Preventing Hereditary Ankylosing Spondylitis: Genetic Testing Options

Q: Preventing Hereditary Ankylosing Spondylitis: Genetic Testing Options

Hello, thank you for your questions. <br>Here are my responses： <br>1. <br>Can chorionic villus sampling or amniocentesis performed after pregnancy determine with nearly 100% accuracy whether the fetus is a carrier of ankylosing spondylitis? --> I am not sure about this.<br>2. <b

Preventing the transmission of ankylosing spondylitis to the next generation?

Hello Doctor, I am a 25-year-old male.
I have been diagnosed with ankylosing spondylitis since I was 17, and I am concerned about passing on this genetic condition to my future children.
I have heard about two options: 1.
Chorionic villus sampling (CVS) or amniocentesis after pregnancy to determine if the fetus is a carrier of ankylosing spondylitis, or 2.
Undergoing in vitro fertilization (IVF) combined with preimplantation genetic screening (PGS) and ultra-rapid preimplantation genetic diagnosis (Ultra PGD) to select embryos that do not carry the disease.

I would like to ask:
1.
Is it true that CVS or amniocentesis can provide nearly 100% accuracy in determining if the fetus is a carrier of ankylosing spondylitis?
2.
Is it feasible to avoid having a carrier child through PGS and Ultra PGD?
3.
Are there any other methods available?
Thank you for your assistance!

Xiao Tian, 20~29 year old female. Ask Date: 2023/11/28

Dr. Gao Jiankai reply Internal Medicine

Hello, thank you for your questions.
Here are my responses:
1.
Can chorionic villus sampling or amniocentesis performed after pregnancy determine with nearly 100% accuracy whether the fetus is a carrier of ankylosing spondylitis? --> I am not sure about this.
2.
Is it truly feasible to avoid having a "carrier baby" through PGS + Ultra PGD? --> This information was not mentioned in our routine medical knowledge discussions.
3.
Are there other methods? --> I apologize, but I am also unclear on this matter.

The difficulty in answering your questions stems from the fact that the gene associated with ankylosing spondylitis, HLA-B27, is not a pathogenic gene.
At most, a child with this gene may have a higher risk of developing ankylosing spondylitis if the parents are affected by it, but this is not absolute.
Furthermore, treatment for this condition has advanced rapidly, and many individuals with the disease may not exhibit visible symptoms.
I believe the genetic testing you are concerned about should focus on more severe pathogenic genes that could lead to significant health issues for the child, whereas HLA-B27 is not classified as such.

Best regards from the Allergy, Immunology, and Rheumatology Department of Changhua Hospital, Ministry of Health and Welfare.

Reply Date: 2023/11/28

More Info

Ankylosing spondylitis (AS) is a type of inflammatory arthritis that primarily affects the spine and can lead to severe, chronic pain and discomfort. It is known to have a genetic component, particularly associated with the HLA-B27 gene. As a 25-year-old male diagnosed with AS at 17, your concerns about passing this condition to your future children are valid and shared by many individuals with hereditary conditions.
1. Chorionic Villus Sampling (CVS) and Amniocentesis: Both CVS and amniocentesis are invasive prenatal testing methods that can provide information about genetic conditions in the fetus. CVS is typically performed between 10-13 weeks of pregnancy, while amniocentesis is usually done between 15-20 weeks. While these tests can identify certain genetic markers, including the presence of the HLA-B27 gene, it is important to note that not all cases of AS are directly linked to this gene. Therefore, while these tests can provide a high degree of certainty regarding the genetic status of the fetus, they may not guarantee a complete understanding of the risk of developing AS later in life.
2. Preimplantation Genetic Testing (PGT): The combination of Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) is a viable option for couples undergoing in vitro fertilization (IVF). PGS is used to screen embryos for chromosomal abnormalities, while PGD can be used to test for specific genetic conditions. By selecting embryos that do not carry the genetic markers associated with AS, it is possible to reduce the risk of having a child with the condition. However, it is essential to consult with a genetic counselor or specialist to understand the limitations and implications of these tests, as not all genetic predispositions can be screened out.

3. Other Options: In addition to the methods mentioned, there are other considerations for prospective parents concerned about hereditary conditions. Genetic counseling is highly recommended to discuss family history, the implications of genetic testing, and the potential outcomes. This can help you make informed decisions about family planning. Additionally, lifestyle factors, such as maintaining a healthy weight, engaging in regular physical activity, and avoiding smoking, can help manage symptoms of AS and improve overall health, which may also influence the health of future generations.

In summary, while CVS and amniocentesis can provide valuable information about the genetic status of a fetus, they may not fully predict the development of AS. PGS and PGD offer a promising avenue for reducing the risk of passing on genetic conditions, including AS. Consulting with a genetic counselor can provide personalized guidance tailored to your family's needs and help you navigate the complexities of genetic testing and family planning.

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