BACKGROUND: Recurrent pregnancy loss linked to the methylenetetrahydrofolate reductase (MTHFR) genetic mutation is common in infertility journeys. Identifying these mutations and offering targeted treatments can save pregnancies and assist in the transition to motherhood. However, the psychological effects of past miscarriages often persist, highlighting the need for a clear care pathway. This study explores the existential-phenomenological aspects of transitioning to motherhood after genetically determined infertility, emphasising the importance of understanding human existence to gain insights into these lived experiences. METHODOLOGY: J. A. Smith's Interpretative Phenomenological Analysis approach, in combination with the framework of Daseinsanalysis developed by A. Holzhey-Kunz was employed to guide the research process. Hence, this paper presents an in-depth exploration of the lived experience of 10 women's transition of motherhood after a genetically induced experience. FINDINGS: The research reveals that having genetically defined infertility and its treatment as a background gives transition to motherhood a different start, which may affect the way it is experienced. Women in our study tend to disconnect from their prior infertility experience, leaving it not integrated into a constructive and meaningful life story. Moreover, the intense fear of loss, coupled with the perceived need to 'fix' their bodies to ensure the baby's survival, overshadows these women's pregnancies. Finally, the transition to motherhood is existentially attuned with death, uncertainty, along with the non-transparency and fragility of the body.