1.Amniotic cell karyotyping in pregnant women with a history of abnormal pregnancy
Jie FU ; Jingmei MA ; Li YU ; Hong PAN ; Huixia YANG
Chinese Journal of Perinatal Medicine 2014;(12):809-812
Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking University First Hospital from January 4, 2005 to December 31, 2013 were analyzed. According to the etiology of their previous abnormal pregnancy, these women were divided into four groups: 273 women had children with inherited metabolic disorders or single-gene genetic diseases (group A), 81 women had children or fetuses with chromosome abnormalities (group B), eight cases had an abnormal chromosomal karyotype in either husband or wife (group C), and 833 women had abnormal pregnancy of unknown causes(group D). Results Forty-eight [4.0%(48/1 193)] and fetuses were found to have abnormal chromosomal karyotypes, including 26 cases of chromosome polymorphism variations and 22 cases of numerical and structural abnormalities (four cases of trisomy 21, four cases of numerical sex chromosome abnormalities, three cases of trisomy 18, three cases of extra small chromosome mosaicism, three cases of reciprocal translocation, one case of Robertsonian translocation, one case of chromosome six inversion between the arms, one case of chromosome three inversion between the arms, one case of mosaicism of trisomy 14 and one case of structural abnormality of chromosome 14). In group A, four cases (1.5%) of chromosomal abnormalities of clinical significance and four cases of chromosome polymorphism variations were detected. Meanwhile, 61 fetuses with inherited metabolic disorders or single-gene genetic diseases and two cases of gene mutation carriers were detected in group A, but among whom, there were no abnormal chromosome karyotype cases. In group B, two cases (2.5%) of chromosomal abnormalities were found. In group C, two cases (2/8) of reciprocal translocation were found, whose karyotypes were the same as the parents. In group D, three cases of trisomy 21, three cases of trisomy 18, two cases of extra small chromosome mosaicism and two cases of numerical sex chromosome abnormalities were found. All the mothers in this group were of advanced age. Four cases of structural abnormalities and 22 cases of chromosome polymorphism variations were also found in this group, chromosomal analysis was subsequently performed in those couples, and found that the abnormal chromosomal karyotypes in the fetuses were the same as those in the parents. Conclusions Appropriate prenatal cell genetic diagnostic methods should be chosen according to the causes of abnormal pregnancy history.
2.Prenatal diagnosis of single gene disorders and role of multidisciplinary cooperative mode
Jingmei MA ; Hong PAN ; Jie FU ; Li YU ; Ling WANG ; Hui FENG ; Huixia YANG
Chinese Journal of Perinatal Medicine 2015;18(3):176-181
Objective To evaluate the trend in prenatal diagnosis of single gene disorders (SGD) and role ofmultidisciplinary cooperative mode.Methods In January l,2012,amultidisciplinarycooperativemode for SGD diagnosis was established in the Peking University First Hospital,involving Departments of Obstetrics,Pediatrics,Neurology,Dermatology and Central Laboratory.For each pregnant woman with a family history of SGD for prenatal diagnosis,propositus should be diagnosed in the relevant departments,and then further diagnosed,managed and followed up by the Obstetrics Department.Up to December 31,2014,of 6 681 women for prenatal diagnosis,279 women had a family history of SGD:76 of them received chorionic villus sampling (CVS) at 11-14 gestational weeks,and 203 received amniocentesis (AC) at 16-22 gestational weeks.The trend in SGD diagnosis and the safety of CVS and AC were analyzed using Chi-square test.Results The proportion of SGD family history in AC group was 3.2% (203/6 355),which stayed stable with 2.3% (47/2 054) in 2012,3.9% (78/2 023) in 2013 and 3.4% (78/2 278) in 2014,and there was no significant difference between 2013 and 2014 (x2=0.571,P=0.463).In CVS group,the proportion of SGD family history was 23.3% (76/326),showing an increasing trend with 18.2% (8/44) in 2012,17.6% (19/108) in 2013 and 28.2% (49/174) in 2014,and there were significant differences between 2013 and 2014 (x2=4.067,P=0.046).The proportion of SGD family history in CVS group was higher than in AC group in year 2012,2013 and 2014 (x2=42.626,44.531 and 201.400,all P=0.000).Among the 279 cases of SGD family history,no complications and adverse outcome were observed except an intra-uterine fetal death occurring 6 months after CVS in one woman,but 3 fetuses were found to have chromosome anomalies with one trisomy 18,one 45,X,and one mosaicism of 45,X/46,XY which was determined to be normal by AC.Conclusions SGD family history is one of the important indicators in prenatal diagnosis,and CVS is feasible for prenatal diagnosis of SGD family history as early as in the first trimester.Multidisciplinary cooperative mode is helpful in SGD family history diagnosis.
