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

Toft CLF^1,2,3, Diemer T^2,4, Ingerslev HJ^2,5, Pedersen IS^1,2,3, Adrian SW⁶, Kesmodel US^2,4,5.

Prenatal Diagnosis, 2022, Volume 42, pages 212-225.

¹Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark

²Center for Preimplantation Genetic Testing, Aalborg University Hospital, Aalborg, Denmark

³Department of Clinical Medicine, Aalborg University, Aalborg, Denmark

⁴Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark

⁵Fertility Unit, Aalborg University Hospital, Aalborg, Denmark

⁶Department of Culture and Learning, Aalborg University, Aalborg, Denmark

DOI: 10.1002/pd.6088

PMID: 34997771

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 ach- ieved 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.

Click here to obtain a PDF-version of the article