Cystic fibrosis is the most common lethal inherited disease in white persons. It is caused by defects in the gene cystic fibrosis transmembrane conductance regulator (CFTR) that create abnormalities in the regulation of chloride transport across epithelial cells and mucosal surfaces. It affects the mucus glands in multiple organ systems, in particular the respiratory system. In patients with cystic fibrosis, the body produces mucus that is abnormally thick and sticky in the respiratory tract, gastrointestinal tract, pancreas and sweat glands that makes these secretions difficult to be cleared. The mucus obstructs the glands and airways resulting in chronic respiratory infections. End stage lung disease is the principal cause of death.
Cystic fibrosis is caused by a mutation on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The CFTR contains a highly charged central regulatory domain that allows it to regulate the activity of chloride and sodium channels. Cystic fibrosis transmembrane conductance regulator (CFTR) mutations have been classified into five categories of abnormalities. The presentation of the disease is probably related to the underlying genetic abnormality.
In the United States, cystic fibrosis occurs approximately 1 case per 3300 in whites compared with 1 in 15,000 in African Americans and 1 in 32,000 in individuals of Asian origin.. The carrier rate in whites is 1 in 30 compared with 1 in 60 in African Americans and 1 in 90 in Asian Americans.. Pulmonary complications account for most of the morbidity and mortality associated with cystic fibrosis. Advances in the treatment of cystic fibrosis with mucus thinners, bronchodilators, antibiotics and anti-inflamatories have transformed what was only a childhood disease into an adult pulmonary condition.
Testing for cystic fibrosis carrier status can be performed in a blood sample or saliva. While some medical providers only consider testing couples considered to be at high risk of developing cystic fibrosis, current recommendations include the carrier screening test be made available to all couples planning pregnancy. A baby is not at risk for cystic fibrosis unless both parents are carriers of the mutated gene. A couple in which both parents are carriers should consider genetic counseling prior to conceiving.
The ideal time for genetic counseling is before a woman gets pregnant. Ethnic origin and family history are indicators for the need for genetic counseling to avoid passing the disorder to their children. In a pregnant woman, screening may start by evaluating the child's father. If the father is negative, the child could become a carrier but will not suffer from cystic fibrosis disease. If the father is a cystic fibrosis carrier, the unborn child can be tested by means of chorionic villi sampling or by amniocentesis. When both parents are carriers of cystic fibrosis, assisted reproductive technologies that combine pre-implantation genetic diagnosis with in-vitro fertilization is now available to help parents prevent the transmission of this genetic disorder. Pre-implantation genetic testing is also available for couples using in-vitro fertilization as an alternative form of reproduction.
Cystic fibrosis is an autosomal recessive disease which means that to inherit cystic fibrosis the child must receive a defective gene from each parent. Carrier testing is used to identify individuals (not affected) who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. If both parents are carriers, genetic counseling is required. A detailed discussion must include the 1 in 4 chances (25%) of having a severely affected child and 1 in 2 chances (50%) of having a child who becomes a carrier of the disease like his/her parents. There is also a 1 in 4 chances (25%) that the child will be free of the abnormal gene and neither be a carrier nor have the disease.
If your child suffers from cystic fibrosis and you were not given the option to undergo genetic counseling and/or genetic testing, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
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