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What's on the Test

Prenatal Screening for Cystic Fibrosis

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WHAT IS IT? 

Genetic screening for cystic fibrosis (CF) has been recommended in the US for over a decade 

  • CF screening should be offered to all pregnant women or those considering pregnancy 
  • CF is caused by a change in the CFTR gene  
    • The CFTR gene instructs a cell to build a protein that helps control how salts move through cells 
  • Damage to the CFTR gene can lead to thick, sticky mucus  

Examples of Health Problems Caused by Thick Mucus 

  • Lungs 
    • Clogged and damaged airways resulting in breathing difficulties and multiple infections   
  • Bowel/Digestive Systems 
    • Meconium ileus: Some affected babies can have intestine blockage that can be detected on ultrasound or occur after birth 
    • Pancreas: An important organ that helps digest food and produces insulin  
      • Blockages can result in serious digestive problems such as malnutrition and a form of  diabetes  

Note: The above are the more common findings, however other organs may be affected

Underlying Genetics

  • All people carry a few variants (changes or mutations in their DNA) that may impair the function of an important enzyme or protein 
  • Thankfully, all genes come in pairs and as long as one copy of the CFTR gene is working, enough protein is available to maintain heath  
    • A ‘carrier’ describes someone who has a serious change in one CFTR gene copy of a gene pair 
    • Because the other CFTR gene copy is working well, there is enough CFTR protein so that ‘carriers’ are healthy  
    • If one parent (usually the mother is tested first) is found to be a carrier, then the other parent will be offered testing as well
  • A baby will be affected with cystic fibrosis if
    • Both parents are carriers and
    • Both of the baby’s gene copies are damaged (one non-working copy inherited from the mother and the other non-working copy from the father)
    • Because neither gene copy is making enough normal CFTR protein, the baby’s mucous is no longer helping to lubricate parts of the body, but becomes sticky    

KEY POINTS:

  • CF ‘screening’ tests will be offered by your obstetric provider during your office visit and applies to average risk women – those without any family or personal history  
  • Genetic counseling services are appropriate for  
    • Individuals with a personal or family history of CF  
    • A woman and her partner are both CF carriers  
  • If only one partner is a CF carrier, the baby is not at risk for CF 
  • If both partners are CF carriers, the risk to the baby of being affected with CF is ¼ or 25% 
  • States may test for CF at birth 
    • The newborn screening test will identify babies with CF but can’t tell whether or not either parent is a carrier
  • A prenatal CF screening test can identify if parents are carriers but, during pregnancy, only a diagnostic test such as amniocentesis or CVS can confirm if a baby is affected  

Learn More – Primary Sources: 

ACOG FAQs: Prenatal Carrier Screening

Cystic Fibrosis: Prenatal Screening and Diagnosis – ACOG  

Genetics Home Reference: Cystic Fibrosis 

March of Dimes: Cystic fibrosis and pregnancy 

MedlinePlus: Cystic Fibrosis

Locate a Genetic Counselor or Genetics Services: 

Genetic Services Locator-ACMG 

Genetic Services Locator-NSGC 

Genetic Services Locator-CAGC 

Locate a Maternal Fetal Medicine Specialist: 

Locate a Maternal Fetal Medicine Specialist: SMFM 

The DNA@ObG entries are meant for healthcare providers to share with patients as an educational tool. They are not intended as and do not constitute or substitute for medical or healthcare advice or diagnosis, and may not and should not be used for such purposes. Individuals should always consult with a qualified healthcare provider about their specific circumstances, including before starting or stopping any treatment, medical or otherwise. DNA@ObG content via this web site is provided with the understanding that The ObG Project is not engaged in rendering medical, counseling, legal, or other professional services or advice.

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Related ObG Topics:

Prenatal Diagnostic Testing: Amniocentesis and Chorionic Villus Sampling
Prenatal Carrier Screening Including Hemoglobinopathies

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