Doctor insights on:
Amniocentesis Cystic Fibrosis
Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US.A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications.Emotional & phys. development depend on severity, time in hospital, complications.Morb. & mort.factors afect emotional,cognitive behavior. ...Read more
Amniocentesis is a procedure used to draw a sample of the amniotic fluid that surrounds and cushions the baby in the womb. This fluid contains cells that have been sloughed off of the developing fetus. Amniocentesis is most often used to detect genetic abnormalities, though the results can also reveal the baby's sex, gauge lung maturity (if done close to term), detect amniotic fluid infections, or ...Read more
As a carrier: Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more
Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read moreSee 1 more doctor answer
What are the chances of a child getting cystic fibrosis among the different racial groups in the u.S.?
Overall 1/3700: Acording to the CF foundation: the overall birth prevalence is 1/3700 . It can occur in any race, however the greatest incidence is in caucasians of northern european descent, being 1/2500. The other major groups affected are hispanics 1/13500, african americans 1/15000. More than 10 million of us carry one part of the defective gene, but to have the disease you must have a copy from both parents. ...Read moreSee 1 more doctor answer
Depends on genes: The risk of acquiring cystic fibrosis (CF) depends on whether the parents of a child are carriers for the gene. It is estimated that about 1 in 20 americans are carriers of the CF gene. In order for a child to acquire the disease, both parents must be carriers. If both parents are carriers, there is then a 25% chance that the child will acquire the disease. ...Read moreSee 1 more doctor answer
Cough, poor growth: Common symptoms of cystic fibrosis include cough, wheeze, recurrent lung infections, poor growth, foul smelling stools, salty sweat, clubbing, and rectal prolapse. The more symptoms the greater the chance of having cystic fibrosis. Most infants today are diagnosed by newborn screening for CF before they develop any symptoms and early therapy can minimize disease symptoms. ...Read more
Recessive gene: A mutation is carried in the dna of both unaffected parents & that matching or similar mutation is paired up at conception when the sperm & egg form completed chromasomes with the defective info. Late in pregnancy and after delivery, the effect of the CF gene abnormality begins to reveal itself. In carriers, the good gene compensates for the bad & no problems occur. ...Read more
Recessive genes: A mutation is carried in the dna of both unaffected parents ; that matching or similar mutation is paired up at conception when the sperm ; egg form completed chromasomes with the defective info. Late in pregnancy and after delivery, the effect of the CF gene abnormality begins to reveal itself. In carriers, the good gene compensates for the bad ; no problems occur. ...Read more
Progressive disease: Cystic fibrosis (CF) is a progressive, lifelong condition in which the glands that produce mucus, sweat, and intestinal secretions do not function properly. Thick mucus accumulates in the lungs, leading to breathing difficulty and infection. CF also impairs digestion, and affected males are usually infertile. ...Read moreSee 1 more doctor answer
Cystic fibrosis (CF): An inherited condition that affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin & slippery. But in cf, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, especially in the lungs and pancreas. Treatments are aimed at preventing lung infections & improving nutrition. ...Read more
Organ Donation: Organ donation is possible and should be discussed with Lifelink. Many people do not realize that other useful tissues like heart valves, tendons, corneas are part of the donation process as well and can help recipients. In CF lungs heart, pancreas and liver are likely not able to be shared. See Lifelink http://www.lifelinkfound.org/index.cfm ...Read more
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