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Fertility Screening Prevents Births With Gene Disorders

by Rathi Manohar on January 17, 2011 at 10:43 PM
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 Fertility Screening Prevents Births With Gene Disorders

A couple in East Lothian have become the first in Scotland to go through fertility screening to prevent their second child from being born with cystic fibrosis.

 Lee and Stephen Smith had to go through the painful experience of seeing their first child, Eden suffer with the illness, a result of a 'faulty gene' that the parents carried.

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One in 25 people carry the 'faulty gene', but only when two carriers bear a child together does the illness get passed on.

The IVF-style tests which the Smiths underwent screened single-gene disorders. Pre-implantation genetic diagnosis(PGD)  involves the testing of embryos, created through IVF treatment, to ensure they are free of genetic conditions such as cystic fibrosis, before they are implanted.
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Cystic Fibrosis is one of the most common life-threatening inherited diseases in the UK.  The condition produces thick sticky mucus that affects the internal organs, particularly the lungs and digestive system, by clogging them.   This makes very difficult to breathe and digest food.

The Western General Hospital in Edinburgh was the only hospital in Scotland to offer the pre-implantation testing to couples who have already gone through the trauma of having a child suffer. Dr Mary Porteous, a consultant in clinical genetics for NHS Lothian, carried out the genetic testing for the Smiths.

And on November 14th last year, the Smiths had their little baby boy, Thomas, whom the doctors confirmed, did not have the illness.

Lee and Stephen Smith say, "We knew we wanted another child, and were really pleased when we got the opportunity to undergo this treatment."



Source: Medindia
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