OBJECTIVETo study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography.

METHODSNine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis.

RESULTS(1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth.

CONCLUSIONS(1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography; (3) Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies.

Adult ; China ; Chromosome Aberrations ; Echocardiography ; methods ; statistics & numerical data ; Female ; Heart Defects, Congenital ; diagnostic imaging ; genetics ; Humans ; Infant, Newborn ; Pregnancy ; Sensitivity and Specificity ; Ultrasonography, Prenatal ; methods ; statistics & numerical data

OBJECTIVE: To analyze the impact of maternal age on sex chromosome aneuploidies (SCA). METHODS: Pregnant women who had karyotype analysis of amniotic fluid in Women's Hospital, Zhejiang University School of Medicine from January 2014 to July 2018 were recruited. The association of the maternal age with fetal SCAs was analyzed. RESULTS: The incidence of 45, X in age group >34-<38 was lower than that of ≤ 28 age group (<0.05). For the incidences of total sex chromosome trisomy and 47, XXY in age groups 34-<38 and ≥38 were higher than age groups ≤28 and >28-34 (<0.05 or <0.01). The incidence of 47, XXX in age group ≥ 38 was higher than that in age group>28-34 (<0.05). However, the incidence of 47, XYY had no differences among the four groups (>0.05). After excluding the high risk of sex chromosome abnormalities by non-invasive prenatal testing (NIPT), we found that for 45, X, the incidences of two groups with advanced age were lower than that of ≤ 28 year-old group of age group (<0.05 or <0.01), and incidence in age group >34-<38 was also lower than that in age group >28-34 (<0.05). The other results were consistent with those without excluding the high risk of sex chromosome abnormalities by NIPT. CONCLUSIONS Advanced age decreases the incidence of 45, X, but increases the risk of sex chromosome trisomy, especially 47, XXX and 47, XXY.
Adult ; Age Factors ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; statistics & numerical data ; Sex Chromosomes ; genetics ; Trisomy

To investigate hematopoiesis and cytogenetics changes in staff of interventional radiology.A total of 121 intervention radiation workers, 245 common radiation workers and 100 medical personnel (healthy control) without exposure to radiation were enrolled in the study. The peripheral lymphocyte chromosomal aberrations and micronucleus were detected, and the result of white blood cells examination was analyzed.Compared with common radiation group and healthy control group, decreases in white blood cells count, neutrophil ratio, and increase in lymphocyte ratio were observed in intervention radiation group (all<0.05). Intervention radiation group had higher chromosome aberration rate and micronuclear rate than common radiation group and healthy control group (all<0.05). Most common chromosome aberrations were dicentric chromosome, acentric ring, fragments and minute chromosome. Abnormal rates in chromosome aberration and micronucleus rates were increased with the rise of length of service, but no statistically significant difference was observed (>0.05).Long term exposure to ionizing radiation may lead to changes in the human hematopoietic system and cause human chromosome aberration, and the severity of such injuries may be associated with the dose of ionizing radiation.
Adult ; Chromosome Aberrations ; radiation effects ; Dose-Response Relationship, Radiation ; Female ; Hematopoiesis ; radiation effects ; Humans ; Leukocyte Count ; statistics & numerical data ; Leukocytes ; pathology ; radiation effects ; Lymphocytes ; pathology ; radiation effects ; ultrastructure ; Male ; Micronuclei, Chromosome-Defective ; radiation effects ; Occupational Exposure ; adverse effects ; Radiation Exposure ; adverse effects ; statistics & numerical data ; Radiation, Ionizing ; Radiologists ; statistics & numerical data ; Time Factors

OBJECTIVETo investigate the procedure and the value of G-banding, fluorescence in sit hybridization (FISH) and comparative genomic hybridization (CGH) techniques in prenatal diagnosis.

METHODSKaryotype analyses with three diagnostic procedures, G-banding, G-banding and FISH, G-banding, FISH and CGH, were performed in the amniotic fluid samples taken from 102 fetuses at gestational ages 16-24 weeks. And the significance was valued in prenatal diagnosis.

RESULTSIn the first procedure of karyotype analysis, 98 cases were diagnosed, 2 cases were not conformed while 2 cases were failed in all 102 cases. In the second procedure, 2 cases were determined, 1 case was not conformed and 1 case was still failed. In the third step, 2 cases were diagnosed. The diagnostic rate of the karyotype reached to 100% (102/102 cases) using all the three procedures. In total, seven cases with chromosomal abnormality were diagnosed. Four cases, 1 case and 2 cases were identified in the first step (4/7, 57.1%), the second (1/7, 14.3%) and the third (2/7, 28.5%), respectively.

CONCLUSIONIt can help improve the diagnostic rate of chromosomal aberrations and standardize diagnostic procedure to perform the three detecting steps in prenatal diagnosis.

