Genetics and Fertility, a Key Combination in the Search for Pregnancy.

In men, there are sperm alterations, such as azoospermia, or total absence of sperm in the ejaculate or a significant decrease in the number, motility, morphology of sperm, which may be associated with genetic factors. These include:

• Y chromosome microdeletions, which refers to the loss of small fragments of genes from the Y chromosome that affect its essential functioning for adequate spermatogenesis
• Klinefelter’s Syndrome, in which the man carries an extra X chromosome resulting in an XXY trisomy
• Mutations in the cystic fibrosis genes that can cause absence of the vas deferens and obstructive azoospermia
• Kallman Syndrome, which causes an affectation in the development and hormonal function of the male gonads with pubertal and sexual development delay.

In men, the quality and quantity of sperm is essential to conceive a healthy baby.

In the case of women, there are also diseases of genetic origin that affect fertility and the possibility of carrying a pregnancy to term.

• Thrombophilias, or abnormalities in blood clotting, are a cause of recurrent pregnancy loss, easily diagnosed and susceptible to medical management
• Turner Syndrome is caused by the absence of one of the two X chromosomes in a woman (XO aneuploidy) that is associated with premature ovarian failure.
• The polycystic ovary syndrome. (PCOS) may have a family component that should warn us of the importance of making an early diagnosis.

The woman’s eggs decrease in number and quality as maternal age advances. From the age of 35, genetic studies of the baby during pregnancy have been indicated, such as screening in the first trimester of pregnancy for timely identification of alterations in the number of chromosomes (aneuploidies). As these prenatal genetic tests have become less invasive, they have begun to be indicated in all pregnant women