14 research outputs found
Utility of GeneXpert Mycobacterium tuberculosis/Rifampin Assay for Extrapulmonary Tuberculosis Samples
No full textEvaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India
Get PDFBackground: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.</jats:p
Review of Undergraduate Medical Students toward Biomedical Research
Get PDFResearch methodology is an essential section within the medical curriculum of undergraduate (UG) medical students. Correct information and extensive knowledge about biomedical research will definitely enhance their decision-making abilities in biomedical profession. This work was performed to assess the range of recognition about biomedical research among UG medical students. This work involved participation of 110 UG students. A self-administered questionnaire was formulated to gather information concerning the awareness among the study participants about biomedical research. An independent institutional ethical approval was obtained before the commencement of the study. A total of 110 students answered the study questionnaire from second, third and final year. Majority of study participants (95%) remarked that medical research is helpful in their biomedical practice, and that research methodology should be extensively incorporated in study curriculum. Many study participants (94%) realized that different research activities assist them in improved understanding of their subject. Whereas 92% noted that research is essential for updating their knowledge in clinical field, a mere 15% participated in research activities while many participants were oblivious of funding agencies in biomedical research. Crucial factor for poor research was the absence of motivation (29%) followed by biomedical research being less important section in their curriculum (18%). Active involvement of research-based methodologies in the curriculum of UG medical students may stimulate the future batches of physicians to take up biomedical research.
Fetal Triploidy Syndrome: a case report from Global Reference Laboratory, Mumbai, India
Get PDFTriploidy is a complete extra set of chromosomes. In the current case report, we present the case of a 29-year-old pregnant female who was referred to Department of Genetics, Metropolis Healthcare Ltd, Mumbai. Real-time sonography of the gravid uterus was done using a 3C RS multi-frequency probe. Placenta was observed to be posterior. The findings were suggestive of a single viable foetus with an average gestational age of 14.6 weeks at 14-15 weeks of pregnancy and only mild placental thickening at 17-18 weeks of pregnancy was detected on Ultrasound at the time of Amniocentesis. The fetal chromosomal study on amniotic fluid by Fluoroscence insitu hybridization (FISH) revealed trisomy status for chromosome 13, 18, 21, X and Y in 100% of the cells analysed and the fetal karyotype revealed a presence of extra set of chromosomes (69) in all the analysed cells. Parental blood karyotype was done for checking cytogenetic abnormality or variations. FISH studies with POC specimen revealed Trisomy status for chromosomes 13, 18, 21 and presence of extra Sex chromosome (XXY) in all cells analysed.</jats:p
Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory
No full textLoss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients, and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.</jats:p
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome
No full textInstability of the heterochromatic centromeric regions of chromosomes 1 associated with immunodeficiency was found in a 3 and half months old girl. The case was referred to Department of Genetics, Global Reference Laboratory, Metropolis Healthcare Ltd, Mumbai with the suspicion of Downs Syndrome for chromosomal karyotyping. This patient had facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1 and homologous and non-homologous associations of these regions were the most common cytogenetic findings in this patient. Multi-branched configurations and whole arm deletions of chromosomes 1 were also found. Comparing clinical and chromosomal data we conclude that the patient was suffering from immunodeficiency, centromeric heterochromatin instability and facial syndrome. The chromosomal karyotyping report was showing instability around vicinity of chromosome 1 and various abnormalities around vicinity of both chromosomes 1 were found in form of random breakages of chromosome 1, fragile sites, deletions/duplications of small and long arm, extra copies of chromosome 1 with rosette formations, exchange of arms and partial aneuploidies of chromosome 1. Further, the investigations regarding the immune status revealed that the level of IgM (5.98 mg/dl), IgA (<6.16mg/dl) and IgG (92.10 mg/dl) subgroup of immunoglobulin was very low. The results were consistent with The Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome. Second sample from the patient for molecular studies could not be collected and performed since the patient failed to survive after 3 and half months.</jats:p
Frequency of down syndrome: an experience of a tertiary care diagnostic laboratory in India
No full textBackground: Down syndrome or Trisomy 21 is a genetic condition involving the presence of extra copy of chromosome 21. It is the most common chromosomal abnormality within paediatric age group. The objective of our study was to determine the frequency of Down syndrome and its various cytogenetic types in cases with clinical suspicion of Down syndrome received at the Department of Cytogenetics, Metropolis Healthcare Limited, Mumbai, India.Methods: Our study was performed on peripheral blood (2-3 ml) collected in Sodium Heparin Vacutainers obtained from 714 patients with clinical suspicion of Down syndrome. All the samples were requested for GTG staining and banding, while the cultures were set and analysed by GTG–banding at 450-550 band level. The period of our study was from January-2015 to December-2016.Results: Out of 714 samples referred, about 657 showed trisomy of chromosome 21. While, out of 657 cases, 551 (83.87%) cases were detected with free trisomy, Robertsonian translocation in 52 cases (7.91%), Mosaic pattern in 16 cases (2.44%). Our study also recorded trisomy with additional polymorphic variation in 35 cases (5.33%) and 3 cases (0.46%) with additional abnormality.Conclusions: According to the extensive literature available which states that the clinical diagnosis of Down syndrome is relatively easy, it is the pattern of chromosomal aberration that is extremely important. Identification of this pattern will assist in the estimation of the possibility of recurrence risk while counselling the parents. Overall, it will benefit the couple to arrive at an informed decision and will eventually minimize the frequency of disease in the society. Moreover, it will also assist the close blood relatives to know their risk of having baby with Down syndrome. It is to be noted that since the study was performed in a tertiary care laboratory, the percentage of cytogenetic.</jats:p
Frequency of turner syndrome: findings from a tertiary healthcare diagnostic laboratory of India
No full textBackground: Turner syndrome (TS) is the most common chromosomal abnormality reported in the females. Objective of this retrospective study was to determine the frequency of turner Syndrome and its various cytogenetic types in samples suspected to be of turner syndrome, received in the Department of Cytogenetics, Metropolis Healthcare laboratory, Mumbai, Maharashtra, India. Methods: The current study was performed on 935 clinically suspected samples with Turner Syndrome within the age group of 01-16 years. Peripheral blood (2-3 ml) in Sodium heparin Vacutainers was collected from all the patients, the cultures were set & analysed by GTG–banding at 450-550 band level Results were reported as per the guidelines of the International System for Human Cytogenomic Nomenclature (ISCN) and The College of American Pathologists (CAP) and National Accreditation Board for Testing and Calibration Laboratories (NABL).Results: In our study, out of the total 935 samples referred to Metropolis Healthcare Ltd, about 348 had cytogenetically turner or Turner variant findings. Further, out of 348 cases, 69 cases were detected to have presence of single X chromosome (19.83%), mosaic pattern in 116 cases (33.33%), presence of Y chromosome in 63 cases (18.10%) polymorphic variation in 58 cases (16.67%), presence of only isochromosome Xq in 9 cases (2.59%) and 33 cases (9.48%) with other or additional abnormalities. Conclusions: The cytogenetic confirmation and pattern of chromosomal aberration is very important as early detection may help to improve the quality of life especially in patients with cytogenetically Turner variant pattern with presence of Y chromosome. </jats:p
