Objective To investigate a simple and efficient fluorescence in situ hybridization method for prenatal diagnosis.Methods Thirty-six cases of chorionic villus samples were hybridized with probes 18/X/Y,13/21 by using traditional cuhure methods and modified three-step methods in controlled experimentation during 2012 to 2013.The hybridization rate and fluorescence signals were analyzed.Results A total of 72 hybrid zone were detected.Probe 21/13 hybridization rate and fluorescence signals of three-step modified methods were higher than that of traditional methods(99.72％ ±0.42％ vs 85.90％ ±4.15％,t =20.4,P ＜0.01; 2.58 ±0.50 vs 1.52 ± 0.55,t =7.53,P ＜0.01).Probe 18/X/Y has the same hybridization rate and fluorescence signals between three-step modified methods and traditional methods (99.57％ ±0.53％ vs99.70％ ±0.42％,t=1.30,P＞0.05; 2.22±0.42 vs2.36±0.48,t=1.57,P＞0.05).The coincidence rate of two methods was 100％ (36/36).Conclusion The modified fluorescence in situ hybridization three-step methods in the study was simple,rapid,effective and environment-friendly.At the same time,it has some defects such as the signals of 18/X/Y was not concentrated enough.Further exploration is needed.

Objective To investigate the age distribution and types of human papillomavirus (HPV) cervical infection in patients in Wuhan region, so as to provide scientific basis for the prevention and treatment of HPV infection and cervical cancer.Methods 9 915 exfoliated cervical cell specimens from patients in Wuhan Medical and Health Center for Women and Children between January 2015 and March 2016 were performed HPV genotyping (21 subtypes), clinical data of 1 732 HPV positive cases were statistically analyzed.Results HPV-positive rates in ≤25, 26~, 36~, 46~, and ≥56 age groups were 22.15%, 15.90%, 17.04%, 19.97%, and 17.57%,respectively (χ2=36.587,P<0.01),HPV-positive rates in ≤25 and 46~ age groups were both higher than other age groups.There were significant differences in single infection and multiple infection rates among different age groups respectively(χ2=14.39, 36.51,respectively, both P<0.05),single infection rate was highest in 46~ and ≤25 age groups (15.41% and 15.24% respectively);multiple infection rates was highest in ≤25 and ≥56 age groups (6.90% and 5.86% respectively).The percentage of single infection and multiple infection were 75.58% and 24.42% respectively, the major single infection type was HPV high-risk subtype (84.34%),the major multiple infection types were high-risk and high-risk compound subtype as well as high-risk and low-risk compound subtype, accounting for 60.52% and 38.77% respectively.The main single infection types were HPV high-risk subtypes 33, 68, 31 and 16, as well as and low-risk subtype 11, the ratios of single infection to multiple infection were 3.13, 2.03, 1.71, 1.67 and 2.00 respectively.Conclusion Cervical infection rates in women in Wuhan region is high in ≤25 and 46~ age groups, there are differences in the distribution of different HPV subtypes of single infection and multiple infection.

Objective To investigate the status of clinical nutrition management in patients in PICU,and to provide data for promoting the improvement and development of clinical nutrition of pediatric critically ill patients.Methods A questionnaire survey was conducted on PICU specialists.The nutrition assessment,nutrition intervention and nutrition management of critically ill children in PICU were investigated.The results were summarized and analyzed.Results A total of 39 PICU specialists were involved in this survey.The nutritional assessment methods and guidelines in domestic PICU were not unified.Twenty-five respondents (64.1%) believed that both clinical performance and the scales as the basis can decide whether the patients should be fed or not;all respondents believed that nutritional assessment and intervention time need to be determined by the needs of the patients;23 respondents(58.9%) used weight only as their nutritional monitoring indicators.Twenty-eight respondents(71.8%) considered that gastric tube was the first choice way to feeding for the critically ill children;20 respondents(51.3%) believed that critically ill children should be fed within 24 hours.Twelve respondents (33.3%) believed that critically ill children should be fed between 24 to 48 hours.Thirty-three respondents(84.6%) advocated early enteral nutrition;36 respondents (92.3%) considered that the main reasons of fasting in critically ill children were vomiting or abdominal distension or gastrointestinal bleeding.Twenty-eight respondents(71.8%) believed that according to the results of gastrointestinal function evaluation,they made decisions whether the patient to fast or not.Twenty-three respondents(59.0%) considered that specialists in PICU were the decision maker of the clinical nutrition in critically ill children.Twenty-four (61.5%) of the respondents believed that we needed to establish our own routines in management of nutrition in PICU.Conclusion At present in China,a lot of achievements have been made in the nutritional assessment,monitoring,early enteral nutrition intervention and management in critically ill children,but it is not enough.We need to make more effort to enhance the critically nutrition level in PICU,and we have a lot of research to do about nutrition assessment and nutrition intervention mode.It is recommended to establish Chinese guidelines or consensus to enhance the level of nutritional treatment of critically ill children.

Objective: To understand the social psychological status of the elderly in different age groups ( young, middle-aged and old) , and explore the main factors that influence the social psychological status of the elderly. Method:Using the Chinese Health and Retirement Survey ( CHARLS) database, the descriptive statistics, factor analysis and multiple linear regression were used to analyze the social psychological status and influencing factors of the elderly at different ages over 60 years of age in China. Results:The social psychological status of the elderly gradually became worse with age. The social psychological status of the elderly in the low age group was better than that in the middle age and the high age group; the depression factor of the middle age group was better than that of the low age group and the high age group;and the social psychological status of the elderly was generally poor. In the regression analysis, the effects of age, marital status, physical health status, activity frequency, and life satisfaction on the social psychological status of the elderly had statistical significance ( P <0. 05). Conclusion: Age, marital status, physical health status, activity frequency and life satisfaction are the main factors that influence the social psychological status of the elderly, and the government, society and relatives should pay attention to the social psychological health of the elderly.

OBJECTIVE: To analyze the prenatal diagnosis procedure for a 45,X male fetus. METHODS: A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization. RESULTS: Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+). CONCLUSION BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

OBJECTIVETo determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).

METHODSThe sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.

RESULTSIn case 1, G-banding analysis has identified a 47,XY,+mar karyotype. Affymetrix CytoScan 750K Array scan has suggested arr 15q11.2q12(22 770 421-26 604 587)?, while FISH analysis suggested 47,XN,+mar.ish i(15)(q12)(D15Z1+,SNRPN++,PML-). In case 2, G-banding analysis has suggested 46,X,+mar/46,XY, FISH analysis showed two SRY hybridization signals, indicating 46,X,i(Y)(p10)/46,XY.

CONCLUSIONMultiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis

OBJECTIVE: To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis. METHODS: The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients. RESULTS: BoBs has detected 46 cases of common aneuploidies involving chromosomes 13, 18, and 21, and 16 cases involving X and Y chromosomes. For 4 fetuses with normal results by BoBs, karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms (< 20%). BoBs has detected none of the 9 common microdeletions, but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications. In 10 cases, the couples had chosen CMA verification, and the results were all consistent. CONCLUSION As a rapid diagnostic technique, BoBs has a high accuracy for common aneuploidies, and is capable of discovering certain chromosome microdeletions and microduplications. The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere