Correlation between maternal serum biochemical markers with karyotyping for prenatal screening of foetal chromosomal abnormalities

Background: Prenatal screening for chromosomal abnormalities can be done by biochemical screening tests like dual marker test (DMT), triple marker test (TMT) and quadruple marker test (QMT). It is important to identify ideal screening test among them which best correlates with result of karyotyping which is confirmatory test of foetal chromosomal abnormalities. This helps to decrease need for invasive prenatal tests for foetal karyotyping. This study aims to evaluate sensitivity, specificity, diagnostic accuracy and correlation of DMT, TMT, and QMT with results of karyotyping.Methods: Retrospective observational study was conducted in tertiary care maternity hospital over one year- 1st January 2015 to 31st December 2015. Women with singleton pregnancy undergoing DMT, TMT or QMT were included.Results: Of the 529 women screened by biochemical marker tests, 462 (87.33%) were screen negative and 67 (12.66%) women were screen positive. In 56 women, it was false positive (83.58%) and in 11 women true positive (16.41%). In 461 women the test results were true negative (99.78%), but in one case, result was false negative (0.21%).  3/11 (27.27%)women with foetal chromosomal abnormalities were primigravidae. 4/11 (36.36%)women were below 35 years. DMT and QMT had higher sensitivity (both 100%) and specificity (90.00% and 93.18% respectively) than TMT (sensitivity 80% and specificity 82.61%). Positive likelihood ratio (LR+) was 1.00 in DMT. Diagnostic odds ratio was highest with DMT (DOR=115.11) and best correlated with karyotyping results (coefficient of correlation 0.4).Conclusions: Universal screening of antenatal women, irrespective of their age and parity is suggested. DMT has highest diagnostic value and best correlation with the results of karyotyping. Hence the dual marker test can be considered to be better test for screening for aneuploidy

Coexistence of pheochromocytoma/praganglioma and renal artery stenosis

Renal artery stenosis (RAS) often coexists with pheochromocytoma (Pheo)/paraganglioma (PGL) and often alters the management of patients with Pheo/PGL. We have studied the prevalence of RAS in our Pheo/PGL patients. The study included 70 consecutive, histopathologically proven Pheo/PGL patients from a tertiary health care center. In 60 patients, tumors were limited to adrenal glands (54 unilateral and 6 bilateral) while other 10 patients had extra-adrenal abdominal tumors. Five patients had RAS with an overall prevalence of 14%. Only two out of 60 patients with Pheo had RAS with a low prevalence of 3.3% while three out of 10 patients with extra-adrenal abdominal PGL had RAS with a prevalence of 30%. To conclude, RAS commonly coexists with Pheo/PGL, more often with extra-adrenal PGL