Monday, 16 May 2011

genetics - What are treatable foetal conditions during pregnancy?

Your question probably expresses a subtle confusion about the prenatal diagnostics and genetic testing.



So, genetic testing is one of the diagnostic methods in prenatal diagnostics (among with the other methods, see the list) which is used to diagnose genetic disorders of the foetus, whereas the disorders that are diagnosed on this stage are mostly genetic anomalies with dramatic impact on the feotus development, for example chromosome aberrations (like Down or Turner Syndromes). Should these conditions be diagnosed, the woman is given a choice to interrupt the pregnancy prematurely.



Less dramatic conditions (like sickle-cell disease) can be diagnosed at this time too, but are not treated before the birth.



The genetic disorders that are amenable to the dietary or medical treatment (like phenylketonuria or congenital hypothyroidism) are usually diagnosed in the newborn screening tests (newborn heel prickle test), because these screening is more precise and less dangerous compared to the pre-born diagnostics.

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