Application of flat-sided culture tubes during prenatal diagnosis / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis.@*METHODS@#From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols. The methods were evaluated by comparing the cell growth, experimental process, quality of chromosome preparation and costs.@*RESULTS@#The success rates for the culturing of CV and AF samples by the flat-sided culture tube method were 97.45% (153/157) and 97.96% (144/147), respectively. By contrast, the success rates for the conventional flask method were 98.72% (155/157) for CV and 98.64% (145/147) for AF samples. No significant difference was found between the two methods (P > 0.05). The average harvest time required by the flat-sided culture tube method was 8.45 days for CV and 9.43 days for AF cultures, whilst the average harvest time for conventional flask method was 9.05 days and 9.54 days, respectively. The flat-sided culture tube method for CV had required significantly shorter average harvest time than the conventional method (P < 0.001). No statistical significant difference was found in the average harvest time for AF by the two methods (P > 0.05). The conventional culturing method had required three containers with two sample transfers. By contrast, the flat-sided culture tube method was carried out in one tube without any sample transfer. The average total amount of medium used was 3.91 mL for each flat-sided culture tube and 6.26 mL for each conventional flask.@*CONCLUSION@#The flat-sided culture tube method can provide a simple, cost-effective and error-reducing procedure for the CV and AF samples culture during prenatal diagnosis.

Genetic analysis of homologous Robertsonian translocation trisomy 21 in 12 pedigrees / 中华围产医学杂志

Objective:To analyze the genetic features of homologous Robertsonian translocation trisomy 21.Methods:This retrospective analysis involved 12 pedigrees in which singleton fetuses were prenatally diagnosed with homologous Robertsonian translocation trisomy 21 [46,XX/XY,+21,der(21;21)(q10;q10)] at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2012 to January 2023. Moreover, karyotype analysis results of the parental peripheral blood were obtained. The prenatal diagnosis results and genetic features in the 12 pedigrees were summarized using descriptive statistical analysis.Results:Among the 12 pedigrees, eight cases were de novo and the other four were maternally inherited. Three mothers in the four inherited cases had homologous Robertsonian translocation trisomy 21 and the other one was a homologous Robertsonian translocation carrier. The karyotypes of the four fathers were all normal. There were three families with multiple children, two of the couples with normal karyotypes had normal children, and the other couple had a child with homologous Robertsonian translocation trisomy 21 that was inherited from the mother with the same type of trisomy 21. Non-invasive prenatal testing was performed in two pedigrees during this pregnancy and the results showed that one case was at low risk and one was at high risk of trisomy 21. Further testing of the placenta after labor induction confirmed the low-risk case with low proportion of mosaic trisomy 21 (the proportion was 21% on the maternal side of the placenta and 9% on the fetal side). Conclusions:Most cases of homologous Robertsonian translocation trisomy 21 are de nove and few are inherited. Parents of probands with homologous Robertsonian translocation trisomy 21 should be routinely advised to undergo peripheral blood chromosome examination to find out whether they are carriers of homologous Robertsonian translocation.

Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies.@*METHODS@#Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis.@*RESULTS@#Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes.@*CONCLUSION@#Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.

Analysis of fetal chromosomal karyotypes in 1 160 pregnant women during the first trimester of gestation / 重庆医学

Objective To evaluate the value of chorionic villus cells karyotype analysis in prenatal diagnosis during the first tri-mester of pregnancy.Methods Pregnant women with prenatal diagnosis indications were punctured by guiding abdominal B-mode ultrasound to get villi tissue which was then to develop cell culture,chromosome preparation and karyotype analysis.Results A to-tal of 1 140 cases were successfully cultured,and the successful cultivating rate was 98.2% (1 140/1 160).Among them,chromo-somes of 62 cases were detected to be non-polymorphic structural abnormalities,including 32 abnormal chromosome number,5 chro-mosome balanced translocation,3 chromosome deletion,and 22 chimeras.What′s more,20 cases were detected to be chromosomal inversion,19 cases of chromosome 9 were inversion,and one with chromosome Y was inversion.Conclusion Karyotype analysis of villus cell could help to detect fetal chromosomal abnormalities during early pregnancy and get early intervention.It was significant to reduce the child′s birth with chromosome abnormalities.

Microporous polysaccharide hemospheres reduce blood loss in total hip arthroplasty / 中国组织工程研究

BACKGROUND:In foreign animal experiments and clinical reports, microporous polysaccharide hemospheres are characterized as good hemostatic effect, no delayed bleeding, good biocompatibility, and no adverse reactions in the body. OBJECTIVE:To assess the efficacy and safety of microporous polysaccharide hemospheres on reducing blood loss after unilateral total hip arthroplasty. METHODS:Totaly 98 patients who received unilateral total hip arthroplasty due to femoral neck fractures, 39 males and 59 females, aged 61-77 years, were randomly divided into two groups: test group, treated with 1g microporous polysaccharide hemospheres before suture of wound; control group, treated with electric coagulation hemostasis before suturing. Drainage tubes were placed in the two groups. Hemoglobin, blood loss, alogeneic transfusion rate, drainage volume, coagulation index and incidence of deep venous thrombosis of the lower limbs were compared. RESULTS AND CONCLUSION:The total blood loss, drainage volume, and transfusion rate in the test group were significantly lower than those in the control group (P < 0.01), but there were no differences in D-dimer, platelet count, activated partial thromboplastin time and international normalized ratio between the two groups. One case of each group developed deep venous thrombosis of the lower limbs, and no significant difference was in the incidence of deep venous thrombosis between the two groups. No infection occurred. These findings indicate that microporous polysaccharide hemospheres that are safe, effective and convenient can reduce the visible and hidden blood loss after unilateral total hip arthroplasty.

Novel review on clinical application of internal locking compression plate fixation in fracture treatment / 中国组织工程研究

OBJECTIVE: To summarize literature on clinic research of locking compression plate (LCP) on fracture of distal radius, proximal humeral fracture, tibia fracture and other fracture.DATA SOURCE: The first author retrieved literatures from PubMed database (http://www.ncbi.nlm.nih.gov/PubMed and CNKI database (www.cnki.net/index.htm) published between June 1992 and May 2009 with the key words of "LCP, Fracture, Therapy,Review".DATA SELECTION: Inclusion criteria: cases undergoing LCP internal fixation; clinical of LCP internal fixation. Repetitive studies were excluded.MAIN OUTCOME MEASURES: A total of 127 literatures were selected and primarily collected by reading titles and abstract. A total of 51 literatures unrelated to study objective, and 35 studies of repetitive contents were excluded. Finally, 41 literatures were included for analysis, containing review, commentary, treatise and clinical report.RESULTS: LCP internal fixation was applied in clinical broadly in recent years. Therapeutic efficacy was significantly better than common internal fixation system. LCP internal fixation depended on minimal invasion LCP internal fixation, with characteristics of small wound, simple operation, stable internal fixation and fracture anatomical reduction. It could replace external fixation to some extents. The stability was bigger compared with the external fixation. However, intramedullary pin fixation should be firstly selected for lower limb cadre fracture. There were few studies on this aspect. Controlled studies should be performed in the future.CONCLUSION: LCP was invented as a new technology which was transition from mechanics of machinery to biomechanics. The method makes good contribution to orthopaedics by advocating elasticity, reducing hurt and promoting callus.