Cystic Fibrosis is Only the Tip of the Genetic Screening Iceberg

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Cystic fibrosis (CF) is probably the condition most readily associated with genetic carrier screening, a blood test done to check whether someone is a carrier for a specific genetic condition. When someone is a carrier means that they have a gene for a condition but haven’t developed the disease. This is possible for recessive genetic conditions like cystic fibrosis, which only develops when an individual inherits two cystic fibrosis genes, one from each parent.

Cystic Fibrosis - When someone is a carrier means that they have a gene for a condition but haven’t developed the disease. This is possible for recessive genetic conditions like cystic fibrosis, which only develops when an individual inherits two cystic fibrosis genes, one from each parent.

What some people don’t realize is that in addition to cystic fibrosis, there are a host of other conditions that can be screened for simultaneously. The American College of Obstetricians and Gynecologists (ACOG) emphasizes screening for the following conditions in certain individuals.  Furthermore, tests for over one hundred more conditions are available, with the aim of giving couples more information for important reproductive decisions.

Cystic Fibrosis

Cystic fibrosis (CF) is a condition that causes mucus to build up in the lungs and other organs, making it difficult to breathe. The mucus also puts an individual at risk for lung infections, in addition to other associated complications. All women who are expecting or planning a family should consider screening for CF. Like with other recessive genetic conditions, if a woman is found to potentially have a gene for the disease, the partner is also offered screening.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a disease in which the muscles progressively reduce their response to nerve signals. This leads to muscle weakness and disability that sometimes extends to problems with breathing or swallowing. This is another condition in which the American College of Obstetricians and Gynecologists recommends that screening be offered to all people who are planning families, regardless of their background.

Fragile X Syndrome

Fragile X syndrome, also known as Martin-Bell syndrome, is a condition caused by a mutation on the X chromosome (one of the sex chromosomes) that causes intellectual disability and sometimes behaviors associated with autism. It has much more impact on males because they only have one X chromosome. If a female inherits an X chromosome with a fragile X mutation, it can still affect her but usually only mildly, because she has another X chromosome to compensate. A father with fragile X would have the disease, while a mother could be a carrier with very few symptoms. Screening is recommended for women with a family history of fragile X or intellectual symptoms that might suggest fragile X.

Fragile X Syndrome

Tay-Sachs Disease

Tay-Sachs disease, which is caused by a large set of mutations, results in cells’ inability to break down certain waste products because they lack an essential enzyme. The disease, which currently has no cure or treatment, usually begins in infancy or childhood and leads to childhood death. There are higher rates of Tay-Sachs disease in Ashkenazi Jewish, French Canadian, and Cajun populations, so individuals with these backgrounds are recommended genetic carrier screening if they’re planning to start families. The partner with the family background should be tested first, and if they are found to be a carrier, the other partner should be tested as well.

Hemoglobinopathies

Hemoglobinopathies are problems with the red blood cells, including sickle cell disease (or sickle cell anaemia) and others. The range of conditions in this group can all lead to very serious anaemia. Hemoglobinopathies used to be more common among people with Mediterranean and Middle Eastern, African, West Indian, and Southeast Asian backgrounds, so carrier screening is recommended for people from these populations. However, hemoglobinopathies have become more common in Europeans in recent years.

 

While American College of Obstetricians and Gynecologists focuses on the above conditions because of their prevalence and impact on the health of affected individuals, couples have the option to get carrier screening for over one hundred genetic disorders. Speak with a genetic counsellor to determine what screening tests you may want to pursue based on your family history and any concerns you may have about specific genetic conditions.

 

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*This is a collaborative post

 

SOURCES:

  1. https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opinions/Committee-on-Genetics/Carrier-Screening-for-Genetic-Conditions?IsMobileSet=false
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449659/
  3. https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
  4. https://www.mda.org/disease/spinal-muscular-atrophy/medical-management
  5. https://rarediseases.org/rare-diseases/fragile-x-syndrome/
  6. https://www.autism.com/pro_research_fragilex
  7. https://fragilex.org/understanding-fragile-x/fragile-x-101/
  8. http://www.curetay-sachs.org/taysachsdisease.jsp
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163784/
  10. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163784/

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