Choice, not ‘Reflex’: Routine Prenatal Screening

Vardit Ravitsky warns that routine Non-invasive Prenatal Screening can undermine women’s reproductive autonomy and she calls for broad societal changes and policies that help promote individual choice.


A recent paper published in Genetics in Medicine, describes a new method for implementing non-invasive prenatal screening. Non-invasive prenatal screening analyzes cell-free fetal DNA in maternal blood and allows for the detection of genetic conditions in the fetus as early as weeks 10-11 of pregnancy. Currently, this test is offered as second-tier screening to women who are identified from initial screening tests as having a high chance of carrying a fetus with trisomy 21, 13, or 18. Non-invasive prenatal screening is more accurate than traditional screening. For example, it detects 99% of trisomy 21 cases in comparison to traditional screening that only detects 85% of cases. Yet, the results of non-invasive prenatal screening, used as a second step after initial screening, are typically not available to women until their second trimester.  The delay is caused by waiting for the results of the initial screening test, and an additional appointment for a blood test. The proposed method for implementing non-invasive prenatal screening, called “reflex testing” involves taking extra blood at the time of the initial screening test and automatically sending this blood for non-invasive prenatal screening for women who have more than a 1 in 800 chance of carrying a fetus with a genetic abnormality. However, women are not notified of their initial screening results. Women are only informed of their results following the non-invasive test.

The reflex testing method for non-invasive prenatal screening is a step towards the “routinization” of prenatal screening. Some argue that this method prevents unneeded anxiety, since many women who would be informed of a ‘high-risk’ result are spared the excruciating waiting period until they get the more reliable screening test result. Routinization is meant to enhance women’s access to screening, and consequently their autonomy to make decisions about the management of their pregnancy.

Image description: White background. A person’s hand facing upwards and making a fist, while another person wearing off-white latex gloves holds the wrist and touches fingers, as if giving instructions prior to blood being drawn.

However, reflex testing faces enormous challenges regarding informed consent. Ample evidence shows that the clinical implementation of an appropriate process of informed consent for prenatal screening has been largely unsuccessful for decades. Furthermore, reflex testing proposals make little reference to the importance of counselling and meeting the requirements of informed consent.

Why has informed consent for screening been such a lost battle? First, the counseling needed for a proper consent process is resource intensive. In reality, discussions preceding screening are short and rarely led by trained genetic counselors. Second, clinicians’ fear of possible litigation and liability following the birth of a child with a condition leads them to prefer routine screening and as a result, to present it to women as an obvious choice that requires little thinking. Third, pregnant women themselves tend to prefer the narrative of ‘screening to ensure the health of my baby,’ than to face the fear of an undesired result, considering that their only options are preparing for birth or terminating an otherwise desired pregnancy.

These barriers to informed consent create a significant challenge to reproductive autonomy. If pregnant women receive information about their fetus that they never desired to get, their autonomy is being violated, not promoted. Non-invasive prenatal screening exacerbates this reality because it means women may be exposed to unsolicited information that is not just statistical (chances of their fetus being affected) but, at least for trisomy 21, very close to certain. Women may find this offensive and damaging.

What can be done to protect reproductive autonomy as non-invasive prenatal screening enters the clinical realm? First, we must find innovative ways to inform women and support their decision making regarding screening. Decision-aid tools are one way of doing just that. Another is to create balanced, unbiased, interactive and engaging informational resources that women can consult online and access through social media.

But while we continue the efforts to ensure appropriate consent for screening, we must also pay more attention to the societal context surrounding prenatal screening. By adopting public policies that ensure pregnant women have viable options, their autonomy can be enhanced at an individual level. If women are concerned about lack of resources and support for families raising children with special needs, they view their options as limited. If they face criticism and stigmatization by society and the medical establishment for continuing a pregnancy with an affected fetus, they may feel pressured to test and even terminate. Women living in jurisdictions with no access to legal or safe termination face limits to autonomous decision making about the management of their pregnancies.

So while our efforts to support counseling and consent at the individual level must persist, there is much we can do collectively to support women’s reproductive autonomy. We must ensure our policies promote tolerant and supportive social contexts, in which women and their families feel free to make decisions based on their own values.


Vardit Ravitsky is an Associate Professor at the Bioethics Program at Université de Montréal and the Director of the Ethics and Health Branch of the Center for Research in Ethics. @VarditRavitsky