[HTML][HTML] Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment …

SC Robson, LS Chitty, S Morris, T Verhoef, G Ambler… - 2017 - europepmc.org
Background Current pathways for testing fetuses at increased risk of a chromosomal
anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy …

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

MJ Dorsey, CC Dvorak, MJ Cowan, JM Puck - Journal of Allergy and …, 2017 - Elsevier
Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell
development and is fatal without treatment. Newborn screening (NBS) for SCID permits …

[HTML][HTML] Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot

L Moody, L Atkinson, I Kehal, JR Bonham - BMC pediatrics, 2017 - Springer
Background With further expansion of the number of conditions for which newborn
screening can be undertaken, it is timely to consider the impact of positive screening results …

An evaluation of pregnant women's knowledge and attitudes about newborn bloodspot screening

C Fitzgerald, E Heery, N Conneally, B Linnane… - Midwifery, 2017 - Elsevier
Objectives research suggests that information provided to parents about newborn bloodspot
screening (NBS) can be inconsistent. The majority of international NBS programmes …

[PDF][PDF] Efficacy and Mechanism Evaluation

SC Robson, LS Chitty, S Morris, T Verhoef… - Evaluation of Array …, 2017 - academia.edu
Abstract Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of
fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient …