How genetic testing will change pregnancy forever

Tomorrow's genetic technology will forever change womens' experience of pregnancy - but raise some tricky ethical questions that clinicians will have to tackle. Photo / 123RF

Tomorrow's genetic technology will forever change womens' experience of pregnancy - but raise some tricky ethical questions that clinicians will have to tackle, a new report finds.

The review, funded by the New Zealand Law Foundation, highlights the thorny flip-side to the notion that more information is better when it comes to pregnancy.

With new approaches that allowed prenatal genetic testing much earlier, informed consent and professional advice would become even more important, author and Otago University bioethicist Dr Jeanne Snelling said.

"Genetic testing in the reproductive context is a particularly high-stakes endeavour," she said.

"It directly affects a woman's experience of pregnancy, and may contribute to a decision not to transfer an embryo or to terminate an established pregnancy."

Technologies investigated in the report include non-invasive prenatal testing (NIPT), which enabled foetal information to be gleaned from a maternal blood test as early as 10 weeks into pregnancy, chromosomal microarray testing, which could be performed as early as 18 weeks, and pre-implantation genetic testing of IVF embryos involving the latest high-resolution, next generation sequencing.

"A common feature of all of these tests is that they enable an increasing and significant amount of health-related information to be derived, compared with traditional prenatal tests, and all are associated with particular technical, ethical and legal challenges."

Her report considered how the new measures would bring debate around their implications.

It also looked at the potential for expanded screening and testing programmes becoming more routine, and the implications for informed consent, as well as concerns regarding the effects of extended reproductive genetic testing on people with disabilities.

Snelling said there was a "common assumption" that more information is always better.

"That is not always borne out in the empirical studies of women's experiences.

"One recurring theme is the pressing need to ensure women and their partners have a genuine choice to accept or decline expanded screening or testing, and that those who do undertake it are provided with the necessary professional advice to ensure they are sufficiently informed, prepared and supported throughout."

Expanded screening and testing was likely to not only affect reproductive outcomes, but also women's experiences of conception and pregnancy in the future.

The review pointed out how, in some instances, parents may want to know too little about a future child's health, while in others they may seek to ask too much.

Further complicating the picture was the fact that much of the information that could be gained at the embryonic stage was shrouded in uncertainty, was likely to cause anxiety regarding future fetal health, and could make pregnancies even more tentative than in the past.

Stated the review: "Ultimately, the literature reviewed indicates that most prospective parents who elect such testing are generally seeking assurance that their baby will be 'healthy enough', rather than seeking a perfect, made-to-order, baby."

But this new reproductive future nonetheless came with complex challenges for women who choose to access the tests, clinicians who provide them, and policy makers responsible for their oversight.

"The major issue is how all these technologies should be integrated into clinical practice here," Snelling said.

It was hoped the new research would offer a starting point for clinicians and policy-makers to find a way forward.