During pregnancy, all pregnant people are offered tests to look for genetic conditions in the baby. However, there isn't a standard way of giving this information to patients. Doctors have a lot of things to discuss during the first prenatal visit and don't always have time to explain genetics in detail. Also, not everyone has access to genetic counselors. Prenatal genetics can be confusing, especially for people who haven't had a lot of formal education or who speak languages other than English. There might be misunderstandings about what these tests can find and what their benefits or risks are for these tests.

Mobile apps, like chatbots, could be a helpful way to give information about prenatal genetics. Almost everyone has a cell phone, and a chatbot can let people learn at their own speed and whenever they want.

The goal of this study is to see if a chatbot app Prenatal GENEie can teach pregnant women about prenatal genetics, and compare the chatbot to talking with a genetic counselor in person. The study wants to answer these main questions:

• Does the Prenatal GENEie help pregnant patients learn about prenatal genetics the same way as a meeting with a genetic counselor?
• Can the Prenatal GENEie and in-person counseling both help people make decisions about whether they want prenatal genetic testing?

The researchers will compare the chatbot Prenatal GENEie with in-person counseling to see if the chatbot teaches people about prenatal genetics in a similar way.

Participants will:

• Take a test to check what they already know about prenatal genetics prior to the intervention
• Use the chatbot or have an in-person meeting with a genetic counselor
• Take a test after using the chatbot or meeting with a counselor to see how much their knowledge has improved
• Fill out a survey about how comfortable they feel with their decision to do or not do prenatal genetic testing

Current recommendations from the American College of Obstetricians and Gynecologists (ACOG) call for all pregnant people to be offered screening and diagnostic testing options for aneuploidy, including maternal serum screening, cell-free fetal DNA (cfDNA), chorionic villus sampling, amniocentesis, and carrier screening for cystic fibrosis and spinal muscular atrophy. As a result, the nearly 4 million pregnant people receiving prenatal care in the United States annually require access to associated, and complex, prenatal genetic counseling. Additionally, access to pregnancy terminations has radically changed in the post-Dobbs era. With these considerations and a commitment to person centered-care, informed decision-making is critical, and predicated on people having adequate knowledge of the benefits and risks of different testing options. In the context of prenatal genetics, no option is the correct choice for all persons. Instead, the ideal choice is based on an individual's beliefs and values. Obstetric care providers have the challenge of addressing an ever-increasing number of topics during the first prenatal care visit, and prenatal genetic counselors face a high number of referrals. Yet there is a national shortage of genetic counselors with an uneven geographic distribution. The resulting lack of access to standardized prenatal genetic counseling can lead to patient misinterpretation of the goals or results of prenatal genetic testing and may be contributing to socioeconomic and racial disparities in prenatal genetic screening and diagnosis. Minority patients have a lower uptake of prenatal genetic screening and higher live-birth rates of children with Down syndrome likely due to lower rates of informed choice rather than negative attitudes about testing. Language barriers further exacerbate misunderstanding of prenatal genetic testing options.

Mobile digital tools, including chatbots, provide an attractive alternative to in-person genetic counseling due to the near ubiquitous availability of mobile devices among patients and ability to ensure tailoring and standardization. Previous digital tools developed for prenatal genetic education showed promise, but most are more instructional than interactive, computer-based rather than mobile-based, and do not include information on carrier screening currently recommended by ACOG. Notably, most tools were developed before the clinical availability of cfDNA testing, now the most common prenatal screening modality in the U.S. To address this critical need, a multidisciplinary team of perinatologists, genetic counselors, and digital health experts developed an innovative, patient-informed, mobile chatbot (iPrenatal) to simulate a text and audio-based counseling discussion about aneuploidy screening and diagnosis . Preliminary data from the researchers' randomized trial of 258 English-speaking pregnant people showed significantly higher post-intervention knowledge scores among patients who used iPrenatal compared with those who received routine provider education (66% vs 55%, p < 0.001). The researchers propose to leverage this success by engaging users in formative work to create Prenatal GENEie, with information on aneuploidy and carrier testing, and provide all content in English and Spanish. The researchers will evaluate Prenatal GENEie in a randomized controlled trial of 1470 pregnant people in clinics serving racially and socioeconomically diverse pregnant women. The researchers will test their central hypothesis that an enhanced digital education chatbot providing standardized yet tailored prenatal genetic counseling will be comparable to in-person prenatal counseling by a genetic counselor in increasing patient knowledge and uptake of prenatal genetic tests.

The specific aims of this study are:

Aim 1: Determine the effect of Prenatal GENEie on patient knowledge and uptake of prenatal genetic testing, compared to in-person genetic counseling. The researchers hypothesize that Prenatal GENEie will result in non-inferior knowledge gain and testing uptake, compared to genetic counseling.

Aim 2: Assess ability of Prenatal GENEie to narrow the gap in knowledge and uptake of prenatal genetic screening between English- and Spanish-speaking patients, compared to in-person genetic counseling. The researchers hypothesize that Prenatal GENEie will narrow the gap in knowledge scores and uptake of prenatal genetic testing between English- and Spanish-speaking patients.

The expected outcome of this study is high-quality evidence on the ability of an educational chatbot to equitably increase patient knowledge and uptake of prenatal genetic screening and diagnostic tests. If shown to be effective, this validated chatbot interface will be adaptable and scalable to other settings, including areas of provider shortages, and languages to increase equitable access to prenatal genetic counseling.

Inclusion Criteria:

• English or Spanish speaking with ability to read and write
• Gestational age <20 weeks
• Access to smartphone or tablet (through personal use or study)

Exclusion Criteria:

• Patients who have already had genetic counseling related to current pregnancy
• h/o trisomy, major fetal anomaly. or aneuploidy in previous pregnancy
• Parent with Robertsonian translocation
• Twins, vanishing twin, multi-gestation pregnancy
• Fetal anomaly noted in early pregnancy
• In- vitro fertilization with pre-implantation genetic testing (PGT-A or PGT-M)

Study protocols, and metadata including participant age, sex, race and ethnicity, height, weight, socioeconomic status, and other demographic data; past and present medical, surgical and obstetric history; intervention, chatbot genetic counseling or in person genetic counseling; and pregnancy and study outcomes data.

June 2029 in perpetuity

Data will be findable for the research community. All publications will be made available via the NIH publication policy. Each of the datasets will have an assigned digital object identifier (DOI). This data DOI will be referenced in the publication to allow the research community easy access to the exact data used in the publication.