The prenatal diagnosis of fetal genetic testing for Cystic Fibrosis during pregnancy is performed by an invasive procedure. This involves either taking a chorionic villus sample (13 weeks gestation) or by taking amniotic fluid (18 to 20 weeks gestation).
Prenatal testing for Cystic Fibrosis is recommended for couples at high risk of having a child with the disease, such as when,
a) the parents are known to be mutation carriers of Cystic Fibrosis,
b) a family history of a member of the family with Cystic Fibrosis, and
c) in cases where ultrasound findings identify (echogenic bowel) related to cystic fibrosis.
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