Doctor insights on:
Prenatal Test For Cystic Fibrosis
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
Yes, Gold Standard: The gold standard for a diagnosis of CF is 2 back-to-back sweat chloride tests. However, the ability to run genetic tests and detect the disease in this fashion is becoming more common. In fact, it is now standard procedure in all 50 states for newborn babies to be screened, via blood from a heel prick, for cystic fibrosis. ...Read moreSee 2 more doctor answers
Depends on where: Newborn blood screening programs vary from state to state. In California, screening all newborns began around 2007. However, there probably were earlier pilot programs to test different screening methods to see which method would work the best. That means some babies were probably getting screened before 2007. Of course, babies born at home without medical care might miss getting screened. ...Read more
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
No: There are now hundreds of recessive diseases for which prenatal testing is available, and more are being added all the time, but there are thousands of recessive diseases, most of them quite rare. ...Read more
As high as 15%: The sweat chloride test is still the gold standard diagnostic test for cystic fibrosis. The accuracy of this test is highly dependent on the method used and the lab it is performed in. I only trust a result that is performed in a center that is certified by the cystic fibrosis foundation. Some reasons for false positives include: lab error, malnutrition, & eczema. ...Read more
Old Days: Back in the "old days, " patients with CF would frequently die, and the autopsy findings of the lungs showed scarring ("fibrosis") and bubbles ("cysts, " "cystic"). Thus, it was called cystic fibrosis. We know much more now about this disease, but the old name stuck. ...Read moreSee 1 more doctor answer
Prenatal Dx of PKU: Phenylketonuria, pku is the result of the deficiency of the enzyme phenylalanine hydoxylase which converts phenylalanine to tyrosine. There is a prenatal test available to detect this enzyme deficiency. However there are rare forms of pku that result from cofactor deficiency or other enzymes that are involved in the conversion of phenylalanie to tyrosine. Pku is not a fatal genetic defect. ...Read more
When babies are born, are they screened for cystic fibrosis? Also, can a chest xray indicate cystic fibrosis in the lungs?
Depends: The specifics of newborn screening are defined on a state to state basis. Many states screen for CF, but this was not added to the screening in my state until about 10 years ago. The x-ray changes that may be seen in some older CF patients are not present in early childhood and not specific to the disease when they are seen. ...Read moreSee 1 more doctor answer
CF home treatments: Long term care of CF at home requires regular use of airway clearance therapies to keep lungs clear. Several methods to remove secretions with help of inhaled medications & devices (chest vest, manual percussion) are utilized. Chronic lung infections may also require use of inhaled antibiotics. Please consult a pediatric pulmonologist at a CF center to help guide therapy based on individual needs. ...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
Pregnancy 15 week, ultrasound report.,.. Turner syndrome with cystic hygroma and hydrops fetalis....., your advise required?
Your decision: in the end. These findings in the first trimester usually carry a poor outlook for survival of the baby but there have been many reports of resolution of both cystic hygroma and hydrops as pregnancy progresses. Turner syndrome will always be there. I cannot decide for you but suggest you consider re-evaluating by ultrasound in 3-4 weeks should you decide to continue the pregnancy, you will then know more about the prognosis for the baby and any associated problems such as congenital heart defect etc. see:http://www.turnersyndrome.org/#!child/c4ff ...Read more
Does noninvasive prenatal testing(cfDNA )capture baby's genetic defects?Is amniocentesis better for more accurate results? Im 31&12 weeks pregnant.
Some and yes: The cf-DNA can detect many genetic anomalies but it is not 100% and when positive is usually confirmed by an amniocentesis for a full karyotype. The amniocentesis is the gold standard for detecting genetic anomalies . Sampling of the placental tissue _ ie: chorionic villus sampling would be comparable to an amniocentesis and can be performed earlier in the pregnancy. ...Read more
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
Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.
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