Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.
Center for Preimplantation Genetic Testing, Aalborg University Hospital, Aalborg, Denmark.
Prenat Diagn. 2022 Feb;42(2):212-225. doi: 10.1002/pd.6088. Epub 2022 Jan 17.
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.
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.
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.
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.
本研究旨在调查遗传性疾病植入前遗传学检测（PGT）后妊娠的女性和男性对绒毛膜绒毛取样的选择、选择原因以及对非侵入性产前检测的看法。
自 2017 年至 2020 年，丹麦奥尔堡大学医院植入前遗传学检测中心向接受 PGT 后临床妊娠的患者电子提交了一份问卷。
约一半的患者拒绝进行绒毛膜绒毛取样。拒绝的主要原因是由于该程序导致的流产风险。10 名患者中有 9 名表示，如果提供非侵入性产前检测，他们会选择该检测。一些患者并不知道，为所有孕早期接受的颈项透明层扫描很少能提供与 PGT 所针对的遗传性疾病相关的信息。
可能需要改进有关可用的产前检测和筛查的咨询服务，以帮助患者更好地了解产前检测，并做出更好的决策。非侵入性产前检测受到患者的欢迎，并且可能会增加遗传性疾病 PGT 后选择确认性产前检测的患者数量。
