Genetic counseling prior to assisted reproductive technology

Abstract

Abstract Background Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients prior to assisted reproductive technology (ART). Japan Society for Reproductive Medicine (JSRM) requires doctors involved in reproductive medicine to have standard knowledge of reproductive genetics and knowledge of reproductive medicine, which is covered in their publication, “required knowledge of reproductive medicine.” Methods With the aim of providing straightforward explanations to patients in the clinical situation at pre‐ART counseling, we provide the following five topics, such as (a) risk of birth defects in children born with ART, (b) chromosomal abnormalities, (c) Y chromosome microdeletions (YCMs), (d) possible chromosomal abnormal pregnancy in oligospermatozoa requiring ICSI (intracytoplasmic sperm injection), and (e) epigenetic alterations. Main findings The frequency of chromosome abnormalities in infertile patients is 0.595%‐0.64%. YCMs are observed in 2%‐10% of severe oligospermic men. High incidence of spermatozoa with chromosomal abnormalities has been reported in advanced oligospermia and asthenozoospermia that require ICSI. Some epigenetic alterations were reported in the children born with ART. Conclusion Certain genetic knowledge is important for professionals involved in reproductive medicine, even if they are not genetic experts.

Keywords

• chromosomal abnormalities
• epigenetics
• genetic counseling
• intracytoplasmic sperm injection
• Y chromosome microdeletions