Practice of prenatal diagnosis in the UK

@article{Macdonald2008PracticeOP,
  title={Practice of prenatal diagnosis in the UK},
  author={Fiona Macdonald},
  journal={Clinical Risk},
  year={2008},
  volume={14},
  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
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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

References

SHOWING 1-2 OF 2 REFERENCES
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