- Passing of motosed CFTR gere (ajstic fibrosis traramembrane conductance regulator)
- If single mutated copy passed
- PT both passed mutated
- Carrier
- CYSTIC FIBROSIS
- Bowel obstruction in children.
- Sinusitis presents as facial pain, fever, headache, nasal diagnose
- Nose polyps
- Frequent lung injections
- Trouble breathing
- Cystic fibrosis related diabetes due to damage to panoeas pancreatitis)
- Osteoporosis mal absorption of calcium & vitamin D
- Digestive problems mal absorption of Vitamin A,D,E,k
- Steatorrhoea
- Infertility
- Coogulations disorders
- Couple can get tested for CFTR gene.
- During pregnancy testing can be performed (choriortic villus sauepling) amniocantentehsis can bed on.
- In fetuses having Anemia with hydrops fetals due to Thalesemia or (alphathal major) or ATMin utero compatible hemahchoitic call trumsplantation (I LIHCT IUT) at 18-22 week has saved such bodies, which was unimaginable till now through the technique is new but certain has got potential to save such fetuses in future.
- Successful in utro stemcell transplantations with stem cells is a major step in fetal medicine which opens possibilities of management of congenital, hemopoictic, metabolic and immunological disorders without chemotherapy.
- In another recessive genetic disorder cystic fibrosis has shown some promising results in experimental animals cystic filosis is a life threatening multi-organ disease.
- If diagnosed by ch villi sampling/Amniocentesis the couple may be given a choice of termination of the pregnancy.
- Duchene 4 Bechers muscular dys therapy are other musculasislefal disorders where the children do not survive longer can be diagnosed pre-natal & if couple desires the pregnancy may be continued or terminated accordingly.
- G.H. deficiency is another disorder which can be diagnosed prenatally & managed accordingly by giving regular G.H. patiently to the baby in post-natal life during the years of growth.
