Early clinical experience of cell-free DNA-based aneuploidy screening: A survey of obstetric sonologists in Australia and New Zealand.
BACKGROUND
Cell-free DNA-based non-invasive prenatal testing for aneuploidy (NIPT) is now established as the most accurate screening test for trisomy 21. This test became clinically available on a patient-funded basis in Australia and New Zealand in 2013.


OBJECTIVE
To investigate the clinical implementation of NIPT use by members of the Australian Association of Obstetrical and Gynaecological Ultrasonologists (AAOGU) during its first year of local availability.


METHODS
Email invitations with an embedded link to an anonymous online survey were sent to all 140 members of the AAOGU in December 2013.


RESULTS
We received 54 responses to the survey (39% response rate). Two thirds of respondents were subspecialists in obstetric and gynaecological ultrasound or maternal fetal medicine. The majority of respondents had already used NIPT in their practice (94%). There was no significant difference in the proportion of respondents offering NIPT to high-risk women in private versus public practice (95 versus 82%, P = 0.14). However, inequity of access due to cost was the most common ethical issue encountered. The vast majority continued to offer an 11-13 week ultrasound in addition to NIPT. Almost all respondents (96%) were also willing to offer NIPT to low-risk women in December 2013 after appropriate genetic counselling.


CONCLUSIONS
Non-invasive prenatal testing was introduced into clinical care by obstetric sonologists with confidence and in accordance with the current recommended guidelines. These results may help inform future prenatal screening policy and cost-effectiveness analyses.
Department of Perinatal Medicine, The Mercy Hospital for Women, Heidelberg, Australia; Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Australia; Public Health Genetics, Murdoch Children's Research Institute, Parkville, Australia.
Lisa
L
Hui
Mark
M
Teoh
Sofie
S
Piessens
Susan P
SP
Walker
D000782:Aneuploidy; D001315:Australia; D002474:Cell-Free System; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods / Q000706:statistics & numerical data*; D006176:Gynecology / Q000706:statistics & numerical data*; D006297:Health Services Accessibility / Q000191:economics / Q000941:ethics; D006801:Humans; D009520:New Zealand; D009774:Obstetrics / Q000706:statistics & numerical data*; D011247:Pregnancy; D011331:Private Practice / Q000706:statistics & numerical data; D013038:Specialization; D011795:Surveys and Questionnaires; D014463:Ultrasonography / Q000706:statistics & numerical data*; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data
D004247:DNA
Down syndrome; cell-free DNA; clinical implementation; mass screening; non-invasive prenatal testing