AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing
Part 4: Oral/poster

AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing

Zara Richmond1, Ron Fleischer1, Maya Chopra1, Jason Pinner1, Mario D’Souza2, Yelena Fridgant2, Jon Hyett3

1Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia; 2 Sydney Local Health District Clinical Research Centre, Sydney, Australia; 3Maternal-Fetal Medicine Unit, Royal Prince Alfred Hospital, Sydney, Australia

Background and objective: The availability of non-invasive prenatal testing (NIPT) has resulted in a paradigm shift in prenatal screening for Down syndrome and other common aneuploidies. NIPT has been validated in both high and low risk populations. The test has now reached a price-point (under AU$500) where consumer demand is high and services need to devise a model under which NIPT is made available. This article aims to describe our experience from 2012 as the first centre in Sydney to offer NIPT, and the progression towards the adoption of a contingent model of aneuploid screening in the first trimester.

Methods: An audit of the first 118 NIPT patients was undertaken by retrospective file review. Following this, a prospective study was undertaken by questionnaire and structured interview in an additional 84 NIPT patients. Maternal anxiety at the time of NIPT and 1 week following results delivery was measured using the Spielberger State-Trait Anxiety Inventory (STAI).

Results: (I) Contingent screening is a model that will increase the detection rate of Down syndrome beyond that of combined first trimester screening as well as reducing the number of miscarriages related to invasive testing; (II) receiving a low risk NIPT result leads to a significant decrease in maternal anxiety (P<0.01) and alters decision making regarding invasive testing; (III) we have identified women’s motivations for NIPT beyond that of their first trimester screening result.

Conclusions: Following review of the first cohort of patients to undergo NIPT, we established a contingent model of aneuploidy screening in the first trimester. Under this model, the offer of NIPT is contingent on the patient’s result from combined First trimester screening. NIPT is offered to patients with an aneuploidy risk higher than 1:1,000, though the potential benefit of invasive testing for those with a risk higher than 1:50 is also discussed. Our results demonstrate that NIPT is considered a valuable addition to prenatal care by women with either high risk or low risk combined first trimester screening results. This is important data that represents that attitudes and preferences of women regarding aneuploid screening.

Keywords: Non-invasive prenatal testing (NIPT); maternal anxiety; contingent screening

Cite this abstract as: Richmond Z, Fleischer R, Chopra M, Pinner J, D’Souza M, Fridgant Y, Hyett J. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing. Ann Transl Med 2015;3(S2):AB148. doi: 10.3978/j.issn.2305-5839.2015.AB148

Article Options

Download Citation

Share