Prenatal Genetics Chatbot Trial: Prenatal GENEie

NCT07077707 | Not Yet Recruiting DMC

• 2 other identifiers: 2164485R01HD111426
• Study Type: interventional
• Target: 1,470
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Genetic Counseling

Keywords

prenatal genetics; prenatal testing; mobile application; chatbot; patient education; aneuploidy; decisional conflict; genetics health literacy

Outcome Measures

Primary Outcomes (2)

• Change in Prenatal Knowledge Score

  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

  Proportion of patients who have had cfDNA screening during pregnancy

  Assessed between enrollment and 24 weeks gestation

Secondary Outcomes (3)

• Rate of Any Prenatal Screening or Diagnostic Testing

  Assessed between enrollment and 24 weeks gestation

• Decisional-conflict scale

  Within 7 days after intervention

• Satisfaction Scale for Educational Intervention

  Within 7 days after intervention

Study Arms (2)

In-person genetic counseling

ACTIVE COMPARATOR

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

Prenatal Genetics Chatbot- Prenatal GENEie

EXPERIMENTAL

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

Interventions

Prenatal GENEie Chatbot OTHER

Patient Educational Phone Chatbot Application for Prenatal Genetics in English \& Spanish

Prenatal Genetics Chatbot- Prenatal GENEie

In-person genetic counseling OTHER

Standard in-person genetic counseling for prenatal genetics education

In-person genetic counseling

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Women and Infants Hospital of Rhode Island: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

Women & Infants Hospital of Rhode Island

Providence, Rhode Island, 02905, United States

Location

Related Publications (9)

• Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abuhamad AZ. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obstet Gynecol. 2014 Dec;211(6):651.e1-7. doi: 10.1016/j.ajog.2014.06.038. Epub 2014 Jun 19.

  PMID: 24954652 BACKGROUND

• Carlson LM, Harris S, Hardisty EE, Hocutt G, Vargo D, Campbell E, Davis E, Gilmore K, Vora NL. Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial. Genet Med. 2019 Apr;21(4):923-929. doi: 10.1038/s41436-018-0283-2. Epub 2018 Sep 14.

  PMID: 30214066 BACKGROUND

• Rothwell E, Johnson E, Wong B, Rose NC, Latendresse G, Altizer R, Zagal J, Smid M, Watson A, Botkin JR. The Use of a Game-Based Decision Aid to Educate Pregnant Women about Prenatal Screening: A Randomized Controlled Study. Am J Perinatol. 2019 Feb;36(3):322-328. doi: 10.1055/s-0038-1667371. Epub 2018 Aug 14.

  PMID: 30107621 BACKGROUND

• Kuppermann M, Pena S, Bishop JT, Nakagawa S, Gregorich SE, Sit A, Vargas J, Caughey AB, Sykes S, Pierce L, Norton ME. Effect of enhanced information, values clarification, and removal of financial barriers on use of prenatal genetic testing: a randomized clinical trial. JAMA. 2014 Sep 24;312(12):1210-7. doi: 10.1001/jama.2014.11479.

  PMID: 25247517 BACKGROUND

• Yee LM, Wolf M, Mullen R, Bergeron AR, Cooper Bailey S, Levine R, Grobman WA. A randomized trial of a prenatal genetic testing interactive computerized information aid. Prenat Diagn. 2014 Jun;34(6):552-7. doi: 10.1002/pd.4347. Epub 2014 Mar 18.

  PMID: 24578289 BACKGROUND

• Bryant AS, Norton ME, Nakagawa S, Bishop JT, Pena S, Gregorich SE, Kuppermann M. Variation in Women's Understanding of Prenatal Testing. Obstet Gynecol. 2015 Jun;125(6):1306-1312. doi: 10.1097/AOG.0000000000000843.

  PMID: 26000501 BACKGROUND

• Khoshnood B, Pryde P, Wall S, Singh J, Mittendorf R, Lee KS. Ethnic differences in the impact of advanced maternal age on birth prevalence of Down syndrome. Am J Public Health. 2000 Nov;90(11):1778-81. doi: 10.2105/ajph.90.11.1778.

  PMID: 11076250 BACKGROUND

• Bishop J, Huether CA, Torfs C, Lorey F, Deddens J. Epidemiologic study of Down syndrome in a racially diverse California population, 1989-1991. Am J Epidemiol. 1997 Jan 15;145(2):134-47. doi: 10.1093/oxfordjournals.aje.a009084.

  PMID: 9006310 BACKGROUND

• Dormandy E, Michie S, Hooper R, Marteau TM. Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women's attitudes or a failure to facilitate informed choices? Int J Epidemiol. 2005 Apr;34(2):346-52. doi: 10.1093/ije/dyi021. Epub 2005 Feb 28.

  PMID: 15737971 BACKGROUND

MeSH Terms

Conditions

Aneuploidy

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Method Tuuli, MD

  Women & Infants Hospital in Providence RI

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Melissa L Russo, MD

CONTACT

2022360080; mlrusso@wihri.org

Sayda D Moran Cordon, BA

CONTACT

(401) 274-1122; smorancordon@wihri.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor, Maternal Fetal-Medicine & Genetics

Study Record Dates

• First Submitted: February 28, 2025
• First Posted: July 22, 2025
• Study Start: January 1, 2026
• Primary Completion (Estimated): March 31, 2029
• Study Completion (Estimated): March 31, 2029
• Last Updated: July 28, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: June 2029 in perpetuity
• 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.

Locations

US (1)