Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

Abstract

Purpose This study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT). Methods A qualitative exploratory study was conducted using semi-structured dyadic interviews with 13 couples (N = 26) carrying a structural chromosomal abnormality. All couples had an informative consultation in our PGT centre in the Netherlands. Results Almost all couples considered PGT or natural conception combined with prenatal diagnosis (PND) as the only two reproductive options. Among several considerations mentioned, the majority indicated that the wish to increase the chance of a successful pregnancy was the most important motive to opt for PGT. All couples who opted for PGT had first tried to conceive spontaneously and entered the PGT programme because of their adverse experiences during these attempts (infertility, recurrent miscarriage, termination of pregnancy, birth of an affected child). Couples that refrained from PGT were of advanced maternal age and expressed the long trajectory of PGT as the main reason to refrain. If conceiving spontaneously would not lead to an ongoing pregnancy, these couples also indicated that they would use PGT. Conclusion This study shows that couples carrying a structural chromosomal abnormality consider PGT and spontaneous conception with PND as relevant reproductive options. They are looking for the option that is in their opinion the fastest way to establish a successful pregnancy. Information on the perceived pros and cons of PGT or spontaneous conception in these couples can help to optimize counselling and psychological support during the decision-making process.

Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples

“…The main motive to opt for PGT was the desire to have a healthy child which is in line with results of previous studies (Genoff Garzon et al 2018 ). A previous study on couples with a balanced chromosomal rearrangement showed that this group perceived PGT as the fastest way to establish an ongoing pregnancy (De Krom et al 2015 ; De Krom et al 2020 ). However, in our study, couples mainly opted for a natural conception without genetic testing to avoid a medical trajectory and they perceived this as the fastest way to establish a pregnancy.…”

Lived experience of recurrent miscarriage: women and their partners’ experience of subsequent pregnancy and support within an NHS specialist clinic – a qualitative study

“…Cytogenetic analysis identifies if the pregnancy had normal or abnormal genetics and the sex of the pregnancy. This information can help identify the likelihood of a genetic abnormality in one or both parents that might be contributing to RM 5 8…”