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Cystic Fibrosis Prenatal Screening
Should I be tested for cystic fibrosis? If wife had negative prenatal screening & my son had negative IRT/DNA test (california screening). Curious after reading about CF in adults. Feel fine. anxiety
Cystic fibrosis is a genetic disorder involving lungs & digestive tract, causing recurrent lung infections due to thick inspissated mucus & poor growth in majority of patients due to malabsorption. Treatment involves inhaled respiratory therapies to prevent lung disease & pancreatic enzymes to enable absorption of nutrients. Average life expectancy is near 40 years, ...Read more
Yes. Talk to OB.: Cystic fibrosis is an inherited genetic disorder. Prospective parents can be tested to see they are carriers and discuss with genetic counselor the chance of having child with CF if one/both are carriers. Post-conception testing is also available. Talk to your ob. Here's link for additional info: http://www.Acog.Org/~/media/for%20patients/faq171.Pdf?Dmc=1&ts=20120518t1505423920. ...Read more
My wife & son passed california newborn screening for CF, does that mean odds are low for typical cystic fibrosis or mild form?
Newborn screening : for Cystic Fibrosis is done by Immunoreactive Trypsinogen, IRT. If othe IRT level is ^, DNA tests for CF gene mutations are done on blood on the Guthrie card. CF Foundation-accredited Care Centers in CA look for an "intermediate" sweat chloride result in young infants who do not gain wt. & have bad gas, abdominal pain & loose or hard stools &/or wheezing/coughing for > 2 wks. to diagnose CRMS. ...Read more
My son & wife tested neg for Cystic Fibrosis through screening test, not sweat test. However my son has hirschsprung disease. Should I test for CF - or it's high unlikely I have it? I'm 32. Feel fine
I wouldn't: There is no relationship between Hirschprung disease and CF. If you wand to know if you are an asymptomatic carrier of CF, the tests are available. However, you don't get to age 30 without symptoms when you have the disease and your fertility would also be diminished.If your wife is not a carrier, you can not produce babies with CF. ...Read moreSee 2 more doctor answers
When did testing/screening for cystic fibrosis start in california? I was born in 1982 at major hospital in LA. Not sure if they ever tested my mother, who I have no contact with.
During my preconception visit my dr. was really pushing genetic screening for before we start conceiving. We have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both Caucasian). ?
See below: In addition to screening for cystic fibrosis, Indications for screening include,AMONG OTHERS, any one of the following:**A known or suspected hereditary disease in the patient or a family member; **Presence of birth defects, chromosomal abnormality, intellectual disability, developmental delay in a parent, a child, or the child of a family member**Ashkenazi Jewish ethnicity ...Read moreSee 1 more doctor answer
My 17 month old keeps getting a cold, sinus congestion and ear-aches. He gets sick once every 1-2 months, Cystic fibrosis? Screening was clear. latino
Follow up/Cilia: Children of this age can have multiple common viral illnesses during the course of a year, especially if they attend daycare. If he is otherwise well, growing and developing normally there may be no abnormality. Other considerations include defects in the cilia. It is important to follow up with you physician. ...Read moreSee 1 more doctor answer
Not Typical: Certain rare conditions can also lead to high sweat chloride levels (the gold standard test for cystic fibrosis). However, these rare conditions (there's a list) will cause the patient to exhibit different symptoms than those consistent with cystic fibrosis, so the sweat chloride test is considered to be reliable in diagnosing CF in conjunction with the patient's history and physical exam. ...Read moreSee 1 more doctor answer
Examples are: colonoscopy for colon polyp or cancer; mammograms for breast lesions or cancer; psa a blood test that could indicate enlargement of cancerous prostate tissue; blood sugar or hemoglobin a!c for diabetes. Many think that scanning the whole body will pick up a cancer--in all likelihood, it will not. There also is no good blood test, yet, ...Read more
Prenatal screening is the group of procedures used in pregnancy to look for diseases and genetic mutations in the fetus (baby inside Mom). Screening is usually done as early as practical in the pregnancy. Methods include testing the pregnant woman's blood, scanning the fetus with ultrasound, sampling the amniotic fluid ...Read more
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