Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

Purpose: The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. Methods: Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. Results: Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. Conclusions: Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis

Linear Systems Description

Introduction The systems approach is a widely used practice in modeling artificial as well as natural phenomena. Each process or sub-process is viewed as an input-output system, as described graphically in Fig.1. This approach is used extensively in engineering, for example in modeling electronic and mechanical systems and in chemical process description. In this chapter we describe this approach and its application to biological systems in general and the nervous system in particular. The systems approach can be used as a modeling tool to comprehend the function of the system and to produce a hypothetical model which can be tested in experiments. It is useful in describing and characterising experimental results, at times by relating the anatomical and physiological properties to the measured variables (see for example the muscle spindle transfer function, Houk 1963). Mathematical modeling of part of the neurological system can be used to study that and other parts by simula