Abstract
PurposeThis study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT).MethodsA 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.ResultsAlmost 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.ConclusionThis 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.
Highlights
Individuals carrying a balanced structural chromosomal abnormality are at risk for infertility and may produce gametes with an unbalanced karyotype
In a previous retrospective study in recurrent miscarriage couples carrying a structural chromosomal abnormality, we found that there is no difference in obstetric history of couples who opt for Preimplantation genetic testing (PGT) compared with those that decline PGT after extensive genetic counselling [12]
Two couples dealt with the termination of an unbalanced pregnancy and chose PGT to avoid this and two other couples who did not experience a termination of pregnancy (TOP) still mentioned preventing TOP as a perceived advantage of PGT
Summary
Individuals carrying a balanced structural chromosomal abnormality are at risk for infertility and may produce gametes with an unbalanced karyotype. An unbalanced conceptus may lead to failure to implant; early or late miscarriage; or more seldom an ongoing pregnancy of a foetus with an unbalanced karyotype resulting in physical or mental disabilities in the child [1, 2]. The risk for an unbalanced karyotype in offspring depends on the chromosomes involved and the type of chromosomal abnormality [3]. Prenatal diagnosis is offered to couples carrying a chromosomal abnormality. PND is indicated during an ongoing pregnancy to allow for termination of pregnancy (TOP) in case of an unbalanced karyotype. Preimplantation genetic testing (PGT) is an alternative to
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