3.Correlation between chromosome deletion and phenotypes in two cases of ring chromosome 6 syndrome
Jie FU ; Songtao WANG ; Hong PAN ; Jingmei MA ; Li YU ; Huixia YANG
Chinese Journal of Perinatal Medicine 2014;17(11):724-728
Objective To understand the correlation between chromosome deletion and the phenotypes in cases of ring chromosome 6 syndrome.Methods Two cases of ring chromosome 6 syndrome persented to the Peking University First Hospital in 2013 were studied.Case 1 was a fetus diagnosed as having ring chromosome 6 with karyotype 46,XY,r (6) [14]/46,XY,r (6; 6) [1]/45,XY,-6[15] from a pregnant woman who received prenatal examination because of high risk found in serum screening for Down's syndrome at 21 +1 weeks of gestation.Case 2 was an eight-month-old female infant with growth retardation and congenital facial anomaly,whose karyotype was 46,XX,r (6) /47,XX,r (6) × 2/46,XX,r (6; 6) /45,XX,-6.Multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization were used to detect the location of chromosome telomeric loss and its size,and the correlation between chromosome deletion and the phenotypes was analyzed by reviewing related literatures.Results Case 1 was confirmed to have short-arm terminal deletions on 6p25.3-25.2 (2.42 Mb) which mainly included DUSP22,IRF4,EXOC2,FOXC1,FOXF2 and FOXQ genes,and long-arm terminal deletions on 6q26-27 (7.84 Mb) mainly included PARK2,PACRG,LOC28596 and RPS6KA2 genes.Case 2 had short-arm terminal deletions on 6p25.3-25.1 (5.44 Mb) which included DUSP22,IRF4,EXOC2,FOXC1,FOXF2,FOXQ and SERPINB6 genes,and long-arm terminal deletions on 6q27 (0.16 Mb) which included PSMB1,TBP and PDCD2 genes.Except for the growth retardation,the common feature of ring syndrome,in both cases,cerebellum hypoplasia was observed in case 1,and microcephaly and esotropia were observed in case 2.Conclusions The difference of phenotypes in patients with a ring chromosome 6 is closely associated with the location and size of the deletion in chromosome 6.
4.Preparation of a deactivation vaccine against Aeromonas hydrophila and research about its immue effect in the north of Henan
Jianyi GUAN ; Huili MAO ; Wenxu HE ; Limin YANG ; Yundong FU ; Jingmei ZHANG ; Jiajing WU ; Qianji NING
Chinese Journal of Immunology 2015;(11):1501-1504
Objective:Selected virulence factors more than and high virulent Aeromonas hydrophia strain made into inactivated vaccine,to study the immunization effect of inactivated vaccine.Methods:Crucian were vaccinated with formalin-killed vaccine via in-traperitoneal injection.Controls were injected with the same volumes of saline.Then the antibody titres, histopathology and relative percent survival were analyzed from samples of both groups.Results: The antibody in the indirect agglutination reaction could be detected in vaccinated fish once a weeks after immunization and reached highest level 6 weeks after immunization.The histopathology analysis indicated that the vaccine had a good protective effect on crucian target organs.Vaccinated fish showed 100%relative percent survival and the immune period would be 6 month.Conclusion:The vaccine in this study has a significant protective effect on crucian and may be used as effective fish vaccines against bacterial septicemia.
