About cystic fibrosis, how is it diagnosed before the baby is born?

After. Generlly, it is diagnosed afterwards brought standard genetic screening tests, or a sweat chloride kin test if it is an unusual type.
Genetic testing. A baby can only have cystic fibrosis (CF) if both parents are carriers of a CF mutation; even then the chances are 1 in 4 with each pregnancy. If both parents test positive for a CF mutation then the fetal status can be measured via amniocentesis with genetic testing of the baby's cells. This testing is readily available in the United States.

Related Questions

Were all babies from 1997-present screened for Cystic fibrosis in the state of Texas? Also, at what age do the symptoms for cystic fibrosis set in?

No. If memory serves me well. CF was not added to the newborn screening program until later.About 10 years back, the state expanded its screening program from 5 to more than 25 conditions, including CF. The symptoms might present with bowel blockage at birth, obnoxious smelly stools in infancy or may not have obvious symptoms for years. There is some individual variation from case to case. Read more...

What is cystic fibrosis and how is it diagnosed before the baby is born?

Cystic fibrosis. Cystic fibrosis (CF) is an inherited disease. There are some 1400 mutations of the CF gene that can cause cystic fibrosis. CF is passed down through families who inherit the mutated genes. If you have a family history of CF you should see your doctor about genetic counseling to see what your risk is. If you are pregnant then notify your obstetrician about this so that you can be informed. Read more...
Genetic illness. It is a genetic illness that affects the mucus in the lung and the pancreas, leading to progressive lung function decline and pancreatic insufficiency. It is usually diagnosed at birth with standard screening tests. Prior to birth, both parents can have genetic testing to assess their risk of having a child with cf. Read more...

My baby was born 4 weeks early and had a meconium plug that didn't pass till hour 57. Cystic fibrosis has been ruled out. What are the chances it's hirschsprungs? Or could it just be chance?

Likely it's chance. CF is one of the causes of meconium plug, but mostly it's a random happenstance. Ruling out CF is important. As long as your child is starting to have normal stools now, and they are fairly regular, it's very unlikely it's hirschsprungs. Generally anal stenosis, hirschsprungs, or other forms of obstruction would cause chronic constipation. If your child is stooling normally, i'd go with it. Read more...
Still small. Is the baby a boy? Chance is 1/5000 but about 1/1000 for boys. Having a late first bm is a sign but in a premature baby everything is off. If the baby's belly is soft and bowl movements are now regular then not to worry. Make sure you voice your concern to the pediatrician. Read more...
Hirschsprung Dis:(H) Due to absence of ganglion cells in lower bowel wall, extending from anus up. Seen in full term (less in preterm), m:f = 4:1, increase familial incidence, may be associated with other anomalies. 99% full term infant passes meconeum in 48 hrs of birth, h pts. Passes late, becomes chronically constipated. Check bowel movement. If chr. Constipation talk to pcp. Tests: rectal manometry/ suction biopsy. Read more...
Mecon. plug syndrome. Meconium plug syndrome has been described in infants born premature or of diabetic mothers. Essentially there is immaturity of ganglion cells in large bowel. This is a transient problem that does usually not cause difficulties later on in life. Initially child needs stimulation to bowel, enema etc, to move the plug out of bowel.Radiographic enema sometimes shows characteristic pattern. Read more...