Genetic and Epigenetic Risks of Male Infertility in ART

Area of Science:

• Reproductive medicine and genetics.
• Developmental biology and epigenetics.
• Human genetics and genomics.

Background:

• Assisted reproductive technologies (ART), particularly intracytoplasmic sperm injection (ICSI), have revolutionized male infertility treatment.
• ART bypasses natural selection, potentially transmitting genetic and epigenetic abnormalities.
• Male infertility is multifactorial, involving genetic defects, chromosomal issues, and Y-chromosome microdeletions.

Purpose of the Study:

• To review molecular insights into the genetic and epigenetic risks associated with ART.
• To highlight the clinical significance of these risks for reproductive counseling.
• To discuss ethical considerations for future generations concerning ART-related genetic and epigenetic alterations.

Main Methods:

• Literature review synthesizing recent advancements in ART research.
• Analysis of next-generation sequencing and sperm omics data.
• Examination of evidence linking ART to epigenetic reprogramming disruption.

Main Results:

• ART can lead to the transmission of genetic abnormalities, including gene mutations and copy-number variations.
• Evidence suggests ART disrupts epigenetic reprogramming in gametogenesis and early embryogenesis.
• Offspring may exhibit imprinting disorders and altered gene expression patterns due to ART.

Conclusions:

• Understanding the molecular basis of ART risks is crucial for informed reproductive counseling.
• ART necessitates careful consideration of long-term genetic and epigenetic consequences for offspring.
• Ethical frameworks must evolve to address the implications of ART for future generations.