Clinical characteristics and prenatal diagnosis of fetuses with sex chromosomal aneuploidies detected by non-invasive prenatal testing during early and midterm pregnancies / 中华医学遗传学杂志

OBJECTIVE@#To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies.@*METHODS@#The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.@*RESULTS@#The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.@*CONCLUSION@#NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.

Analysis of research hotspot and frontier of severe coronavirus disease 2019: visual analysis based on CiteSpace / 中华危重病急救医学

Objective:To analyze the research hotspot and frontier of severe coronavirus disease 2019 (COVID-19) in China and abroad.Methods:The CiteSpace software was used to visually analyze the relevant research of severe COVID-19 published by CNKI and Web of Science databases from January 30th to April 20th in 2020. The analysis content included the author of the literature, the publishing institutions, and high-frequency keywords.Results:There were 389 Chinese literatures and 59 English literatures included. Analysis using CiteSpace software showed that there were four large teams in China currently concerning about the research on severe COVID-19. The co-authoring of each team was relatively close, but the teams were lack of cooperation. The main issuing institutions were affiliated hospitals of colleges and universities, but colleges and enterprises had less participation. The authors of English-language publications mainly had five research teams, some of whom had co-authored relationships. The country with the most enormous volume of English-language publications was China, followed by the United States and Canada. The Chinese keyword co-occurrence, clustering and highlighted words analysis showed that the main research areas of severe COVID-19 included clinical features, traditional Chinese medicine treatment, medical imaging, integrated traditional Chinese and Western medicine treatment and so on; nucleic acid detection, clinical features and diagnosis, plague theory and etiology mechanism, traditional Chinese medicine and integrated Chinese and Western medicine treatment, severe COVID-19 combined with diabetes and prognosis research will become future research trends; keyword cluster analysis showed that severe COVID-19, combined chronic underlying diseases, CT imaging characteristics will also become new trends in the field of research. Co-occurrence analysis of keywords in English literatures showed that the main research areas of severe COVID-19 included the names of novel coronavirus, pandemic diseases, infectious diseases, medical supplies distribution, and indicators related to myocardial damage.Conclusions:Researchers in China and abroad have different concerns about severe COVID-19. Domestic research focuses on the diagnosis and treatment of severe cases, while foreign countries attach importance to epidemic response and prevention.

Analysis of hematological characteristics of patient with different genotypes in lightβ-thalassemia / 实用医学杂志

Objective To investigate the hematological characteristics of patients with light β- thalassae-mia and rapidly identify different mutational genotypes. Methods RBC、Hb、MCV、MCH、MCHC、RDW-CV and HbA2 were studied in the 646 patients,the differences between β0/βN and β +/βN mutations were also compared. Results Most of them were microcytic hypochromic anemia. The most common genotype were β654/βN(33%)、β41-42/βN(32.5%)、β17/βN(14.4%)、β - 28/βN(10%)respectively,β0/βN were relatively higher. The differences in RBC、MCV、MCH、RDW-CV and HbA2 were significant between β0/βN and β +/βN. Compared with β +/βN patients,the MCV and MCH of β0/βN were significantly reduced,RDW-CV and HbA2 were significantly higher. Conclusion Light β- thalassaemia with different genotypes has its own unique hematological features and can be quickly and ef-fectively identified. Clinical efficiency can be improved through hematological analysis.

Study of the anemia status and genotype of thalassemia in preschool children in Shenzhen / 实用医学杂志

Objective To study the anemia status and genotype of thalassemia in preschool children in Shenzhen. Methods 658 preschool with anemia hospitalized in Shenzhen Longgang Maternal and Child Health Hospital from October 2012 to September 2015 were screened by complete blood analysis . The most common mutations of thalassemia genotype (17 β thalassemia genotype mutation,3 α thalassemia genotype mutation and 3α thalassemia genotype absence change) in Chinese population were detected. Results All cases have microcytic hypochromic anemia. 426 cases were identified to be thalassemia (64.7%). 23 genotypes and 13 gene mutation type were detected. The most common genotype type were SEA/αα(46%),β654/βN(15%),β41?42/βN(12.7%). And the most common allele gene mutation type were SEA (49.1%),IVS?Ⅱ?654( C→T)(14.4%),CD41?42(?TTCT)(12.4%) re?spectively. MCV and MCH of thalassemia children was significantly lower than that of children diagnosed as without thalassemia. The differences of RBC,Hb,MCV,MCH,MCHC,RBC?SD between the two groups were statistical?ly significant. Conclusion The proportion of thalassemia among preschool anemia children in Shenzhen area was high,and it is necessary to strengthen the local thalassemia prevention and decrease anemia effect on preschool children′s health.

Prenatal diagnosis of unbalanced reciprocal translocations at the second trimester / 实用医学杂志

Objective To explore the distribution of prenatal indications , clinical features and pregnant outcomes of chromosomal unbalanced reciprocal translocations atthe second trimester. Methods The data on 35 fetuses with unbalanced reciprocal translocations between May 2011 and March 2016 were retrospectively analyzed and reviewed. Results Of 35 fetuses with unbalanced translocations , 29 (82.86%) showed ultrasound abnormalities,and 6 (17.14%) had no significant clinical features. 8 were de novo, and the other 27 were parental inherited. All the 35 women had to terminate the pregnancy. Conclusions Ultrasound abnormalities are associated with chromosomal unbalanced reciprocal translocations at the second trimester , and most unbalanced translocations fetuses origin from parental carrier of balanced translocations.

Analysis of balanced translocation at amniocentesis on prenatal diagnosis / 实用医学杂志

Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.