Supporting women's autonomy in prenatal testing

August 10, 2017

Noninvasive fetal genetic sequencing done early in pregnancy is poised to become a routine part of prenatal care. While it could offer patients substantial benefits, there is a risk that it will be integrated into care "without the robust, evidence-based informed consent process necessary for respecting women's autonomy," states an article in the August 10 issue of the New England Journal of Medicine.

"If that happens, patients will be asked to decide whether to undergo invasive diagnostic testing and then to consider whether to terminate or continue their pregnancy without a full understanding of the results."

The lead author is Josephine Johnston, LLBB, MBHL, director of research at The Hastings Center; co-authors are Ruth M. Farrell, MD, an obstetrician-gynecologist at the Cleveland Clinic, and Erik Parens, PhD, senior research scholar at The Hastings Center. Johnston is the principal investigator and Parens is an investigator on a project on goals and practices for next-generation prenatal testing, supported by a grant from the National Human Genome Research Institute of the National Institutes of Health.

The authors anticipate the advent of noninvasive diagnostic tests that can sequence the entire genome of a fetus from whole fetal cells circulating in the mother's blood. They would yield vastly more information than the screening tests now in use—themselves fairly new—which analyze fragments of fetal DNA in the mother's blood.

The article calls for a broad range of changes in policy and practice to enable clinicians to give women the information they need to provide fully informed consent in prenatal testing.

While the meaning of prenatal genetic tests results has always been complex and often difficult to interpret, the complexity "grows exponentially when we move from tests that can generate a handful of results to information about hundreds or thousands of genes," the authors write. Many of these results will reveal genetic variations whose significance is unclear or unknown, leaving women unsure what to do with information they may wish they did not have.

The authors cite barriers to women giving fully informed consent to prenatal genetic testing. "Since the 1980s, prenatal screening tests for a small number of traits including Down's syndrome have become routinized in ways that can undermine informed consent," they write. "Specifically, studies show that women have undergone prenatal genetic screening and diagnostic tests with only a limited understanding of the indications and ramifications of the information that the tests return." Patients and providers have also engaged in the "collective fiction" that screening can improve a fetus's health and a "collective silence" that a positive result could lead a woman to decide to have an abortion.

"The need for fully informed consent in prenatal screening and testing has never been more urgent," the authors conclude. "Meeting this need will require adoption of reimbursement policies and professional practice guidelines that support clinicians in breaking with current routine practices, which too often involve dispensing with or failing to adequately carry out an ."

Other recommendations include: funding to develop education and counseling approaches to help patients decide whether to be tested and what to do with the results; social welfare and other policies that support people with disabilities and their families "so that women's choices are less likely to be constrained by financial concerns or fear for the future welfare of a disabled child;" and access to abortion services. Johnston discusses their recommendations in the New England Journal of Medicine's podcast .

Explore further: Obstetric providers need greater support for new prenatal screening test

More information: Josephine Johnston et al. Supporting Women's Autonomy in Prenatal Testing, New England Journal of Medicine (2017). DOI: 10.1056/NEJMp1703425

Related Stories

Obstetric providers need greater support for new prenatal screening test

August 4, 2017
A new study shows most New Zealand obstetric providers need more support when providing a revolutionary genetic prenatal screening test because of its complexity and because it is not publicly funded.

ACOG issues recommendations on prenatal screening

March 4, 2016
(HealthDay)—Recommendations on screening for genetic disorders and fetal aneuploidy have been updated, according to two Practice Bulletins published online March 3 in Obstetrics & Gynecology.

Effect of intervention, removal of costs, on prenatal genetic testing

September 23, 2014
An intervention for pregnant women that included a computerized, interactive decision-support guide regarding prenatal genetic testing, and no cost for testing, resulted in less prenatal test use and more informed choices, ...

ACOG: Opioid agonist Rx first choice in affected pregnancies

July 28, 2017
(HealthDay)—While opioid agonist pharmacotherapy continues to be the recommended therapy for pregnant women with an opioid use disorder, medically supervised withdrawal can be considered under the care of a physician experienced ...

Abnormalities in pregnancies with failures for noninvasive prenatal testing

February 2, 2015
In a study to be presented on Feb. 6 in an oral concurrent session at 1:15 p.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report on the high rate ...

Recommended for you

Mice delivered by C-section gain more weight than those delivered naturally

October 11, 2017
Mice born by Caesarian section gained on average 33 percent more weight in the 15 weeks after weaning than mice born vaginally, with females gaining 70 percent more weight.

Study shows epidurals don't slow labor

October 10, 2017
Epidural analgesia - a mix of anesthetics and narcotics delivered by catheter placed close to the nerves of the spine - is the most effective method of labor pain relief. In widespread use since the 1970s, epidurals have ...

Progesterone does not prevent preterm birth or complications, says study

October 3, 2017
An increasingly popular hormonal "treatment" for pregnant women with a history of preterm birth does not work, a major new international study shows.

Study questions practice of placenta eating by new moms

September 29, 2017
(HealthDay)—You may have heard that some new mothers choose to eat their own placenta after childbirth. But there's no indication the trendy practice offers any health benefits, and some evidence it could prove dangerous, ...

Hope for couples suffering IVF miscarriage

September 20, 2017
Women who miscarry during their first full round of IVF are more likely to have a baby after further treatment than women who don't get pregnant at all.

Does mother's mental health affect pregnancy?

September 13, 2017
(HealthDay)—Three common mental health disorders—depression, panic disorder and generalized anxiety disorder—pose no serious threat to pregnant women or the health of their babies, a new study finds.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.