Genetic counseling prior to assisted reproductive technology

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.

The impact of male factors and their correct and early diagnosis in the infertile couple's pathway: 2021 perspectives

“…As for genetic tests, it should be considered that severe OAT can be associated with autosome translocations that potentially increase the risk for an unbalanced karyotype in embryos [ 29 ]. It is worth stressing that due to multi-faceted interactions between karyotype abnormalities, general and reproductive health, a careful evaluation and a multidisciplinary approach in this setting is advisable [ 30 – 32 ].…”

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

“…Since the loss of genetic content in the AZFa region is a key determinant of azoospermia, the detection of microdeletions in the AZF region is of great significance from a diagnostic point of view. Deletion screening will help clinicians determine the causes of male infertility and develop reasonable strategies of ART for patients ( Krausz, 2020 ; Katagiri and Tamaki, 2021 ). Since these deletions are 100% passed on to male offspring born through assisted reproduction, testing for the deletions will enable couples to make informed choices regarding the continuation of male infertility in their offspring.…”

“…In order to avoid such a situation, the patients with this type of microdeletion can be selected without preimplantation genetic diagnosis (PGD) technology—commonly known as “third-generation IVF”—to select embryos without Y chromosomes, so that the inheritance of the microdeletion can be blocked. At the same time, to avoid unnecessary treatment and vertical transmission of genetic defects, before using intracytoplasmic sperm injection (ICSI) for patients with severe spermatogenesis defects, they should carefully evaluate chromosomal abnormalities, perform Y chromosome microdeletion screening and use in vitro fertilization (IVF)- embryo transfer genetic counselling before proceeding ( Krausz and Riera-Escamilla, 2018 ; Katagiri and Tamaki, 2021 ).…”

Society for Maternal-Fetal Medicine Consult Series #60: Management of pregnancies resulting from in vitro fertilization

“…We suggest that genetic counseling be offered to all patients undergoing or who have undergone IVF with or without ICSI (GRADE 2C). 31 What are the different types of preimplantation genetic testing?…”