13 Sep When to go to a genetic laboratory

In the search for motherhood some obstacles may be encountered along the way, such as the case of infertility in women or men. Occasionally, the cause may be due to an anomaly with a genetic or chromosomal origin.

It is at this point that genetic laboratories intervene. They carry out several studies with the aim of analyzing tests related to the genetics of human beings. And among these analytics are those that study a possible cause or relationship with infertility.

Genetic laboratory: in which cases should I go to one?

In general terms, the time to go to a genetic laboratory occurs when there is evidence that sterility or infertility may have an hereditary origin. Depending on what clinical data and family histories indicate, you will need some tests or others.

It is essential to have the relevant genetic analytics. The results obtained from them will decisively determine the course of your assisted reproduction procedure.

Genetic alterations that can cause infertility

Among the main constitutional genetic anomalies (affecting your whole body and diagnosed in a blood sample) that can affect the fertility of a person are genetic alterations. There are two types: chromosomal level and single-gene level.

Chromosomes

Are those that affect the structure or the number of chromosomes.

Numerical chromosomal abnormalities (extra or missing full chromosome) such as Klinefelter syndrome (47, XXY) or 47, XYY are related to infertility are in case of evils. Monosomy X (Turner syndrome) or 46, XY syndrome in case of women are causative of infertility, among others.

Structural chromosomal abnormalities: extra or missing parts of a chromosome can affect fertility (such chromosome and microdeletions).

Chromosomal translocations and inversions do not usually affect the health of the carrier, but they are frequently related to infertility and miscarriages.

Karyotype analysis in blood is nowadays strongly recommended in all couples prior to any assisted reproduction procedure.

Genetic (single-gene)

There are different genetic syndromes that manifest male or female infertility such as fragile X syndrome (FMR1), Kartagener syndrome, disorders of sex development, Kallmann syndrome, ambiguous genitalia and androgen insensitivity, thrombophilia or congenital bilateral absence of vas deferens (CFTR), etc. In some of the syndromes, infertility is only an accompanying manifestation but in others can be the main or only symptome. A good assessment of your clinical history will help to indicate whether or not you need a specific genetic test.

There are other genetic tests that can be performed in a Sperm Sample, recommended in cases of abnormal semen analysis such as sperm Aneuploidy analysis by FISH (chromosomes 13, 18, 21, X and Y) and Sperm DNA fragmentation.

Genetic tests are part of the diagnostic workup of the infertile couple. Your fertility clinic will be able to advise you on the possible genetic analyzes that you may need during your assisted reproduction treatment. It is essential to consult the possible doubts that you have with your fertility professional. Only with a correct diagnosis of your case, the most suitable Assisted Reproduction Technology can be offered.

In addition to the analyzes that we have explained, we have multiple types of tests and analytical tests adapted to each medical need. Check our services or get in touch with us if you want to expand your information on when to go to a genetic laboratory. We will help you!