Patient's question:
Dear Doctor,Hello, I would like to ask you a question and hope you can help me. I am a patient with a balanced chromosomal translocation. The test results show: 46 XY inv(9). My wife had two or three miscarriages before giving birth to a daughter, who is now almost 13 months old. She looks smart, lively, and adorable, just like a normal child. However, I have read many books and searched for a lot of information online about children of patients with balanced chromosomal translocations... I am really worried. Please help me analyze the situation. Is my daughter completely normal? Is there anything that needs to be checked? Thank you.
Doctor's answer:
Chromosomal diseases can be inherited by the next generation. If there are some physical deformities, it is best to have the most comprehensive examination before pregnancy. If your chromosomes have a balanced translocation, it does not affect natural conception, but it is prone to embryonic arrest or miscarriage. Severe cases may lead to fetal malformations, and the probability of passing it on to boys or girls is the same. After natural conception, prenatal diagnosis can be performed in the second trimester to rule out the possibility of fetal malformations. If normal, the pregnancy can continue. Alternatively, the third-generation IVF technology can be used, where normal embryos are selected for transfer through gene probe technology. If it is a balanced translocation in the male, it is necessary to check whether the semen is normal. If it is abnormal, it is definitely caused by chromosomes. If it is very poor, only the third-generation IVF technology can be used for assisted reproduction.