Outcomes of Couples After Failed PGD Management: A Single-Center Study at the Paris PGD Center (Antoine Béclère - Necker)

Preimplantation genetic testing (PGT) is a genetic diagnostic procedure performed on one or a few cells biopsied from embryos created through in vitro fertilization (IVF), prior to uterine transfer. The primary aim of PGT is to enable couples at confirmed risk of transmitting a genetic or chromosomal disorder considered to be of particular severity to have a child unaffected by the condition. By offering this possibility, PGT also represents an alternative to prenatal diagnosis (PND) and helps reduce the use of medical termination of pregnancy (MTP) when fetal abnormalities are detected.

In France, PGT is strictly regulated by bioethics laws and the Public Health Code (Article L2131-4). It is authorized only on an exceptional basis, under conditions defined by legislation, for couples at risk of transmitting a serious genetic disorder recognized as incurable at the time of diagnosis (Agence de la biomédecine, 2023). This regulatory framework aims to ensure the ethical and controlled use of this technology. Introduced in France in 1999, PGT is currently performed in only five multidisciplinary centers authorized by the Agence de la biomédecine (ABM): Grenoble, Montpellier, Nantes, Paris, and Strasbourg.

Indications for PGT are diverse and reflect a wide range of medical and familial contexts. They include histories of recurrent pregnancy loss, multiple medical terminations of pregnancy, the presence of a severe genetic disorder in one member of the couple or their offspring, as well as situations in which relatives have been diagnosed with a serious disease or disability, sometimes with late onset. These circumstances are often associated with complex psychological experiences, marked by repeated trauma and high levels of stress. In this context, psychological support is essential throughout the procedure to help couples manage uncertainty and potential treatment failure.

Moreover, despite technological advances, success rates of PGT remain limited. Consequently, the assisted reproductive technology pathway involving PGT represents a major source of stress and may generate significant distress and uncertainty for couples. This process affects individuals on multiple levels: personal, relational, familial, and societal. A better understanding of these factors may allow clinical interventions to be adapted in order to more effectively support couples throughout their care pathway. When the PGT process does not result in the birth of a child, couples are faced with difficult decisions regarding the continuation of their parental project. Several options may then be considered: (i) attempting a natural pregnancy, with or without prenatal diagnosis; (ii) seeking PGT treatment abroad; (iii) considering gamete donation; or (iv) opting for adoption. In some cases, couples choose to discontinue their parental project altogether. Although these trajectories are individual, they are often influenced by medical, social, economic, and psychological factors.

• Reason for discontinuation of preimplantation genetic diagnosis (PGD) care [Time frame: Baseline]
• Continuation of parental project after PGD failure [Time frame: Baseline]
• Post-PGD pathways followed after failure of PGD care [Time frame: From PGD failure to questionnaire completion]
• Occurrence of at least one pregnancy after PGD failure [Time frame: From PGD failure to questionnaire completion]
• Pregnancy occurring at least 3 years after PGD failure [Time frame: At least 3 years after PGD failure]
• Time to first pregnancy after PGD failure [Time frame: From PGD failure to date of first pregnancy]