I am 24 years old and 2 he althy daughters. In October last year, I miscarried my son in the 5th month of pregnancy. The cause is still unknown today. There is a genetic disease in my family - hyperammonaemia. Girls are often only carriers of this disease with us. My uncles died of it at the age of 21. And before that, my father. During my pregnancy, I had a genetic test at the Children's Memorial He alth Institute. I was ruled out as a carrier of the disease and stated that I was clearly not the biological daughter of my deceased father. My mother swears it's impossible, so the only other option is that my father died of something else or that there was a research error. Now I am in the 9th week of pregnancy and I was already supported. I'm afraid it might be a boy and that's why there are complications again. The uncles and father died on the grandmother's side, but my aunt lost her sons either pregnant or shortly after birth. What should I do in this situation? Applying for the re-examination will be refused, because no one will take into account that they may have made a mistake.
The causes of miscarriages are unfortunately very diverse, they are not always genetic diseases; I find it difficult to comment on the result of the genetic test (without reading it), but a mistake is rather unlikely. In the case of repeated miscarriages, you should consider performing a post-miscarriage examination for chromosomal abnormalities (as far as possible) and a diagnosis for thrombophilia.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Prof. extra Aleksandra Jezela-Stanek, MD, PhDHe has been specializing in clinical genetics for several years. Currently, he is an associate professor at the Children's Memorial He alth Institute in Warsaw. Permanently associated with Silesia where, among others in cooperation with testDNA Laboratorium Sp. z o.o. provides telephone consultations to patients who want to discuss the results of genetic tests or talk about the transmission of genetic diseases in the family. In practice, he deals with the diagnosis of genetic causes of birth defects, developmental disorders and pregnancy failures.
Patients have the opportunity to obtain information on the effects of a given DNA test result,the need to take preventive measures and indicate the tests necessary to perform and then diagnose the disease. Ms Docent is appreciated not only for her knowledge and professionalism, but also for a nice disposition towards patients, which was often emphasized by them on internet forums.
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