Indian Journal of Genetics and Molecular Research

Introduction: Structural fetal abnormalities occur in approximately 2-3% of all pregnancies, prenatal diagnosis, karyotyping is considered the gold standard because of its greater diagnostic accuracy to identify structural abnormalities and diagnose the most frequent aneuploidies. However loss or gain of genetic material is better studied by other techniques like array comparative genomic hybridization. Aims: To find the incidence and type of abnormal karyotype in foetuses with major congenital malformations detected on prenatal ultrasound. Materials and methods: All the pregnant patients with major congenital anomaly on prenatal test between January 2018 to October 2018 and total 47 patients are included in study. Routine ante natal investigations were done. Results: Abnormal karyotype was found in 28.5% (12/42) of samples. Numerical Abnormalities were seen in 6 patients (Trisomy 21 n=5 Monosmy 1). In our series the commonest anomaly was Trisomy 21 (5/12, 41% of patients). 92.9% with structural neural abnormalities had a normal karyotype. Eleven patients had structural cardiac abnormalities of which 6 (54.5%) had an abnormal karyotype. Fifty percent of patients with renal agenesis and 40% of patients with skeletal abnormalities had abnormal karyotype. Conclusion: Screening test should be done all pregnant patients irrespective of age and risk factors to identify the abnormal karyotype early in pregnancy which is found in significant proportion of foetuses with anomalous finding on prenatal ultrasound.

In the present article, an imperative cytogenetic technique - fluorescence in situ hybridization (FISH) is reviewed- which is a substantial tool of choice for localization of specic nucleic acids sequences in native context. This technology is extensively utilized in genomic and cell biological research as well as for diagnostic applications in various fields. Over the period, several procedures and alterations have been instated to optimize the detection of nucleic acids. It is the definitive standard practice for the detection of chromosomal aberrations. Even though the FISH has high specificity and shows the capability of direct quantitative imaging, certain limitations still masksits systematic practise in diagnostic purposes. To stimulate the widespread use of FISH in diagnostic and clinical practices for these applications, restrictions suchas prolonged assay period and expensive probe consumption is to be addressed. In the study the prime focus is to highlight the selected historical outlooks on FISH, review its contemporary implementations, challenges faced in diagnostic and clinical scenario and to provide a perspective on the future progression.

Aim: The aim of our study was to estimate serum Amylase and serum Lipase levels and to establish a correlation between Lipase/Amylase Ratio in Acute Pancreatitis using lipase and Amylase as enzymatic markers. Study Design: A hospital based cross sectional study was conducted on patients attending the Out patient department of Medicine and those visiting the emergency of SGRRIM & HS Dehradun Uttarakhand for a period of 6 months from April 2017 to September 2017. A total of 130 cases (70 Male & 60 Female) and an equal no. of controls (130) (70 Male & 60 Female) in the age group 20-80 years were selected randomly for the study. Exclusion criteria was age less than 20 years & more than 80 years, acute trauma, Diabetes mellitus, dyslipidaemia, End stage Renal disease etc. Methodology: 5 ml blood was collected in sterile containers form all the 260 subjects and was analyzed for serum Amylase and serum Lipase on fully automated Biochemical Analyzer 5600 of Orthodiagnostics. Results: The mean values of Lipase levels were found to be much higher in male cases (834.83 ± 407.37 ± 47.70) as compared to male controls (97.34 ± 51.71 ± 5.98). Similarly, the mean values of serum Amylase were higher in male cases (233.73 ± 116.69 ± 13.66) than male controls (65.81 ± 24.63 ± 2.85). The Lipase/Amylase ration in male cases was (6.92 ± 3.16 ± 0.37), whereas in male controls it was (1.53 ± 0.71 ± 0.08). Thus the level of Lipase/Amylase ratio is higher in male cases than controls.