Pharmacogenomics is the study of an individual's interaction with a specific drug based upon the genetic make-up of the individual. Pharmacogenomic testing can be a powerful tool in testing a drug's potential efficacy and toxicity on an individual patient. For this tool to be used correctly, certain criteria have to be met. First and foremost is the strength of association between the genetic v...

Identifying pregnancies at increased risk for aneuploidy has been a part of the practice of maternal–fetal medicine for several decades. Originally, women were identified based on maternal age alone and given the option of diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to determine the fetal karyotype. Recently, maternal serum screening tests, with or without ultrasound...

Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...

In education, it is important that students are not put in a position in which they are forced to participate in animal experiments or to use dead animals, killed especially for such purposes. Continued use of animal experiments to demonstrate known facts or teach skills which can be taught using non-animal methods evidences only a lack of sensitivity towards students who still maintain respect...

The 1998 Workshop on Retinal Gene Therapy evaluated the potential of gene therapy in treatment of retinal disease. Academic, industry, and private foundation representatives attended. Topics included: determing which retinal diseases are likely candidates for gene therapy, specific retinal degenerations and nonspecific neuronal survival mechanisms, design and use of viral and retroviral vectors...

OBJECTIVE Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT) in the general pregnancy population. METHODS Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA) analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, tri...

Recent advances in genomic sequencing and bioinformatics have led to the development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS) [1, 2]. Recently, a novel prenatal testing method has become available. This method, known as noninvasive prenatal testing (NIPT), is a molecular approach for assessing fetal a...