Chromosomal abnormalities
Hello Dr.
Chen: I am pregnant with a pair of twins who have chromosomal abnormalities, specifically a microdeletion at the 22q11.21 region detected through amniocentesis with chromosomal microarray analysis.
We ultimately decided to terminate the pregnancy.
My husband and I underwent parental blood chromosomal microarray testing, which revealed that I have a chromosomal abnormality in the same 22q11.21 region, specifically a 3.364 Mb microdeletion.
However, I am otherwise healthy.
I would like to ask Dr.
Chen if mothers with such issues can undergo PGS (Preimplantation Genetic Screening) or PGD (Preimplantation Genetic Diagnosis) for embryo selection? What is the success rate?
Shangxin de mama, 30~39 year old female. Ask Date: 2017/08/20
Dr. Chen Ming reply Rare Disease
This issue is very complex.
Please come to the Department of Genetic Medicine at National Taiwan University or the Changhua Christian Hospital outpatient clinic for a face-to-face discussion.
God bless.
Reply Date: 2017/08/20
More Info
When considering chromosomal abnormalities and the options available for parents, particularly in the context of Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD), it is essential to understand the implications of the specific chromosomal abnormalities identified and the potential for successful outcomes with these technologies.
In your case, the identification of a chromosomal abnormality in the 22q11.21 region, particularly a microdeletion or microduplication, raises important questions about the genetic health of future pregnancies. PGS and PGD are both advanced reproductive technologies that can help in identifying embryos with chromosomal abnormalities before implantation during in vitro fertilization (IVF).
PGS vs. PGD:
- PGS is used to screen embryos for aneuploidy (abnormal number of chromosomes) and can identify embryos that are chromosomally normal before they are implanted into the uterus. This is particularly useful for couples who have experienced recurrent pregnancy loss or have a history of chromosomal abnormalities.
- PGD, on the other hand, is specifically designed to test for known genetic disorders that may be passed from parents to their children. In your case, if the mother has a known chromosomal abnormality, PGD could be utilized to select embryos that do not carry this specific abnormality.
Success Rates:
The success rates for PGS and PGD can vary widely based on several factors, including the age of the mother, the specific chromosomal abnormality, and the overall health of the embryos. Generally, the success rates for PGS can range from 50% to 70% for achieving a live birth, depending on the age of the woman and the quality of the embryos. PGD success rates can be similar, but they are highly dependent on the specific genetic condition being tested for and the number of embryos available for testing.
Considerations for Your Situation:
Given that you have a chromosomal abnormality identified in the 22q11.21 region, it is advisable to consult with a genetic counselor or a reproductive endocrinologist who specializes in genetic testing. They can provide personalized advice based on your specific genetic background and the implications for your future pregnancies.
1. Genetic Counseling: It is crucial to have a thorough genetic counseling session to understand the risks associated with the identified chromosomal abnormalities and the implications for your offspring. A genetic counselor can help interpret the results of your chromosomal analysis and discuss the options available to you.
2. PGS/PGD Feasibility: You should discuss with your healthcare provider whether PGS or PGD is appropriate for your situation. If PGD is an option, it may allow you to select embryos that do not carry the specific chromosomal abnormality, potentially reducing the risk of passing on the condition.
3. Emotional and Psychological Support: Dealing with the implications of chromosomal abnormalities can be emotionally taxing. Seeking support from mental health professionals or support groups can be beneficial as you navigate these decisions.
4. Future Pregnancies: If you choose to pursue IVF with PGS or PGD, it is essential to have realistic expectations regarding the number of embryos that may be viable for implantation after testing. Not all embryos will be chromosomally normal, and this can impact the number of attempts needed to achieve a successful pregnancy.
In conclusion, while PGS and PGD offer promising options for parents with known chromosomal abnormalities, the decision to pursue these technologies should be made with careful consideration and professional guidance. The success rates can be encouraging, but they are influenced by various factors, and a personalized approach is essential for the best outcomes.
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