Commission rejects mass genetic screening at birth

Screening for heart disease at birth.

As the sensitivity of gold standard has been mentioned as 88%, we calculated the sample size for 80% with a deviation of 5% on either side and the calculations show that sample size in this study is woefully inadequate [2]. Thus the study was inadequately powered to assess the validity of the proposed screening tests. As PPV depends upon prevalence, likelihood ratio is a better measure to overc...

Purulent Bacterial Meningitis at Birth

Meningitis is an acute inflammation of the protective membranes covering the brain and spinal cord, which are known as the meninges. This infection may be caused by Streptococcus pneumonia bacteria. In this study, we presented the case of a female newborn with meningitis secondary to Streptococcus pneumonia. Her birth weight and height were normal. After 24 hours of birth, the neonate was diagn...

Mass-spectrometric approaches for DNA-based genetic screening.

In the current issue of Clinical Chemistry, Braun et al. [1] describe a mutational analysis method that combines primer oligo base extension (PROBE) and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS). This application further extends the use of MS for genetic analysis and suggests a possible role in the clinic. However, what is the long-term potentia...

Panel Rejects Ninth Circuit Split

Genetic and non-genetic factors affecting birth-weight and adult Body Mass Index.

Birthweight affects neonatal mortality and morbidity and has been used as a marker of foetal undernutrition in studies of prenatal effects on adult characteristics. It is potentially influenced by genetic and environmental influences on the mother, and effects of foetal genotype, which is partially derived from the maternal genotype. Interpretations of variation in birthweight and associated ch...