OBJECTIVE: To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods. METHODS: A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860). RESULTS: Among the 11,000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45,X/46,X,psu idic(Y)(q11.22) mosaicism and one fetus with 46,X,psu idic(Y)(q11.22) were detected. FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. AZF testing revealed complete deletion of the AZFb+AZFc regions in fetus 2 and fetus 3. CONCLUSION Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; DNA Copy Number Variations/genetics* ; Adult ; Chromosomes, Human, Y/genetics* ; Karyotyping ; In Situ Hybridization, Fluorescence ; Cytogenetic Analysis/methods* ; Fetus ; High-Throughput Nucleotide Sequencing ; Male

OBJECTIVE: To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies. METHODS: A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339). RESULTS: Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. CONCLUSION The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans ; Female ; Pregnancy ; Aneuploidy ; Prenatal Diagnosis/methods* ; Karyotyping ; Retrospective Studies ; Polymerase Chain Reaction/methods* ; Chromosome Disorders/genetics* ; Adult ; Trisomy 13 Syndrome/diagnosis* ; Trisomy 18 Syndrome/genetics* ; Down Syndrome/genetics*

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.