Chromosome Aberrations ; statistics & numerical data ; Chromosome Banding ; methods ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 18 ; Comparative Genomic Hybridization ; methods ; Female ; Fetus ; Gestational Age ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; methods ; Male ; Nucleic Acid Hybridization ; methods ; Pregnancy ; Prenatal Diagnosis ; statistics & numerical data ; Risk Factors ; Ultrasonography, Prenatal ; methods

OBJECTIVETo analyze the relationship between karyotypic characteristics and treatment outcome of childhood acute lymphoblastic leukemia (ALL) and compare the difference in karyotypic aberration between ALL patients in China and in western countries.

METHODSFrom January 1998 to May 2003, 193 patients with newly diagnosed ALL were enrolled on protocol ALL-XH-99. The patients were classified into 4 groups according to the karyotype of the leukemia cells: normal karyotype, hypodiploid, hyperdiploid and pseudodiploid. Event-free survival (EFS) was estimated by Kaplan-Meier analysis and the distributions of EFS were compared using the log-rank test. A Cox proportional hazards model was used to identify independent prognostic factors.

RESULTS(1) Of 193 ALL patients, 115 had cytogenetic data. There were 53 (46.09%) with normal karyotype, 29 (25.22%) hyperdiploid, 9 (7.83%) hypodiploid, 4 coexpression of hypodiploid/hyperdiploid and 20 (17.39%) pseudodiploid. The probability of 5-year EFS for the four subgroups were (78.28 +/- 6.34)%, (86.07 +/- 6.47)%, (53.85 +/- 13.83)% and (40.10 +/- 12.17)%, respectively (P = 0.0041). (2) The clinical presentation and early response to treatment had no difference among the four groups, but the events are significantly different. (3) The probability of 5-year EFS for the combined hypodiploid group and the non-hypodiploid group was (53.85 +/- 13.83)% and (69.98 +/- 5.94)%, respectively (P = 0.1281). (4) The probability of 4-year EFS was significantly worse for patients with Philadelphia chromosome than for no Philadelphia chromosome patients [(28.57 +/- 17.07)% vs (70.85 +/- 5.60)%, P = 0.0009]. (5) Multivariate analysis suggested that the karyotypic characteristics, Philadelphia chromosome, age < 1-year or > 12-year, and white blood cell counts were independent prognostic factors.

CONCLUSIONSThe cytogenetic pattern of Chinese childhood ALL patients was similar to that of western countries. Cytogenetic findings especially Philadelphia chromosome had important prognostic significance.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; statistics & numerical data ; Diploidy ; Female ; Humans ; Infant ; Kaplan-Meier Estimate ; Karyotyping ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; classification ; genetics ; pathology ; Prognosis ; Proportional Hazards Models

The extent of unilateral chromosomal losses and the presence of microsatellite instability (MSI) have been classified into high-risk (high- and baseline-level loss) and low-risk (low-level loss and MSI) stem-line genotypes in gastric carcinomas. A unilateral genome-dosage reduction might stimulate compensation mechanism, which maintains the genomic dosage via CpG hypomethylation. A total of 120 tumor sites from 40 gastric carcinomas were examined by chromosomal loss analysis using 40 microsatellite markers on 8 chromosomes and methylation analysis in the 13 CpG (island/non-island) regions near the 10 genes using the bisulfite-modified DNAs. The high-level-loss tumor (four or more losses) showed a tendency toward unmethylation in the Maspin, CAGE, MAGE-A2 and RABGEF1 genes, and the other microsatellite-genotype (three or fewer losses and MSI) toward methylation in the p16, hMLH1, RASSF1A, and Cyclin D2 genes (p<0.05). The non-island CpGs of the p16 and hMLH1 genes were hypomethylated in the high-level-loss and hypermethylated in the non-high-level-loss sites (p<0.05). Consequently, hypomethylation changes were related to a high-level loss, whereas the hypermethylation changes were accompanied by a baseline-level loss, a low-level loss, or a MSI. This indicates that hypomethylation compensates the chromosomal losses in the process of tumor progression.
Chromosome Aberrations/*statistics and numerical data ; Chromosome Mapping/*methods ; CpG Islands/*genetics ; *DNA Methylation ; DNA Mutational Analysis/methods ; France/epidemiology ; Genetic Predisposition to Disease/epidemiology/genetics ; Genetic Screening/methods ; Genomic Instability/genetics ; Humans ; Incidence ; Korea/epidemiology ; Microsatellite Repeats/genetics ; Polymorphism, Genetic ; Research Support, Non-U.S. Gov't ; Risk Assessment/*methods ; Risk Factors ; Statistics ; Stomach Neoplasms/*enzymology/*genetics