Prenatal Screening for Cystic Fibrosis

In this article:

‍

New and planning parents alike are eager to learn how their baby's biological parents' genetics will affect their baby's health. Will the baby inherit a genetic disorder? Is there a way to know? Thankfully, prenatal screening makes early detection, diagnosis, and treatment of genetic disorders possible.

One helpful prenatal genetic screening is for Cystic Fibrosis (CF). Approximately 1 in 35 Americans are carriers of a gene mutation that causes CF and risk passing the condition to their biological children. Therefore, knowing the ins and outs of CF prenatal screening is crucial. For detailed information, continue reading about CF and prenatal screening below.

‍

‍

CF is a genetically inherited disorder that can severely damage important organ systems such as the lungs and digestive system. Usually, the cells responsible for producing mucus, sweat, and digestive juices produce thin, slippery fluids. CF involves a defective gene that causes these cells to produce thick, sticky secretions. These thicker secretions drastically effect the functioning of the lungs and pancreas.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). This mutation changes a protein that regulates salt movement between cells. This causes an onset of varied health issues related to thick, sticky secretions. Different types of gene mutations affect the severity of CF.

Signs and symptoms of CF include:

• Wheezing and shortness of breath
• Exercise intolerance
• Repeated lung infections
• Persistent cough with mucus
• Inflamed nasal passages
• Recurrent sinusitis
• Infertility
• Pancreatitis
• Recurring pneumonia
• Foul-smelling, greasy stools
• Difficulty gaining weight
• Intestinal blockage
• Rectal prolapse from constipation
• Excess salt in sweat
• Lack of energy
• Hemoptysis
• Respiratory failure
• Pneumothorax
• Acute exacerbations
• Nutritional deficiencies
• Diabetes
• Liver disease
• Osteoporosis
• Dehydration

CF mutates a gene called cystic fibrosis transmembrane conductance regulator (CFTR) and changes a protein that regulates salt movement within cells. This causes an onset of respiratory issues related to thick, sticky mucus. Different types of gene mutations affect the severity and condition of CF.

‍

‍

CF carrier screening is a way for couples to find out if they are carriers of CF. CF carrier screening is offered to all couples actively planning pregnancy and all pregnant people regardless of personal or family history or ethnicity. During your CF carrier screening your medical provider takes blood or cell samples from the tester's cheek. Afterward, the sample is tested in a lab for disease-causing mutations. Although anyone can have CF, CF is most commonly found in people of white, Northern European backgrounds.

If both biological parents are carriers, there is a:

- 25% chance the baby will have CF

- 25% chance the baby won't have CF or be a carrier

- 50% chance the baby will be a carrier and not have CF

Additionally, if a person with CF has a child with a CF carrier, the baby has a:

50% chance of being a CF carrier

50% chance of having CF

If a couple forgoes CF carrier screening prior to becoming pregnant, your medical provider may recommend prenatal genetic testing to detect CF in your baby. Early diagnosis provides numerous benefits over receiving a diagnosis after the onset of symptoms.

Prenatal diagnosis involves chronic villus sampling (CVS) or amniocentesis, which are two methods used to collect your baby's cells and perform genetic testing. Genetic CF tests are accurate 100% of the time. CVS and amniocentesis are invasive procedures, but non-invasive genetic testing for CF is also available. The most common non-invasive test uses cell-free DNA from maternal plasma to detect CF in the growing baby.

‍

‍

‍

Non-invasive prenatal screening for CF has no risks. However, there are slight risk factors for amniocentesis and CVS. Amniocentesis extracts amniotic fluid by a needle incision through the pregnant person's abdomen. The procedure is usually performed at 15 to 18 weeks of pregnancy because sooner timing increases the risk of miscarriage.

A person undergoing amniocentesis can experience cramping, amnionitis, and more. CVS retrieves samples from the placenta by either a needle insertion into the abdomen or a tube into the cervix. There is a 1% chance of miscarriage and similar symptoms associated with amniocentesis.

‍

‍

Unfortunately, CF is not curable. However, there are treatment options to help reduce the symptoms and complications of CF. Most treatment involves medication.

Medication for CF helps to:

• Target gene mutations
• Treat and prevent lung infections
• Reduce lung and airway inflammation
• Thin mucus
• Keep airways and bronchial tubes open
• Help the digestive tract absorb nutrients
• Treat constipation or bowel obstruction
• Assist pancreatic enzymes
• Address diabetes or liver disease 

Pulmonary rehabilitation can consist of nutritional counseling, breathing techniques, and exercise therapy. In some cases of CF more aggressive treatment may be necessary, such as nasal and sinus surgery, oxygentherapy, lung or liver transplant, bowel surgery, and/or feeding tubes.

‍

Stem cell therapy and research are showing exciting results for treating cystic fibrosis. 

There are different kinds of cells in the lungs. One type, airway stem cells, can produce other types of cells in the lungs to replace or regenerate cells that die or are damaged.

Researchers think there may be potential to treat CF in the future using gene editing tools in stem cells. If a stem cell is edited, every cell produced by the stem cell would also have the correct gene. So, if an airway stem cell had a correct copy of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the new lung cells produced by that stem cell would also have a correct copy of this gene. 

This same theory of gene editing in adult stem cells is currently being studied to treat diseases like sickle cell anemia. However, before gene editing is possible for airway stem cells to treat CF, researchers must learn how to identify airway stem cells and where to find them in the lungs. Once that is possible, these stem cells could be targeted to treat CF.

‍

Bank your stem cells with Anja Health

‍

Determining your baby's risk of inheriting CF or other genetic disorders can feel overwhelming. Dealing with health-related concerns is easier when feeling confident enough treatment options are available. Don't miss the opportunity to save your baby's umbilical cord and placenta stem cells for future cell-based treatments.