Genetic counseling: Non-Invasive Prenatal Diagnosis

Submitted: Monday 26th of July 2010 05:36:29 PM
Submitted by: egf
Language: English
Educational levels: qc1, qc2, qc3



This resource contains materials from advanced courses of genetic counseling. It is especially focused on non-Invasive Prenatal Diagnosis.


After 15 years of research finally the possibility of obtaining a prenatal diagnosis of some genetic conditions from fetal material in the maternal circulation has become a clinical reality. Already more than 50 years ago pathologists had observed what they believed to be trophoblast cells in the pe ...
A presentation for a workshop on non-invasive prenatal diagnosis for thalassaemia using the ThalassoChip, a novel diagnostic tool which makes use of APEX (Arrayed Primer Extension) technology.
A presentation on a non-invasive diagnostic assay for the detection of β-thalassaemia from maternal plasma using APEX (Arrayed Primer Extension) technology.
This presentation describes the approach of analysis and detection of SNPs and mutations for non-invasive prenatal diagnosis, and the improvement of specificity of the technique

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