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Genetics and fertility, the key combination in the search for pregnancy

Genetics plays a fundamental role in the process of looking for pregnancy. We will tell you about the possible genetic causes of subfertility and the available treatments to prevent them

When discussing infertility, factors such as advanced maternal age, deterioration in semen quality, toxic habits in the couple, and menstrual cycle and reproductive system surgeries are the ones we usually use as examples. We rarely think that couples may be carriers of a genetic disorder that makes natural conception difficult.

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.

Yes. Although genetic diseases cannot be cured, an early diagnosis can allow adequate counseling and appropriate and timely treatment. Nowadays, some genetic studies are even indicated before starting the search for pregnancy to determine the risk of genetic problems in the offspring.

Even in healthy couples, the study of mutation carriers (gains or losses in genes that are only expressed if both members of the couple carry it) can prevent the appearance of orphan diseases with disastrous consequences for the newborn in its early stages that, if detected, would be entirely preventable.

The PRECONCEPTION study or test is a blood study that analyzes the presence of recessive or X-linked mutations in future parents to assess the risk of genetic disease associated with these mutations in their offspring.

Suppose some of the future parents are found to be carriers of one or more of the diseases studied. In that case, the genetics laboratory will recommend a genetic counseling consultation to establish the degree of risk and the possible therapeutic and reproductive options.

Gestational ultrasound at the end of the third month of pregnancy, associated with a study of maternal blood to evaluate free fetal DNA, can help us timely diagnose alterations in the formation of the baby and diseases linked to the number of chromosomes.

The Baby test or study of free fetal DNA helps identify pathologies such as Down syndrome in the early stages of pregnancy.

If you require more information on this subject, contact our genetics experts at the following number +57 313 6096603,

our offices:

• Medellin: Tel. +57(4) 268 80 00

• Bogota: Tel. +57(1) 746 98 69

• Pereira: Tel. +57(6) 340 17 09

• Cartagena: Tel.+57(5) 693 0434

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