Objective To investigate the value of serological screening combined with fetal aneuploidy prenatal noninvasive DNA test ( NIPT) in prenatal diagnosis ,and provide guidance for reducing the birth of children with genetic defects in the future .Methods A retrospective analysis was conducted in 15282 pregnant women with prenatal counseling who performed serological screening and NIPT test .The high risk and critical TANG recommended NIPT test and severe abnormal karyotype children recommend termination of pregnancy .Results Down syndrome screening results showed that 804 cases of 15,282 cases of serological screening samples were detected in high risk , the high risk rate was 5.26％.A total of 804 patients with high risk of Don screen were further tested with noninvasive DNA,which was positive in 10 cases.Among them,8 cases were confirmed by amniocentesis ,including 5 cases of trisomy 21,1 case of trisomy 18 and 2 cases of sex chromosome abnormality (45,XO in one case and 47,XYY in one case),the consistency was 100.00％.Conclusion Noninvasive gene detection of fetal aneuploidy has the advantages of noninvasive ,safe and accurate .It has a wide range of clinical value in the diagnosis of fetal chromosomal abnormalities .

BACKGROUND: Since the concept of 'minimal identification of poor quality specimens or microbes with low pathogen potential' has been introduced into the standard operating procedure (SOP) to enhance work efficiency, consultations are requested for further species identification and antimicrobial susceptibility testing. The aim of this study was to evaluate the impact of consultations requests to the clinical microbiology laboratory on its work efficiency. METHODS: From January 2013 to April 2015, consultation requests to the laboratory in a tertiary-care hospital were collected from electronic medical records. The characteristics of consultations and changes to workflow due to the laboratory SOP amendment were analyzed. Turnaround time of the consultation and specimen culture were evaluated as an indicator of workflow efficiency. RESULTS: A total of 971 consultations were evaluated during the study period. The most common purposes for consultations were microbe species identification and antimicrobial susceptibility tests. Among the minimal identification reports, the proportions of consultations were below 5%. The number of consultations had increased substantially. However, the turnaround time of consultation and specimen culture showed declining trends. CONCLUSIONS: With the introduction of the consultation system, the workload for species identification and antimicrobial susceptibility testing of colonizing microbes could be minimized. This research provides an example of work efficiency management for laboratory procedures based on an SOP amendment.
Colon ; Electronic Health Records ; Referral and Consultation*

A 60-year-old man presented with a 1-day history of fever, vomiting, and diarrhea. He was diagnosed with severe septic shock on the basis of a body temperature of 38.9degrees C, heart rate of 92/min, respiratory rate of 25/min, WBC count of 22,970/microL, C-reactive protein (CRP) level of 136 mg/L, blood urea nitrogen (BUN) of 34.0 mg/dL, and creatinine of 2.98 mg/dL. On blood culture, Gram-positive cocci were detected in all 6 bottles. Small grayish non-hemolytic colonies were found on blood agar plates after incubation at 37degrees C for 2 days. The isolates were negative for catalase and L-pyrrolidonyl-beta-naphthylamide hydrolysis, and positive for bile-esculin and leucine aminopeptidase activity. The strain was identified as Streptococcus gallolyticus subsp. pasteurianus using Vitek 2 GP II systems. We performed 16S rRNA gene sequencing and detected 100% identity with S. gallolyticus subsp. pasteurianus strain CIP 107122T (1,345/1,345-bp). The patient recovered after receiving ampicillin-sulbactam. This is the first report of phenotypic and genetic identification of S. gallolyticus subsp. pasteurianus causing severe septic shock in a Korean patient.
Agar ; Ampicillin ; Blood Urea Nitrogen ; Body Temperature ; C-Reactive Protein ; Catalase ; Creatinine ; Diarrhea ; Fever ; Genes, rRNA ; Gram-Positive Cocci ; Heart Rate ; Humans ; Hydrolysis ; Leucyl Aminopeptidase ; Middle Aged ; Pyrrolidinones ; Respiratory Rate ; Shock, Septic ; Sprains and Strains ; Streptococcus ; Sulbactam ; Vomiting

BACKGROUND: Diverse microbiota exist in the lower respiratory tract. Although next generation sequencing (NGS) is the most widely used microbiome analysis technique, it is difficult to implement NGS in clinical microbiology laboratories. Therefore, we evaluated the performance of conventional culture methods together with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) in identifying microbiota in bronchoalveolar lavage (BAL) fluid. METHODS: BAL fluid samples (n=27) were obtained from patients undergoing diagnostic bronchoscopy for lung mass evaluation. Bacterial and fungal culture was performed with conventional media used in clinical microbiology laboratories. On an average, 20 isolated colonies were picked from each agar plate and identified by MALDI-TOF MS. Microbiome analysis using 16S rRNA NGS was conducted for comparison. RESULTS: Streptococcus spp. and Neisseria spp. were most frequently cultured from the BAL fluid samples. In two samples, Enterobacteriaceae grew predominantly on MacConkey agar. Actinomyces and Veillonella spp. were commonly identified anaerobes; gut bacteria, such as Lactobacillus, Bifidobacterium, and Clostridium, and fungi were also isolated. NGS revealed more diverse bacterial communities than culture, and Prevotella spp. were mainly identified solely by NGS. Some bacteria, such as Staphylococcus spp., Clostridium spp., and Bifidobacterium spp., were identified solely by culture, indicating that culture may be more sensitive for detecting certain bacteria. CONCLUSIONS: Culture and NGS of BAL fluid samples revealed common bacteria with some different microbial communities. Despite some limitations, culture combined with MALDI-TOF MS might play a complementary role in microbiome analysis using 16S rRNA NGS.
Actinomyces ; Agar ; Bacteria ; Bifidobacterium ; Bronchoalveolar Lavage Fluid* ; Bronchoalveolar Lavage* ; Bronchoscopy ; Clostridium ; Enterobacteriaceae ; Fungi ; Humans ; Lactobacillus ; Lung ; Mass Spectrometry ; Microbiota ; Neisseria ; Prevotella ; Respiratory System ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Staphylococcus ; Streptococcus ; Veillonella