Genetic screening for male and female-related infertility problems

Vuylsteke Stiene, 2025
When a couple has been trying to conceive for over a year, a genetic factor may sometimes be the cause. Infertility is very common, leading more couples to seek help from fertility clinics. During this process, various risk factors are evaluated. These include the use of alcohol, drugs and nicotine, as well as certain medications that can negatively affect conception. It is also essential to investigate reproductive health disorders. This evaluation is elaborated in both partners, as successful conception relies on the proper functioning of both individuals. To further support the couple in their journey to pregnancy, several effective treatments are available. These primarily involve techniques that facilitate the fusion of sperm and oocyte. In many cases, this has a positive outcome in which the couple manages to get pregnant. In some couples, recurrent failure of these treatments occurs. At this stage, genetic testing can be highly beneficial, which was the primary focus of this thesis. Research has shown that even minor errors in certain genes can interfere with fertilization or early embryo development in various ways. However, genetic screening for infertility is complex and presents several challenges. The human genome is vast and not every gene plays a role in fertility. This makes it essential to conduct extensive studies to identify the relevant genes linked to infertility. Additionally, since both partners contribute to conception, it is crucial to consider genetic differences between the sexes. Screening was therefore carefully organized by sex and by groups of genes known to negatively influence fertility. For example, some genes are associated with the maturation process of female oocytes, while others are more likely to be essential for the fertilization process or the embryo development. This thesis also explored a benefit from enhanced screening approaches by integrating all known infertility-causing genes for both men and women in one gene panel. If genetic variants are identified within these couples, additional treatment options may become available to help them conceive their own genetic children. Therefore, genetic research holds significant social value. Infertility can be a deeply emotional journey, especially if several treatments recurrently failed in the past. By focusing on identifying the underlying causes of infertility, fertility clinics can offer effective treatment methods if possible. If not, treatment options using the appropriate donor cells may be considered. This empowers couples to move beyond their despair and gain a clearer understanding of their chances for conception. Additionally, this approach can help reduce the risk of overtreatment.

Promotor Björn Heindryckx
Opleiding Geneeskunde
Kernwoorden genetics Infertility male female oocyte maturation arrest fertilization failure embryo development arrest