Genetic Mutations and Miscarriage: What It Means for Fertility

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Some mutations significantly raise the risk of miscarriage, but understanding them can help reduce that risk through proper medical guidance, hormonal therapies, or nutritional supplements. A geneticist and lead researcher at MyGenetics, Irina Kolesnikova, shared insights with socialbites.ca about this topic.

She explained that mutations in genes connected to the production of the female sex hormone estrogen receptors can heighten miscarriage risk. Importantly, these risks can be mitigated by maintaining a healthy lifestyle, using supplements under professional supervision, and, when needed, receiving hormone treatments prescribed by a physician, according to Kolesnikova. (Attribution: MyGenetics)

The expert noted that some mutations carry greater danger. For instance, harmful changes in the FMR1 gene, which can contribute to Fragile X syndrome, or a deletion in the AZF gene in men, may lead to serious challenges conceiving. With this genetic knowledge, doctors can propose alternatives such as artificial insemination, donor sperm or eggs, embryo donation, or adoption. (Attribution: MyGenetics)

Fragile X syndrome is linked to mild to moderate intellectual disability and behavioral differences in children. The condition arises from a genetic mutation observed in roughly 1 in 4,000 males and about 1 in 8,000 females, though carrier rates vary by population. Early detection and counseling help families explore options and plan for the future. (Attribution: MyGenetics)

Following assisted reproductive techniques, many couples still experience natural conception. Some studies suggest that about one in five pregnancies occur naturally after a birth achieved with artificial insemination, underscoring the interplay between genetics, fertility, and biology in real-world outcomes. (Attribution: MyGenetics)

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