5.Feasibility of rapid prenatal diagnosis in advanced maternal age women
Jingmei MA ; Hong PAN ; Jie FU ; Li YU ; Ling WANG ; Huixia YANG
Chinese Journal of Perinatal Medicine 2014;17(4):240-243
Objective To analyze the feasibility of rapid prenatal diagnosis in the advanced maternal age women with or without positive serologic screening results.Methods We conducted a retrospective study of the women who underwent a mid-trimester amniocentesis in Peking University First Hospital from January 1,2001 to December 31,2012.Maternal age,indication for invasive prenatal diagnosis,karyotyping and pregnancy outcome were documented.Using a young population with high risk in serologic screening (S) as the standard,chromosome abnormalities in the advanced maternal age (A) group and the advanced maternal age with high risk in serologic screening (A+S) group were compared with the S group.Chromosome abnormalities were divided into detectable (D) and undetectable (U) during rapid prenatal diagnosis.Results Of 9 606 cases,222 (2.3%,222/9 606) cases with chromosome abnormalities were detected,23.0% (51/222) of which were undetectable by rapid prenatal diagnosis.The detection rate of detectable chromosome abnormalities was 1.8% (57/3 177) in group A,1.4%(13/925) in group A+S,and 1.8%(57/3 250) in group S (x2=0.662,P>0.05).The rate of undetectable chromosome abnormalities was 0.5% (15/3 177) in group A,0.3% (3/925) in group A+S,and 0.5% (16/3 250) in group S (x2=0.452,P>0.05).The most common indications for undetectable chromosome abnormalities in the young population were abnormal history of pregnancy,abnormal family history and chromosome abnormality history (16.4%,9/55),and abnormal ultrasound in the advanced maternal age population (4.4%,3/68).Conclusions The performance of rapid prenatal diagnosis in the advanced maternal age population with or without high risk in screening without abnormal findings in ultrasound,was similar to the young population with high risk in screening.Fluorescent in situ hybridization may be integrated into the strategy of prenatal diagnosis for this group of women.
6.Fluorescence in situ hybridization and aminocytes karyotyping for 1809 aminotic cells assay
Li YU ; Jie FU ; Jingmei MA ; Chang LI ; Hong PAN ; Huixia YANG
Chinese Journal of Laboratory Medicine 2014;(5):342-346
Objective To analyze the clinical application of fluorescence in situ hybridization ( FISH) and karyotype analysis in prenatal diagnosis of chromosomal abnormalities .Methods The prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes (chromosome 13,18, 21,X,Y) in interphase amniocytes of 1 809 pregnant women of 17-38 weeks of gestational age was used , comparisons with the karyotyping results was done simultaneously.All the 1 809 cases came from Peking University First Hospital from July 1,2012 to December 31,2013, and the relevant clinical data and birth follow-up information were collected.Results All the 1 809 cases had been successfully examined by FISH , including 1 767 normal cases and 42 cases of numerical abnormality (39 cases of aneuploid, 1 case of triploid and 2 cases of mosaicism),which were consistent with the karyotyping analysis .What′s more,34 cases of chromosomal structural abnormalities , 5 cases of chimera and 12 cases of normal variant were failed to detected by FISH.Conclusion With the advantages of high-speed,simplicity,high accuracy,etc,FISH can be an effective tool in clinical applications , and had great significances in cytogenetic prenatal diagnosis combined with karyotyping analysis.
7.Clinical predication value of the ischemia modified albumin for acute coronary syndrome patients after the percutaneous coronary intervention
Min AI ; Qinghua ZHANG ; Changfu YAN ; Fuchun XIA ; Shuanglu ZHOU ; Jian HE ; Dingping GU ; Guoqi FU ; Kuan ZHANG ; Jun JIANG ; Tao LI ; Jingmei YANG
Journal of Chinese Physician 2012;(10):1297-1299
Objective Exploring clinical prediction value of the ischemia modified albumin (IMA) for acute coronary syndrome (ACS) patients after the percutaneous coronary intervention (PCI).Methods A total of 109 cases of the PCI postoperative patients of ACS at the Panggang General Hospital from January 2010 to July 2012 were included.IMA was determined within 6 hours after admission,and standardized treatment after PCI.After a 6-month follow-up,they were divided into the event group and non-event group according to cardiovascular events occurrence.Results 101 cases were followed-up,including 26 cases of cardiovascular events (25.74%) and 75 cases of no cardiovascular events (74.26%).The left ventricular ejection fraction of the event group [(45 ± 7)%] was significantly lower than the non-event group [(52 ± 10) %] (t =1.894,P < 0.05).Serum IMA of the event group[(105.51 ± 13.26) U/ml]was significantly higher than the non-event group [(85.18 ± 11.36) U/ml] (t =7.3518,P <0.01).After controlling other cardiovascular risk factors,IMA was still independent risk factors for cardiovascular events (OR =1.69,95% CI: 1.18 ~ 2.13,P =0.01).Conclusions IMA have very good clinical prediction value of cardiovascular events occurrence for ACS after PCI.
