Genetic Concerns for Pregnancy: Should You Get Tested?

Q: Genetic Concerns for Pregnancy: Should You Get Tested?

Hello： Every major hospital's obstetrics and gynecology department offers prenatal genetic counseling, and couples can register together. <br>However, not all genetic disorders can be detected in advance. <br>Thank you for your letter, and I wish you peace and happiness.

Pregnancy planning consultation

Hello Dr.
Jan: My husband and I have been married for nearly a year, and we are considering having a baby.
However, since my in-laws are cousins (my father-in-law's mother is my mother-in-law's aunt), I would like to ask if my husband should undergo genetic testing to check for any hereditary issues.
If so, which department should he visit? Additionally, my husband's older brother already has a seven-year-old daughter who is perfectly healthy with no abnormalities.
I would like to know if this type of inheritance can skip generations or if it is related to the sex of the child (boy or girl).
Both sides of the family have no history of hereditary diseases, but I am concerned about the potential risks of genetic disorders in our future child due to my in-laws being close relatives.
Thank you.

ava, 20~29 year old female. Ask Date: 2012/08/29

Dr. Zhan Deqin reply Family Medicine

Hello: Every major hospital's obstetrics and gynecology department offers prenatal genetic counseling, and couples can register together.
However, not all genetic disorders can be detected in advance.
Thank you for your letter, and I wish you peace and happiness.

Reply Date: 2012/08/29

More Info

When considering pregnancy, especially in the context of potential genetic concerns due to consanguinity (in this case, your husband's parents being cousins), it is prudent to explore genetic testing options. Consanguinity can increase the risk of certain genetic disorders, particularly autosomal recessive conditions, where both parents must carry a copy of the mutated gene for their child to be affected.

Genetic Testing Recommendations
1. Genetic Counseling: The first step is to consult with a genetic counselor. They can provide personalized advice based on your family history and the specific relationship between your husband’s parents. Genetic counselors are trained to assess the risk of inherited conditions and can guide you through the testing process.

2. Carrier Screening: This is a type of genetic test that can determine if your husband is a carrier for specific genetic disorders. Given that his parents are cousins, it would be wise to test for common autosomal recessive conditions that are prevalent in certain populations, such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. The specific tests recommended may depend on your ethnic background and family history.

3. Consulting a Specialist: If you decide to pursue genetic testing, you should visit a medical geneticist or a genetic counselor. They can help interpret the results and discuss the implications for your future children. You can typically find these specialists in the genetics department of a hospital or a dedicated genetics clinic.

Understanding the Risks
- Increased Risk: While your husband’s brother has a healthy child, it does not eliminate the risk of genetic disorders in future pregnancies. The risk of recessive conditions can be higher in children of consanguineous unions because both parents may carry the same recessive gene variant inherited from a common ancestor.

- Gender Considerations: The risk of genetic disorders is generally not influenced by the gender of the child. However, some genetic conditions may have sex-linked inheritance patterns, but these are less common. Most autosomal recessive conditions affect both males and females equally.

- Generational Factors: Genetic disorders can indeed skip generations, meaning that a child may inherit a condition even if their grandparents did not express any symptoms. This is particularly relevant in consanguineous relationships, where the likelihood of both parents carrying the same recessive gene is increased.

Conclusion
In summary, while the presence of a healthy child in your husband’s family is reassuring, it does not negate the potential risks associated with consanguinity. It is advisable to seek genetic counseling and consider carrier screening to better understand any risks before you conceive. This proactive approach can provide peace of mind and help you make informed decisions regarding your family planning. Remember, genetic testing is a personal choice, and discussing your concerns with a healthcare professional can help you navigate this important decision.

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