Spinal Muscular Atrophy Screening
Currently, Spinal Muscular Atrophy is not a condition for which genetic screening is offered. In May 2013, the UK National Screening Committee (the UK agency that advises government ministers on the viability, effectiveness and appropriateness of screening programmes) announced a national consultation on genetic screening for Spinal Muscular Atrophy which runs until August 2013. See below for a link to the consultation and the expert review.
Other conditions for which genetic screening is currently offered in England and Wales include:
- Cystic Fibrosis
- Sickle Cell Anaemia (for certain 'high risk' groups only)
- Certain haemoglobin disorders
- Phenylketonuria (PKU)
Some of these conditions are genetically screened for antenatally (i.e. in pregnant women), these include Sickle Cell Anaemia, Thalassemia and certain haemoglobin disorders. Other conditions (e.g. Cystic Fibrosis, Phenylketonuria) are only screened for in newborn babies and form part of the newborn screening programme, administered through the 'heel prick' or 'blood spot' test.
Genetic screening for these conditions usually identifies not only babies who have the condition but also 'carriers' of the condition who do not have the genetic condition themselves but may pass the condition on to their offspring.
For more futher information on screening policies in the UK please see the UK National Screening Committee website.
Information about the conditions being studied
- About Cystic Fibrosis
- About Fragile X
- About Haemophilia
- About Spinal Muscular Atrophy
- About Thalassemia
- About Down's Syndrome
- Current UK screening policies
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