Genetic testing is not recommended in the same way for every patient. The choice of tests depends on family history, reproductive difficulties, previous pregnancies, and the specific medical question we are seeking to answer.
A genetic consultation is the starting point when an inherited or chromosomal risk is suspected. We review the personal and family history, previous results, and the couple’s reproductive history to determine whether testing is necessary and which method is most appropriate.
Karyotyping assesses the number and structure of the chromosomes. It may be recommended in cases of recurrent miscarriage, severe disorders of spermatogenesis, a family history of chromosomal disorders, or other specific medical indications.
In cases of azoospermia, severe oligozoospermia, or suspected congenital obstruction, testing may include karyotyping, analysis of microdeletions in the AZF regions of the Y chromosome, and testing for variants in the CFTR gene. The results can support diagnosis, prognosis, and the choice of reproductive approach.
When there is a known genetic condition in the family or one partner is a carrier of a specific genetic variant, targeted testing may be recommended. In recessive conditions, the other partner often also needs to be tested.
PGT-A assesses the number of chromosomes in the tested embryonic cells and can identify the presence of an additional or missing chromosome. The test is not required for every IVF procedure and is considered according to age, reproductive history, and the expected benefit.
PGT-M is used when a specific genetic variant associated with an inherited condition has been identified. The analysis is developed individually for the particular family and allows embryos to be differentiated according to the genetic variant being tested.
PGT-SR may be considered when one partner carries a translocation, inversion, or another structural chromosomal rearrangement. The aim is to identify embryos with an unbalanced amount of genetic material.
A consultation may be appropriate when there is an inherited condition in the family, known carrier status for a genetic variant, recurrent pregnancy loss, severe male factor infertility, or an abnormal finding from a previous genetic test.
Not always. For some conditions, it is sufficient to test one partner initially, while in other cases both partners need to be assessed in order to determine the reproductive risk.
Karyotyping examines the number and structure of the chromosomes. A molecular genetic test looks for changes in a specific gene or group of genes and addresses a more targeted medical question.
No. PGT is recommended only when the information it may provide could be relevant to embryo selection or to reducing a specific genetic risk.
PGT-A assesses the number of chromosomes. PGT-M looks for a specific genetic variant, while PGT-SR is used when one of the partners has a known structural chromosomal rearrangement.
No. PGT examines specific genetic or chromosomal changes, but it cannot exclude all conditions or pregnancy complications. Recommended pregnancy monitoring therefore remains necessary.
A mosaic result indicates that cells with different chromosomal compositions are present in the tested sample. Its significance is assessed individually according to the type of finding, the laboratory method used, and the available embryos.
No. NIPT assesses the probability of certain chromosomal abnormalities, whereas amniocentesis and chorionic villus sampling allow diagnostic testing of fetal or placental material.
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