Patients' choices and opinions on chorionic villous sampling and non‐invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross‐sectional questionnaire study

Abstract

Objective The aim of this study was to investigate choices of and reasoning behind chorionic villous sampling and opinions on non‐invasive prenatal testing among women and men achieving pregnancy following preimplantation genetic testing (PGT) for hereditary disorders. Methods A questionnaire was electronically submitted to patients who had achieved a clinical pregnancy following PGT at the Center for Preimplantation Genetic Testing, Aalborg University Hospital, Denmark, between 2017 and 2020. Results Chorionic villous sampling was declined by approximately half of the patients. The primary reason for declining was the perceived risk of miscarriage due to the procedure. Nine out of 10 patients responded that they would have opted for a non‐invasive prenatal test if it had been offered. Some patients were not aware that the nuchal translucency scan offered to all pregnant women in the early second trimester only rarely provides information on the hereditary disorder for which PGT was performed. Conclusion Improved counseling on the array of prenatal tests and screenings available might be required to assist patients in making better informed decisions regarding prenatal testing. Non‐invasive prenatal testing is welcomed by the patients and will likely increase the number of patients opting for confirmatory prenatal testing following PGT for hereditary disorders.

Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing

“…Due to the limitations of fetal imaging and variable expressivity, fetal imaging should be used cautiously in determining the accuracy of PGT‐M. It is particularly important to remain aware that patients may have a false sense of reassurance from normal appearing prenatal ultrasounds, as evidenced in a recent qualitative study of patients undergoing PGT‐M in Denmark 8 …”

“…A recent qualitative study from Denmark addressed patient opinions of CVS after PGT‐M; nearly 50% pursued confirmatory testing. Reasons why individuals did not pursue confirmatory testing included risk aversion and a sense of reassurance from normal ultrasounds, despite the risk for conditions without prenatal imaging findings 8 …”

“…Reasons why individuals did not pursue confirmatory testing included risk aversion and a sense of reassurance from normal ultrasounds, despite the risk for conditions without prenatal imaging findings. 8 By categorizing the types of disorders that PGT-M is used for, our study aims to identify both patient and disorder-related factors that may influence a patient's choice to pursue prenatal diagnostic testing. The goal of this research is to expand the literature surrounding indications for PGT-M and to inform patient counseling regarding PGT-M and its limitations.…”

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants

“…Nine out of 10 expressed a wish for a confirmatory test of the pregnancy if a noninvasive alternative was available. 14 Therefore, efforts have been made to develop NIPT options for CF using either fetal cell-free DNA or circulating trophoblasts in maternal blood. [15][16][17] The procedure for NIPT using fetal cell-free DNA was initially based on detection or exclusion of the paternal variant allele in maternal plasma.…”

“…These findings were echoed in a questionnaire study among Danish PGT users, where 55% chose CVS to confirm transfer of an unaffected embryo. Nine out of 10 expressed a wish for a confirmatory test of the pregnancy if a noninvasive alternative was available 14 . Therefore, efforts have been made to develop NIPT options for CF using either fetal cell‐free DNA or circulating trophoblasts in maternal blood 15–17 …”