8.The effects of observing good swallowing on the swallowing ability of stroke survivors
Ming ZENG ; Jingmei MA ; Xudong GU ; Yunhai YAO ; Meihong ZHU ; Minmin JIN ; Meixia YANG ; Bihua ZHU ; Fang SHEN ; Shuzhen HU ; Jianming FU
Chinese Journal of Physical Medicine and Rehabilitation 2021;43(2):116-121
Objective:To observe the effect of observing good swallowing on the swallowing action of stroke survivors with dysphagia.Methods:Eighteen stroke survivors with dysphagia were randomly divided into a treatment group ( n=9) and a control group ( n=9). In addition to routine swallowing rehabilitation therapy, the treatment group was asked to simulate swallowing after watching a video of normal people′s swallowing action. They did so 5 times a week for 10 minutes, while the control group just watched landscape videos at the same time. The treatment lasted 8 weeks. Before and after the treatment, both groups were assessed using the eating assessment tool (EAT-10), the functional oral intake scale (FOIS) and the penetration and aspiration scale (PAS). Functional magnetic resonance imaging (fMRI) was also used to observe their swallowing action. Results:There was no significant difference between the two groups in any of the measurements before the treatment. After the 8 weeks of treatment the average EAT-10, FOIS and PAS scores of the treatment group were all significantly better than before the treatment and better than the control group′s averages at the time. fMRI showed significantly more areas activated in the precuneus, parietal lobe, posterior central gyrus, BA7, BA5, frontal lobe and paracentral lobule in the treatment group compared with before the intervention and also more than in the control group.Conclusions:Observing proper swallowing action can improve dysphagia and activation of the swallowing-related brain areas of stroke survivors.
9.Efficacy and safety of modified Atkins diet in children with global developmental delay: a multicenter clinical study
Yiwen WANG ; Dengna ZHU ; Na MA ; Zhenjun SU ; Shuming YANG ; Shunyi SONG ; Jingmei FU ; Haitao WANG ; Juan LIU ; Tao ZHANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(12):929-933
Objective:To evaluate the efficacy and safety of modified Atkins diet (MAD) in treating global growth retardation (GDD).Methods:A prospective multicenter clinical controlled study was conducted.The children were included from 8 departments of children′s rehabilitation in Henan Province from July 2017 to October 2017.A total of 154 children who met the inclusion criteria were randomly assigned into the routine treatment group (88 cases) and MAD therapy group (66 cases). A total of 62 children in MAD therapy group and 59 children in routine treatment group completed the study for 15 months.The routine treatment group was provided comprehensive rehabilitation training, and the MAD therapy group was given MAD treatment on the basis of rehabilitation training.Two-way repeated-measures ANOVA was used to compare the differences among datas at different time points. Results:After 3 months, there were significant differences in the scores of the Chinese Version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Children′s Behavior Scale (CBCL) between the 2 groups (all P<0.05). Significant improvement was seen in the MAD group.After 6 months, the MAD therapy group had significantly higher scores on the Gesell Developmental Scale for language and social behavior than the routine treatment group (all P<0.05). After 9 months, the scores of the children in the MAD therapy group were better than those in the routine treatment group in the Gesell Developmental Scale adaptive energy area and the infant-junior high school student social life scale (S-M scale), and the differences were statistically significant (all P<0.05). After 15 months, the fine motor in the MAD therapy group was better than that in the routine treatment group ( P<0.05). At the early stage of MAD therapy, 28 patients showed mild adverse reactions that were reversed after symptomatic treatment.No severe adverse reactions were observed. Conclusions:MAD therapy can improve the neuro-development, emotional and social behaviors, and adaptive behaviors with no severe adverse effects.
10. Indications of percutaneous umbilical cord blood sampling in prenatal diagnosis
Huijing ZHANG ; Shuxian WANG ; Huixia YANG ; Yu SUN ; Xiao SUN ; Junya CHEN ; Xiaoxiao ZHANG ; Jie FU ; Li YU ; Hong PAN ; Jingmei MA
Chinese Journal of Perinatal Medicine 2019;22(12):838-843
Objective:
To investigate the tendency and safety of percutaneous umbilical cord blood sampling (PUBS) in prenatal screening and diagnosis, and the possibilities of avoiding unnecessary PUBS.
Methods:
This was a retrospective study of pregnant women who underwent PUBS for prenatal diagnosis in Peking University First Hospital from January 2015 to December 2017. Clinical indications, timing of PUBS, further investigations (chromosome karyotype, molecular genetics and pathogen testing), results, and pregnancy outcomes were collected and analyzed. One-way analysis of variance (ANOVA),