Cystic Fibrosis: Prenatal Screening and Diagnosis
Cystic Fibrosis (CF) is a genetically inherited disorder affecting children and young adults. This disorder leads to problems with digestion and respiration, and can shorten the life-span of an individual. Symptoms of CF include build-up of thick mucus in the lungs causing congestion and associated respiratory problems. Mucus build up is also seen in the digestive tract leading to difficulty in the absorption of nutrients.
Prenatal Screening and Diagnosis
Prenatal screening tests are safe procedures used to determine if an expectant mother is likely to have a baby with a birth defect. Pre-natal tests to detect CF include chorionic villus sampling (CVS) and amniocentesis.
- Chorionic villus sampling (CVS): Prenatal test done in weeks 10 and 12 of pregnancy in which a sample of chorionic villus - wispy projections in the placenta (structure that develops in the uterus during pregnancy to provide oxygen and nutrients to the growing baby) is removed and tested to confirm or rule out CF in the baby.
- Amniocentesis: Prenatal procedure in which a sample of amniotic fluid (fluid that surrounds and protects a baby in the uterus) is removed and tested to check if the baby has CF.
Certain risks are common to both the prenatal tests. They include miscarriage, Rh sensitization (occurs in women with Rh negative blood), and uterine infection. Amniocentesis carries additional risks, although rare, such as needle injury, which may occur if the baby moves in the path of the needle used during the procedure. Also, the baby might develop orthopaedic problems if there is chronic leakage of the amniotic fluid after the procedure.