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Non invasive prenatal diagnosis
Spain (IFMSA-SPAIN)-University of Pais Vasco, Pais Vasco
Genetics Unit, Universitary Hospital Basurto
Maria Garcia Barcina
Esther Sarasola Diez, Beatriz Barrena, Maria Garcia Barcina
English, French, Spanish
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
The WHO defines prenatal diagnosis as the detection in the fetus of any congenital defect which affects 2-3% of all newborns. Genetic prenatal diagnostic gold standard is invasive (chorionic villus sampling or Amniocentesis). There is a small but significant risk to pregnancy (0.5-1% miscarriage for amniocentesis and 1,5-3% for CVS). The percentage seems small, but its impact is huge (10000 miscarriages per year in Europe). This procedure is sometimes complemented by a Triple Screening (Biochemical tests plus an Ecography) that advises about the risk and whether or not to take the invasive test. The non invasive prenatal diagnosis (NIPD) is based on the detection of fetal DNA in mother’s blood/plasma. Nevertheless, these novel techniques are not clinically validated for disease detection, and they have been only used for prenatal disease diagnostic in research/expert centres due to their complexity and cost for the extraction and detection
What is the aim of the project?
This project proposes to combine consortium partner´s knowledge of fetal on tube diagnostics and LabonaChip systems to extend the use of non invasive prental diagnosis techniques to all pregnancies. The use of LabonaChip products together with the savings produced by the retirement of the massive use of invasive techniques will make them affordable. To substitute complex invasive prenatal diagnosis based on risky sample extraction procedures and costly genetic analysisfor Micro Nano Bio Systems (MNBS) that detect fetal diseases from mother´s blood/plasma. In addition, to substitute a very risky invasive procedure for the live of the fetus with an automated, simple and accurate non-invasive prenatal diagnosis with absolutely no risk for the fetus.
What techniques and methods are used?
DNA extraction, PCR, Q-PCR, sequencing, MLPA, FISH, a-CGH
What is the role of the student?
- The student will mainly observe
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
Knowing of the technicals and methodology used during this period.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Preliminary readings and lectures
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- No specific outcome is expected
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
We prefer students after the third year.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Students in biomedical fields
- Avent ND
- Plummer ZE
- Soothill PW (2008). Post-genomics studies and their application to non-invasive prenatal diagnosis. Semin. Fetal Neonatal Med. 13: 91-98.
- Papageorgiou EA
- Vellissariou V
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