1.       Cystic Fibrosis.

 

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a.

is X-linked.

 

b.

about 1:25 of Caucasians is a carrier.

 

c.

the condition is less common in Asians and Afro-Caribbeans.

 

d.

meconium ileus occurs in 90% of affected neonates.

 

e.

most affected males are infertile.

 

f.

affected individuals are at increased risk of diabetes mellitus.

 

g.

affected individuals are at risk of fat malabsorption.

 

h.

carrier status can be detected in all individuals.

 

i.

the condition is due to a unique mutation.

 

j.

affected pregnancies can be detected by chorionic villus biopsy.

 

k.

affected pregnancies can be detected by amniocentesis.

 
l. women with cystic fibrosis should be discouraged from becoming pregnant.  
m. women with cystic fibrosis who inadvertently become pregnant should be encouraged to have termination of pregnancy.  
n. if a woman with cystic fibrosis becomes pregnant, at best the baby will be a carrier of cystic fibrosis.  
o. if a women with cystic fibrosis becomes pregnant and her partner screens negative for carrier status, there is no risk of the baby being affected.  
p. pulmonary hypertension is a bad prognostic feature for the woman with cystic fibrosis who becomes pregnant.  
q. neonatal screening became routine in the UK in 2007.  

 

 

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