Practice of prenatal diagnosis in the UK

  title={Practice of prenatal diagnosis in the UK},
  author={Fiona Macdonald},
  journal={Clinical Risk},
  pages={218 - 221}
Prenatal testing constitutes a small but important proportionof the workload of genetics laboratories. It is offered towomen whose fetus is at increased risk of a geneticabnormality, enabling parents to make the decision whetherto continue with the pregnancy or facilitate the earliestopportunity for treatment immediately after their baby isborn. In 2006–2007 almost 8000 prenatal tests werecarried out in the regional molecular genetics laboratoriesand 35,000 tests in the cytogenetics… Expand
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
The rapidly evolving technologies are reviewed; application examples are provided; aspects of clinical utility, ethics, and consent are discussed; and the analytic, postanalytic, and professional implications are addressed. Expand
Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathology.
This document summarizes laboratory guidelines for the detection, interpretation, and reporting of maternal cell contamination in prenatal analyses.
S2k-Leitlinie Humangenetische Diagnostik und Genetische Beratung
  • medizinische genetik
  • 2018
Die Fortschritte in der humangenetischen Diagnostik waren Anlass 2011 vier bis dahin entwickelte S1-Leitlinien der Deutschen Gesellschaft für Humangenetik (GfH) und des Berufsverbandes DeutscherExpand


Maternal cell contamination of prenatal samples assessed by QF‐PCR genotyping
To establish the genotype of cultured cells from a cohort of amniotic fluid and chorionic villus samples, and compare this genotype with that obtained from uncultured material from the same sample,Expand