Prenatal diagnosis is an effective approach for preventing birth defects and improving population health.Chromosomal karyotyping,sonography,serum screening,fluorescence in situ hybridization,and PCR-based techniques are examples of current prenatal diagnostic technologies.In recent years,the clinical utility of chromosomal microarray analysis (CMA) have been well demonstrated in postnatal genetic diagnosis and it has been recommended as the first tier test for global developmental delay,mental retardation,congenital multiple anomaly,and autism spectrum disorders.CMA is now also being applied to prenatal testing.However,there are still many unresolved issues regarding the proper use of CMA in prenatal testing.The issues include but not limit to the clinical indications for prenatal CMA,interpretation for copy number variations of unknown significance,selection of array platforms,and genetic counseling.These issues should be addressed in order to properly use CMA in prenatal diagnosis.We believe close collaboration from professionals of different disciplines involved in patient care is necessary to help establish the clinical guideline and best practice recommendation for application of CMA in prenatal diagnosis.

Birth defect is increasingly an issue of public health and social concern.Newborn screening is the principal content of 3-tiered system of prevention and control for birth defects in China,which plays an important role in promotion of children's health and welfare.Widespread application of mass spectrometry,esp.,tandem mass spectrometry in newborn screening of inherited metabolic diseases has greatly contributed to the increased detection capability and efficiency.Low and medium throughput molecular diagnostic techniques including PCR,Sanger sequencing,high resolution melting analysis,and multipleligation dependent probe amplification are widely applied in diagnosis and discrimination of inherited metabolic diseases.Application of next generation sequencing in newborn screening is emerging,and will undoubtedly revolutionize the arena of newborn screening in future.However,vigorous validation and performance evaluation are warranted before it's applied in newborn screening for inherited metabolic diseases.

Inherited diseases are characterized with a great variety of clinical entities, complex underlying etiologies, and absence of effective treatment, emerging as one of the significant threats to human′s, esp., the health and wellbeing women and children.It′s long been recognized as a powerful and cost-effective strategy to implement prenatal diagnosis for inherited diseases with an array of advanced molecular diagnostics to reduce the nationwide rate of birth defects.Recently, non-invasive prenatal diagnosis for inherited diseases is increasingly applied in research as well as in clinical practice.Digital PCR is a novel technology characterized with superb sensitivity, high accuracy, and absolute quantitation of DNA, and has demonstrated excellent performance in non-invasive prenatal diagnosis of several hereditary disorders, including spinal muscular atrophy, sickle cell anemia, and hemophilia.It′s believed that digital PCR has more to offer in improving non-invasive prenatal diagnosis of inherited diseases in future.

OBJECTIVE To conduct a retrospective analysis on epidemiological features of syphilis infections(documented) in our hospital.METHODS Patient data archived in an electronic case(history) system of syphilis(infection) were statistically analyzed with a(professional) statistic software package.RESULTS Totally 3 308(outpatient) cases were examined during 2001-2004 period,495 cases were positive in syphilis infection and the(positive) rate was 15.0%.Meanwhile,14 452 inpatient cases were monitored,the number of positive cases and positive rate of syphilis infection were 136 and 0.94%,respectively.The annual rates of syphilis(infection) were(increased) by 38.3%(during) the period of time tested.The percentage of female patients was on increment too on yearly basis.There was a significant difference on the gender distribution of syphilis infection(u=9.06,(P

High-resolution melting analysis ( HRMA/HRM ), a simple, rapid, flexible, inexpensive closed tube approach with high sensitivity and specificity has been one of the most widely used molecular diagnostic techniques in clinicalas well as in research settings .Recently, rapid development ofinstruments , DNA dyes and analysis software significantly enhance the sensitivity , specificity and accuracy of HRM,providing a fast, efficient and economic molecular diagnostic platform for molecular diagnosis of inherited disease , molecular profiling and target therapy of cancer , identification of pathogen , as well as individualized medicine.

Objective To develop a rapid detection method of flow cytometry for antifungal susceptibility testing.Methods The experiment conditions of flow cytometry were optimized and the minimum inhibitory concentrations (M1Cs) of 230 strains of Candida spp to flucytosin,fluconazol,itraconazole,amphotericin B were detected.The MIC results obtained by flow cytometry were compared with M27-A2 reference assay.Results The agreement of MIC results between flow cytometry and M27-A2method was 85.0％ - 100％.Conclusion Flow cytometry can be used as a rapid and reliable method for antifungal susceptibility testing.