My husband suffers from azoospermia, I know he needs to do a karyotype, AZF and CFTR test. Please tell me, do I also need to undergo any genetic tests? What abnormalities in my husband's results may be a contraindication to IMSI? I'll be grateful for the information. Regards.
If the husband's genetic tests are in progress, it is worth waiting for their results and then establishing further diagnostic procedures. For example, if your husband has a mutation (or two mutations) in the CFTR gene, you should also perform such a test due to the possible high risk of cystic fibrosis or other CFTR-related disease in the offspring.
Of course, all arrangements should not be made via the Internet, genetic advice is recommended at the Genetic Clinic with a doctor specializing in clinical genetics. Ideally, before starting genetic diagnosis, and if it did not take place then, obligatory in the event of receiving an incorrect result of the husband's genetic tests.
It is also worth discussing the correct test results with a specialist regarding possible indications for extending their scope. The IMSI procedure is not routinely used. The doctor who attends the gynecologist treating the infertile couple, after consulting the laboratory, may propose it in special cases - and it is this doctor that you should talk to about the possible legitimacy of such a procedure.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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