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Updated: Aug 4, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy
Celine Lewis1,2, Melissa Hill3,4, Lyn S Chitty3,4
1North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. celine.lewis@ucl.ac.uk.
Objective:
To explore women's attitudes towards non-invasive prenatal testing (NIPT) and determine factors influencing their decisions around uptake of NIPT.
Method:
We conducted qualitative interviews to assess knowledge, attitude and deliberation amongst women offered NIPT in a public health service. In total, 45 women took part in telephone interviews (79% participation rate).
Results:
Most women could recount the key aspects of NIPT discussed during pre-test counselling but had variable knowledge about Down syndrome. Analysis of women's attitudes towards undergoing NIPT revealed three dominant factors they considered when reflecting on the test: (1) how NIPT compared with alternative testing options, (2) reflections on coping and (3) moral or religious values. Exploring the deliberative process revealed the different paths women take when making decisions. For some, it was an extension of the decision to have Down syndrome screening; some considered it early on following the booking-in appointment; others made step-wise decisions about NIPT when it became relevant to them.
Conclusion:
Our findings support the importance of personalised counselling, whereby women and their partners have the opportunity to reflect on the implications of the test results in the context of their own lives and values. Our data highlight the influence of personal circumstances on decision-making. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
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