Where can you learn more about some of the conditions assessed in pregnancy?

There are a ton of tests performed in pregnancy and what seems like an endless checklist. Included in those tests may be genetic assessments such as carrier screening or general screening. Each genetic test is evaluating for different conditions in a different way. Check out the informational page on the testing available in pregnancy. In this blog post, I’ll reference organizations that can be used to better understand the more common conditions assessed, but this is not a comprehensive list of the conditions nor organizations.

Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is now identified at higher frequencies than in the past given it is recommended to be offered as a part of routine carrier screening to all patients. CureSMA.org goes into more detail of the features of SMA as well as the new drug therapies which have been shown to delay symptoms and increase lifespan when administered early in life.

Hemoglobinopathies

Hemoglobinopathies may be the most common genetic conditions. It is important to determine the exact hemoglobinopathy that has been diagnosed and discuss the features of that particular hemoglobinopathy. Sickle Cell Disease and a Sickle Cell Center of Excellence can be great resources to learn more. Sickle cell disease is typically referred to as one type of hemoglobinopathy, specifically hemoglobin SS disease.

Cystic Fibrosis (CF)

Cystic Fibrosis Foundation has a great introduction to the condition and links to research.

Down Syndrome/Trisomy 21

Most states, and sometimes cities, will have a Down Syndrome Network or Association for support. DownSyndromePregnancy.org is a great resource as well as the American Academy of Pediatrics. The American Academy of Pediatrics is a checklist of health implications that may arise at different stages of a person’s life and can be helpful to prepare for the future.

Sex Chromosomal Differences

Triple X syndrome, Klinefelter syndrome, XYY syndrome, and other variations of sex chromosome difference can now be screened for with cell-free DNA screening. The AXYS Association is a great network of support and resources. Living with XXY is another helpful organization for Klinefelter syndrome.

Turner Syndrome

Turner syndrome is typically when there is one X chromosome as opposed to two for a genetic female. It is considered a sex chromosomal difference. The Turner Syndrome Society provides excellent resources.

Trisomy 13 and Trisomy 18

Often Trisomy 13 and Trisomy 18 are discussed together; however, the conditions are substantially different in their features and life expectancy. Trisomy.org is an excellent resource and makes available factual pamphlets for individuals to learn more about each condition.

These are only some organizations working to ensure people receive factual information about the conditions as well as advocate for services and treatments. MedLine Plus is another trusted source for other genetic conditions that might be assessed via carrier screening or other screening methods.

* This blog constitutes general information about genetic testing and medical screening. This blog does not offer or provide medical advice or diagnosis, and nothing in this blog should be construed as medical advice or diagnosis. Do not rely on the information in this blog/article to make medical management decisions. Please consult with a medical professional before making those decisions. Do not delay in seeking professional medical advice if you think you have a medical concern. Do not disregard professional medical advice based on any information received in this blog.