Genetics and fertility, the 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, and morphology of sperm, which may be associated with genetic factors

Among these are:

• Y chromosome microdeletions, which refers to the loss of small fragments of Y chromosome genes that affect its essential function for proper spermatogenesis

• Klinefelter’s Syndrome, in which the man carries an excess X chromosome, resulting in trisomy XXY.

• Mutations in cystic fibrosis genes that can lead to absent vas deferens and obstructive azoospermia

• Kallman’s Syndrome, which affects the development and hormonal function of the male gonads with delayed puberty and sexual development.

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

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

• Thrombophilias or blood coagulation abnormalities cause recurrent pregnancy loss, are easily diagnosed and are susceptible to medical management.

• Turner Syndrome is caused by the absence of one of the two X chromosomes in a woman (XO aneuploidy), which is associated with premature ovarian failure.

• Polycystic ovary syndrome (PCOS) may have a family component that should warn us of the importance of making an early diagnosis.

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