High risk mothers want non-invasive prenatal testing (NIPT)

29 November 2013

A new study reports on the views of pregnant women about non-invasive prenatal testing (NIPT).
 
NIPT is possible thanks to a method that can identify, extract and analyse small amounts of fetal DNA present in the mother’s blood from early in pregnancy with a high degree of accuracy. Arguably the most significant (in terms of patient numbers) prenatal application is testing for the most common chromosomal disorder, Down’s Syndrome.
 
The implications of NIPT for the UK health service  were first evaluated by the PHG Foundation in 2009. Earlier this month a study was launched to examine the feasibility of introducing NIPT for Down’s syndrome into the NHS Fetal Anomaly Screening Programme (see previous news), including the views and preferences of women.
 
Testing has only recently become commercially available outside the US. A new study is the first to examine women’s motivations and views on commercial NIPT, based on interviews with women in Hong Kong. In HK, as in the UK, there is a universal (public) screening programme for pregnant women to receive serum screening for Down’s syndrome, with women found to be high-risk being offered invasive diagnostic testing, which carries a small but significant risk of miscarriage. NIPT for Down’s syndrome is available privately.
 
45 women receiving private NIPT were interviewed for the study; most were in the high risk category, either because of their age, medical history or as indicated by serum screening, and most were also from higher income brackets. Many had learned about NIPT via the media; information was widely available, though some women felt their own healthcare providers were less well informed about it and did not support them in seeking it. Motivations for undergoing NIPT included:
  • To reduce uncertainty following screening – many women didn’t understand the risk information they received and preferred the ’clear’ positive or negative result from NIPT.
  • To receive reassurance about risk – notably among older women.
  • Ease and safety of testing – whilst most women said they would seek termination of affected pregnancies, they were anxious to protect the safety of the fetus meanwhile.
  • Cost benefits – although most women were not worried by the cost, they did raise the issue of health inequalities if it did not become publicly available.
Study co-author Dr Nina Hallowell of the University of Cambridge and the PHG Foundation said: “It is incredibly important that the impact of new technologies on end-users are evaluated; this study is one of the first of its kind to examine views on NIPT for Down’s syndrome among pregnant women”.
 
Comment: This study raises some important issues as identified by the authors, including the need to address the changing demography of childbearing (women having fewer children and more advanced ages) and the role of NIPT.  Similarly, it will be important to evaluate this in specific contexts, since the view of women in the UK andUS may well differ from those of women in Hong Kong and other countries, depending on the health systems available, different cultural values and expectations, and other variables.

Equitable access to NIPT, an issue raised by the women in this study, will only be possible if testing is offered via universal health systems, which would have financial and other implications, not least the need for education and training about NIPT among relevant health professionals. 

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