Prenatal Genetics Chatbot Trial: Prenatal GENEie

July 22, 2025 updated by: Melissa Russo, Women and Infants Hospital of Rhode Island

A Randomized Trial of Chatbot for Prenatal Genetic Counseling

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

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Interventional

Enrollment (Estimated)

1470

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Rhode Island
      • Providence, Rhode Island, United States, 02905
        • Women & Infants Hospital of Rhode Island

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

No

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Active Comparator: In-person genetic counseling
Patients in this group will be scheduled for an in-person genetic counseling visit to discuss options for aneuploidy screening, carrier screening, and prenatal diagnosis. For Spanish-speaking patients the genetic counselors will use in-person interpreters.
Other: In-person genetic counseling
Standard in-person genetic counseling for prenatal genetics education
Experimental: Prenatal Genetics Chatbot- Prenatal GENEie
Patients in the intervention group will be assisted by research staff to download and interact with the chatbot Prenatal GENEie in their preferred language (English or Spanish) for a minimum of 30 minutes to learn about aneuploidy screening, carrier screening and prenatal diagnosis.
Other: Prenatal GENEie Chatbot
Patient Educational Phone Chatbot Application for Prenatal Genetics in English & Spanish

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in Prenatal Knowledge Score
Time Frame: Baseline knowledge at enrollment and within 7 days after intervention
The prenatal knowledge score is calculated from questionnaire with 30 true/false questions. The scores range from 0 (lowest knowledge) to 30 (highest knowledge), reflecting the number of correct responses.. The change in prenatal knowledge score is then calculated from the percent answered correctly after the intervention from number of correct responses before the intervention. The highest knowledge increase is 30 and the lowest is 0.
Baseline knowledge at enrollment and within 7 days after intervention
Rate of Prenatal Screening
Time Frame: Assessed between enrollment and 24 weeks gestation
Proportion of patients who have had cfDNA screening during pregnancy
Assessed between enrollment and 24 weeks gestation

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Rate of Any Prenatal Screening or Diagnostic Testing
Time Frame: Assessed between enrollment and 24 weeks gestation
Proportion of patients who have any kind of genetic testing: cfDNA, serum screening, carrier screening, diagnostic testing
Assessed between enrollment and 24 weeks gestation
Decisional-conflict scale
Time Frame: Within 7 days after intervention
The Decisional-conflict scale consists of 10 items, each with 3 response categories (yes, no, unsure). Items are given a score value of (0=yes, 2=unsure, 4=no). Total score is calculated by summing items, dividing by 10 and multiplying by 25. Score ranges from 0 (no conflict) to 100 (highest decisional conflict) with higher scores indicating higher level of decisional conflict.
Within 7 days after intervention
Satisfaction Scale for Educational Intervention
Time Frame: Within 7 days after intervention
Likert Scale for Satisfaction with genetic counseling or chatbot (secondary outcomes to be described in secondary manuscripts). The Likert scale is 1 to 5 with 1= not at all satisfied with the educational intervention to 5=highly satisfied with educational intervention
Within 7 days after intervention

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Women and Infants Hospital of Rhode Island

Collaborators

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Investigators

  • Principal Investigator: Method Tuuli, MD, Women & Infants Hospital in Providence RI

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

January 1, 2026

Primary Completion (Estimated)

March 31, 2029

Study Completion (Estimated)

March 31, 2029

Study Registration Dates

First Submitted

February 28, 2025

First Submitted That Met QC Criteria

July 11, 2025

First Posted (Actual)

July 22, 2025

Study Record Updates

Last Update Posted (Actual)

July 28, 2025

Last Update Submitted That Met QC Criteria

July 22, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 2164485
  • R01HD111426 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

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.

IPD Sharing Time Frame

June 2029 in perpetuity

IPD Sharing Access Criteria

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.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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