Patient: The first child was diagnosed with atypical teratoma/rhabdomyosarcoma with primitive neurodegenerative tumor before the age of 2 years and died after the age of 4 years. Now I am expecting my second child, and I have recently undergone a “chromosome test and karyotype analysis”. I would like to ask the expert to help me to analyze the meaning of the report and what other tests should be done to avoid the tragedy again? What should I pay attention to before and during pregnancy?
Test results: The report reads: Peripheral blood was cultured by PHA stimulation for 72 hours, routine chromosome preparation was performed, and karyotype analysis was performed for G bands. Twenty cells were counted, three karyotypes were paired, the resolution of the bands was 320-400 BPHS, and the number of all 20 chromosomes was 46, with no obvious abnormalities. The present results cannot exclude the presence of minor structural alterations of chromosomes and low percentage of abnormal chimerism. There was no history of similar disease among the close family members in several generations, and there were no obvious sources of pollution in the living and working environment, except that the child had fallen from bed twice when he was young, but there were no symptoms at that time, and no hospital examination was done. Last seen at: Xinhua Hospital Genetic Counseling Clinic
Doctor: I will answer your question from the perspective of medical genetics:
If there is no family history of tumor in both parents of the child, the child is rarely likely to have hereditary tumor. Therefore, the chance of your second child having tumor is not higher than the general population, so there is no need to be overly concerned.
Your living and working environment is pollution-free, as confirmed by routine karyotype analysis, but it is difficult to find a clean slate in modern times, so you both need to pay attention in all aspects.
I wish you good luck and a healthy and lively fat baby!
Patient: Thank you very much Dr. Xue for your detailed and thoughtful reply and good wishes!
I would like to ask you again: 1. The child fell from bed twice, and it seems that he landed on his head at that time, but unfortunately, he did not pay attention to it. The onset of the disease was about six months later, and the MRI examination showed that the cystic occupancy was as large as 6×9×8cm. Is there any possibility of genetic mutation due to trauma? 2. The father of the child has to be exposed to computer for a long time due to his work, will it affect the fetus due to excessive radiation? What should be done to prevent this? I would like to ask the experts to give us an analysis so that we can mend our ways. 3.Once I get pregnant, what targeted pregnancy tests should be done? I hope to get your concern and guidance to avoid the recurrence of tragedy.
Doctor: I will answer your question from a professional point of view:
1. it is impossible for trauma to cause genetic mutation.
2.I can’t say how much radiation caused by computer and how to protect from it, please consult relevant experts as appropriate.
3, about the post-pregnancy examination, you can reflect these conditions to the doctor during the routine examination after pregnancy, and let them decide; since your child is not a genetic tumor, no special genetic examination is needed after pregnancy, unless there is new evidence.
Sorry for the late reply!
Patient: Hello! I have asked you several times on the internet since April this year, and I have received your pertinent and clear answers, thank you very much! Today I would like to tell you that only four months after the child’s premature death, the mother of the child was found to have a teratoma of the left ovary! In early July, she underwent left ovarian cyst debulking + left ovarian plasty + left tubal cyst removal at Shanghai Xinhua Hospital. The pathology report was: mature teratoma. Cystic teratoma of the “left ovary”. Luteal hemorrhage, parametrial cyst of the “fallopian tube tract”.
The child was suffering from PNET/ATRT, how come both mother and child are suffering from the same disease called “teratoma”? Is there any connection in nature? Will the surgery cause the second child to have the same condition again? What preconception tests should be done?
I don’t know when I got infected with cytomegalovirus and rubella virus, but if I got infected during my last pregnancy, will it be the cause of my child’s disease?
Doctor: The comprehensive answer is as follows:
1, the literature clearly documented that cytomegalovirus and rubella virus can induce congenital malformations, of which cytomegalovirus has a special affinity for brain tissue, so the cause of the child’s disease is likely to lie in the viral infection during pregnancy;
2.Teratoma suffered by the mother is not a hereditary tumor and is not associated with the child’s tumor, so it is not consistent;
3. In this case, the risk of getting pregnant again and the measures that should be taken are not hereditary tumors, so it is better to consult a clinician.
I’m sorry for the delay in replying because I’ve been busy lately!