Cancer(AJCC)stage,clark level,sentinel lymph node status,and presence of ulceration.Among these,N stage and ulceration were independent risk factors for high expression of MITF after adjusting for confounding factors.Survival analysis showed that AM patients with high MITF expression or higher T stage were associated with shorter disease-free survival(DFS).Patients with high MITF expression showed no significant difference in overall survival(OS)between observation or cytokine therapy and adjuvant immune checkpoint inhibitor(ICI)therapy,whereas those with low MITF expression derived significant survival benefits from ICI treatment.Conclusion:A higher N stage or the presence of ulceration indicates high MITF expression in tumor cells,with high MITF levels serving as a warning signal for early recurrence,metastasis,and even death.Patients with low MITF expression could receive improved OS with early adjuvant ICI therapy.MITF could not only serve as an auxiliary diagnostic marker for melanoma but also provide a basis for clinical prognosis assessment and the formulation of personalized treatment plans.
9.Association study between mammalian sterile 20-like kinase 2 SNPs and colorectal cancer
Xingyu Wang ; Licong Ma ; Wenjie Dong ; Fang Gao ; Yanbin Jia
Acta Universitatis Medicinalis Anhui 2025;60(12):2264-2272
Objective:
To explore the association between mammalian sterile 20-like kinase 2(MST2) gene polymorphism and haplotype and the risk of colorectal cancer, rectal cancer, and colon cancer in the Han population in Baotou area by case-control association study.
Methods:
A total of 390 patients with colorectal cancer diagnosed by pathology and 413 normal physical examination pop-ulation were collected, and 2 mL of peripheral blood was taken for subsequent gene genotyping. Single nucleotide polymorphisms(SNPs) of MST2 gene were screened according to the genetic polymorphism data of Chinese Han population provided by the NCBI-Hapmap database. Gene genotyping was performed by Taqman method. Logistic regression was used to calculate the association between each SNP and the risk of colorectal cancer, colon cancer, and rectal cancer under codominant, dominant, overdominant, and recessive genetic models.
Results:
Five SNPs of MST2 gene were screened, namely rs11783149, rs10955176, rs7827435, rs4075986, rs3019295. Among them, SNP rs4075986 was associated with the risk of colorectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=2.473(1.844-3.316) could increase the risk of colorectal cancer. Compared with the rs4075986 GG genotype, carrying the AG+AA genotype [OR(95%CI)=2.475(1.844-3.323) could increase the risk of colorectal cancer. SNP rs4075986 and rs3019295 were associated with the risk of rectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=3.411(2.387-4.874)] could increase the risk of rectal cancer. Compared with the rs3019295 GG+AA genotype, carrying the AG genotype [OR(95%CI)=0.706(0.501-0.996)] could reduce the risk of rectal cancer. SNP rs11783149 and rs4075986 were associated with the risk of colon cancer. Compared with the rs11783149 CC genotype, carrying the TT [OR(95%CI)=10.883(1.186-99.862)] and CT [OR(95%CI)=1.665(1.036-2.675)] genotype could increase the risk of colon cancer, respectively. Compared with the rs4075986 GG genotype, the AG+AA genotype [OR(95%CI)=1.824(1.262-2.638)] could increase the risk of colon cancer.
Conclusion
MST2 gene SNP rs3019295 AG genotype may be protective factor for rectal cancer. SNP rs11783149 CT and TT genotypes maybe risk factors for colon cancer. SNP rs4075986 AG and AG+AA genotypes may be a common risk factors for colorectal cancer, rectal cancer and colon cancer.
10.Application of long-read sequencing based haplotype construction in preimplantation genetic testing for a patient with Incontinentia pigmenti.
Wenjie MA ; Min XIE ; Kai KANG ; Mengnan GU ; Lulu YAN ; Shanshan WU ; Haibo LI ; Jiangyang XUE
Chinese Journal of Medical Genetics 2025;42(5):518-524
OBJECTIVE:
To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology.
METHODS:
A female IP patient with a heterozygous IKBKG c.1167dup variant but without family genetic data who sought genetic counseling at Women and Children' Hospital of Ningbo University in November 2021 was selected as the study subject. The IKBKG gene has a highly homologous pseudogene IKBKGP1. Genomic DNA was extracted from peripheral blood samples from the couple, and LRS was used to obtain informative SNP loci flanking the variant locus, enabling the construction of SNP haplotype with a long segment spanning from the non-homologous region of IKBKG to the variant site. Trophoblast cells were biopsied from blastocysts fertilized through intracytoplasmic sperm injection, and next-generation sequencing (NGS) was used to determine the SNP information of the embryos. Linkage analysis with the parental SNP haplotypes was conducted to detect the carrier status of the embryos and exclude chromosomal aneuploidies. Sanger sequencing was carried out to validate the result. A euploid embryo without the pathogenic variant was selected for transfer. Prenatal diagnosis was carried out by amniocentesis at mid-trimester to verify the result of PGT tests, and follow-up was conducted after the baby was born. This study has been approved by the Ethics Committee of Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094).
RESULTS:
A total of seven blastocysts were tested, and PGT results indicated that two embryos were euploid and did not carry the pathogenic variant. One euploid embryo was transferred, which resulted in a singleton pregnancy. Amniocentesis at 24 weeks of gestation confirmed that the status of fetal IKBKG gene, and its chromosomal status was consistent with the PGT results. A healthy male infant was born at 38+6 weeks of gestation.
CONCLUSION
For IP patients with de novo mutation or without family genetic samples, PGT with LRS can directly construct the SNP-based haplotype while avoiding interference from pseudogenes, providing an effective strategy for PGT.
Female
;
Humans
;
Male
;
Pregnancy
;
Genetic Testing/methods*
;
Haplotypes/genetics*
;
High-Throughput Nucleotide Sequencing/methods*
;
I-kappa B Kinase/genetics*
;
Incontinentia Pigmenti/diagnosis*
;
Polymorphism, Single Nucleotide/genetics*
;
Preimplantation Diagnosis/methods*
;
Infant, Newborn


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