Manoj Mishra

Octaploidy in idiopathic thrombocytopenic purpura

We report a case of an elderly 68-year-old male who presented in our hospital with chief complaints of petechial rashes and ecchymosis over extremities and bleeding from the oral cavity since 3–4 days prior to hospitalization. He saw a physician before coming to our hospital and received one dose of IV methylprednisolone and oral wysolone. He had come to our hospital for further management. Bone marrow karyotyping was done and chromosomal analysis revealed two cell lines. Eighty percent of the cells analyzed revealed apparently normal male karyotype. However, 20% cells analyzed revealed a total of 184 chromosomes, suggesting octaploidy.

Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects

BACKGROUND AND OBJECTIVE: Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario. MATERIALS AND METHODS: A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup. RESULTS: Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals. CONCLUSION: Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.

RAPID FLUORESCENCE-IN-SITU-HYBRIDIZATION (FISH) ON UNCULTURED AMNIOCYTES FOR AVOIDING BIRTH DEFECTS DUE TO COMMON CHROMOSOMAL ABERRATIONS

Background Birth defects are structural or functional abnormalities present at birth that can cause physical or mental disability in new borns. Birth defects can be due to genetic problems caused by mutation in one or more genes, chromosome aneuploidy or environmental factors in women exposed during pregnancy. Objective The aim of the study was to evaluate the effectiveness of the Rapid-Fluorescence-in-Situ-Hybridization (Rapid-FISH) technique in detecting numerical chromosome aberrations of 13, 21, 18, X and Y in amniocyte nuclei from amniotic fluid for avoiding birth defects due to chromosome abnormalities performed on 138 high risk pregnancies. Methods The FISH was performed using AneuVysion kit (Vysis, Inc), according to a standard protocol. Results A total of one hundred thirty eight samples were received for full karyotype and FISH. The average age of mothers and their gestational ages were 33 years and 17.5 weeks respectively. Triple test screening was positive in 52.9% of the women followed by advanced maternal age and ultrasonographic abnormalities. Interphase FISH was performed on seventy eight specimens. All normal and abnormal results were confirmed by classical cytogenetic method (GTG banding and karyotyping). The overall detection rate for aneuploidies through FISH was 100%. Aneuploidy was identified in 5 out of 78 specimens (four cases of trisomy 21 and one case of Turner syndrome) taken for FISH. It was concluded that Rapid-FISH is a reliable and fast method for detecting numerical chromosomal aberrations through prenatal diagnosis and has been implemented as a routine diagnostic procedure in pregnancies with high risk of fetal aneuploidy for avoiding chromosomes 13, 18, 21, X, Y related birth defects.

Effectiveness of Using IVD Certified Platform for Monitoring Minimal Residual Disease in Chronic Myelogenous Leukemia Patient

The appropriate management of hematological disorders must rely on a precise and long-term monitoring of the patients response to chemotherapy and radiotherapy. The presence of residual malignant cells among normal cells is termed minimal residual disease (MRD). Nowadays a great progress has been made in the treatment of malignant diseases and in the development of reliable molecular techniques, which are characterized by high sensitivity and ability to distinguish between normal and malignant cells at diagnosis and during follow-up. Especially, MRD data based on quantitative analysis (RQ-PCR) appear to be crucial for appropriate evaluation of treatment response in CML. Implementation of standardized approaches for MRD assessment into routine molecular diagnostics available in Immunology & Molecular Biology Lab at Indraprastha Apollo Hospital, New Delhi should be regarded nowadays a crucial point in further MRD study. In the present paper, authors have made an attempt to present the benefits of IVD Certified Platform for monitoring MRD in CML patient at the Molecular and Immunology lab, Indraprastha Apollo Hospitals, New Delhi during the year 2007-2008.

Robertsonian Trans Locations—in a Young Couple with Recurrent Miscarriage

Recurrent miscarriage is a cause of concern for not only the pregnant couple but also the treating doctor. Once a couple is faced with this problem, they travel from one physician to the other looking for the cause and a potential remedy. Cytogenetic analysis of the couple forms an import investigation and is not available in many centers. We herewith report a case of Robetsonian translocation in a young couple who has a potential to have a normal child now.