Genetic counseling prior to assisted reproductive technology

Area of Science:

• Reproductive Medicine
• Human Genetics
• Assisted Reproductive Technology (ART)

Background:

• Reproductive medicine necessitates providing patients with genetic information before assisted reproductive technology (ART).
• The Japan Society for Reproductive Medicine (JSRM) mandates foundational knowledge in reproductive genetics for practitioners.
• Standardized knowledge is essential for patient counseling and informed decision-making.

Purpose of the Study:

• To offer clear explanations on key genetic topics for patients undergoing pre-ART counseling.
• To address patient concerns regarding risks associated with ART and genetic factors.
• To enhance understanding of genetic implications in fertility treatments.

Main Methods:

• The study outlines five critical areas for patient education: (a) ART-related birth defect risks, (b) chromosomal abnormalities, (c) Y chromosome microdeletions (YCMs), (d) sperm chromosomal abnormalities in cases requiring ICSI, and (e) epigenetic alterations.
• Information is presented for straightforward clinical application during pre-ART consultations.

Main Results:

• Chromosome abnormalities affect 0.595%-0.64% of infertile patients.
• Y chromosome microdeletions (YCMs) are found in 2%-10% of men with severe oligospermia.
• A high incidence of sperm chromosomal abnormalities is noted in severe oligospermia and asthenozoospermia requiring ICSI, with some ART-born children showing epigenetic alterations.

Conclusions:

• Essential genetic knowledge is vital for all professionals in reproductive medicine, not solely genetic experts.
• Informed genetic counseling improves patient outcomes and decision-making in ART.
• Continuous education in reproductive genetics is recommended for practitioners.