Prenatal Testing for Cystic Fibrosis

Prenatal testing can indicate, before the baby is born, if the baby has cystic fibrosis. Testing is performed through either amniocentesis or chorionic villus biopsy. As part of your prenatal testing for cystic fibrosis, you may also want to check to see if you are a cystic fibrosis carrier.

An Overview of Prenatal Testing for Cystic Fibrosis

If you are pregnant, prenatal genetic testing for cystic fibrosis can be used to find out if your baby has cystic fibrosis. Two tests that can be performed include amniocentesis and chorionic villus biopsy. In addition, some states are now testing the blood of all newborns for cystic fibrosis (CF).
 

Prenatal Testing for Cystic Fibrosis: Amniocentesis

In amniocentesis, your doctor will insert a hollow needle through your abdominal wall into your uterus to obtain cells from the fluid (amniotic fluid) around the baby. The fluid is then tested to see if both of the baby's cystic fibrosis transmembrane conductance regulator (CFTR) genes are normal.
 

Prenatal Testing for Cystic Fibrosis: Chorionic Villus Biopsy

In a chorionic villus biopsy, your doctor will use an ultrasound to guide a thin tube through your vagina and cervix into your uterus and remove a tiny piece of the placenta to biopsy. The cells of the placenta are then tested to see if the baby has CF.
 

Cystic Fibrosis Diagnosis: CF Carrier Testing

As part of prenatal testing for cystic fibrosis, you may also want to check to see if you are a cystic fibrosis carrier, especially if:
 
  • You have a family history of cystic fibrosis
  • You are a partner of someone with cystic fibrosis
  • You are planning a pregnancy.
     
A genetics counselor at your local hospital can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes cystic fibrosis. The blood or saliva sample will detect 9 out of 10 cases of cystic fibrosis. Some insurance plans cover genetic testing.
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