Camille is a 32 year-old woman at 10 weeks gestation in her first pregnancy. At her first prenatal appointment, Camille elects cell-free DNA screening for aneuploidy. She is not concerned about her risk for aneuploidy but is excited to find out the baby’s sex early in the pregnancy. She heard from her friend that she can find out through the “gender test.” Camille begins to talk with her family about hosting a gender reveal party in a few weeks’ time. Camille calls her OB and asks for her test result to be disclosed directly to her sister, who will bake a pink or blue cake to “announce” the baby’s sex at the gender reveal.
Meanwhile, Camille’s blood sample is being analyzed to assess risk for Down syndrome (trisomy 21) and several other conditions including the sex chromosomes, many of which are associated with intellectual disability and birth defects.
How should Camille’s provider handle this request to share her genetic test result with another individual? Has Camille been prepared for a potential positive result on her aneuploidy screening test?
We spoke with Dr. Siobhan Dolan, a board-certified obstetrician and medical geneticist and Vice Chair of the Department of Obstetrics & Gynecology and Women’s Health Research at Albert Einstein College of Medicine, to learn more about patient motivations and experiences with cell-free DNA screening.
Cell-free DNA is a popular screening tool for common chromosome conditions
The American College of Obstetricians and Gynecologists (ACOG) recommends that both aneuploidy screening and diagnostic testing options be offered to all pregnant women. One such test, cell-free DNA (cfDNA), also called non-invasive prenatal screening or non-invasive prenatal testing (NIPT), screens for risk of conditions like trisomy 21, trisomy 18, trisomy 13 and sex chromosome conditions as early as 10 weeks. For someone who wants early information for decision-making and emotional preparation, this test can be very useful. If the screening test has a high risk result, then a woman would pursue either a chorionic villus sampling or amniocentesis to confirm or rule out a diagnosis.
The rise of the “gender test”
While cfDNA screening is designed to provide risk assessment for serious genetic conditions, many women are motivated to undergo testing for a simpler and possibly more compelling reason – to learn fetal sex. In fact, cfDNA screening is commonly referred to as “the gender test” by many consumers and some media sources. “We see this every day,” says Dr. Dolan. “Patients are really motivated by wanting to know whether they are having a boy or girl.”
Some women request cfDNA screening because they want to find out fetal sex as early as possible in order to plan for what has quickly become a cultural tradition: a “gender reveal” party. At these events, family and friends gather to learn the sex of the baby. Often the sex is revealed by a pink or blue surprise, such as the parents-to-be cutting into a pink or blue cake or popping balloons to release pink or blue confetti. Women can share the gender reveal on social media, announcing the baby’s sex and celebrating with a much larger community of friends and followers.
Supporting informed decision-making about prenatal testing
Learning the sex of the baby is indeed a celebratory milestone for many women and couples, and cfDNA screening makes this information much more accessible. However, cfDNA screening is a medical test that first and foremost provides a screen for genetic conditions and like all tests, has risks and limitations. Even for a woman who has elected cfDNA screening after thoughtfully considered the pros and cons, receiving a call that she has a high risk result for a chromosome condition like Down syndrome can be extremely difficult emotionally. For a woman who is motivated to have cfDNA screening to find out fetal sex above all else, navigating a high risk result can be even more challenging. “The concern there is that a lot of patients in that scenario haven't really considered the possibility that the fetus has a genetic condition,” explains Dr. Dolan. “When you're taking a test because you are using the information to plan a fun party and haven't thought about the possibility that you may learn about a serious genetic condition, the results can really just blindside you.” These patients are set up for a difficult situation if their results reveal a high risk result for a genetic condition. “The good news,” Dr. Dolan says, is that “ultimately, most tests are negative or low risk.” While a high risk result is rare, it is important for patients to be aware of this possibility.
So how should a provider work with a patient who is requesting cfDNA screening in order to learn fetal sex? Dr. Dolan discussed the importance of pre-test counseling to make sure patients have thought about what kinds of conditions the test screens for and the possible results. “We want to be sure that patients are interested in achieving the primary purpose of the test, which is to screen for genetic conditions.” Learning fetal sex can be framed as a side benefit.
Dr. Dolan stresses that women have a right to choose any diagnostic or screening test for whatever reasons are important to them. “The guiding principle is autonomy. We really do respect women’s right to choose for themselves about what testing they want.” Providers can support patients’ informed decision making by respectfully assuring they understand the benefits as well as risks and limitations of the options available to them, even when the patient comes in the door advocating for a particular testing path. “Ultimately it's about matching the patient’s expectations with what the test is going to deliver,” says Dr. Dolan.
When the party is planned and mom wants to be surprised
In addition to ensuring patients receive pre- and post-test counseling to aid in results disclosure, obstetrics practices offering cfDNA screening may be challenged in releasing results for another reason: the patient does not want to receive results herself. Dr. Dolan says her practice fields these requests every day: they are asked to tell the patient’s sister, sister-in-law, husband, or another friend or family member – or even the bakery! Dr. Dolan says they also receive calls from individuals other than the patient seeking cfDNA results, which is also outside of standard practice in the clinical model of care.
The impending date of a gender reveal party can also create added stress for the woman when cfDNA results are not yet back from the lab. Sometimes results take longer than expected and sometimes tests fail, which itself is an indication for offering diagnostic testing. These situations can be especially frustrating for women seeking fetal sex on a timeline. “This mismatch of expectations can lead to a lot of upset and disappointment,” says Dr. Dolan.
Patients also may be frustrated when results are not available through the hospital’s patient portal. cfDNA testing is typically performed as a “send out” test and results are scanned into the medical record and may not be compatible with automated release through the patient portal. Patients are logging into their portals looking for cfDNA results, says Dr. Dolan, and are confused and disappointed when it is not available. All in all, these patients are not getting the information they want in the way the way to receive it.
Dr. Dolan is hopeful that more patient-centered models for prenatal genetic testing are on the horizon. One major cfDNA testing laboratory recently launched their own patient portal, in which the patient receives a card with identifiers at the time of blood draw that allows her to go online and check her own results. In this model, patients have the autonomy to access results when they want, and to share results with whom they want, and the medical team still follows up on clinically significant results. Dr. Dolan also notes that consumer demand may support development of a gender-only test, recognizing that such a test would likely not be covered by insurance and out-of-pocket costs would be a factor in patient uptake.
Matching patient and provider expectations
Pre-test counseling can go a long way to ensuring patients are making informed decisions about prenatal testing and are prepared for potential results. Dr. Dolan encourages patients to keep an open mind even if they already decided they want the test. They may not have considered what they do or do not want to know. Providers should listen to their patients and help them explore the outcomes of different decisions, to make sure they are making the best decision for their own values. Dr. Dolan also advises that providers should discuss the nuances of prenatal screening and diagnostic testing with patients, because they each have unique benefits, risks and limitations that each person will weigh differently. “It’s sort of an awareness that it’s not so simple. It is complicated and asks one to really do some thinking about what they want. I think all providers could help patients with that.”
Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening. Learn about the benefits and limitations of cell-free DNA screening in prenatal care.