Preimplantation Genetic Testing for Aneuploidy Counseling

NCT06018454 | Completed

• 1 other identifier: 202208644
• Study Type: interventional
• Target: 213
• Locations: 1 country
• Sites: 1

Brief Summary

Purpose: To evaluate preimplantation genetic testing counseling interventions on patients undergoing in vitro fertilization treatment. Preimplantation genetic testing for aneuploidy (PGT) allows patients undergoing in vitro fertilization (IVF) to screen embryos for genetic disorders. Preimplantation genetic testing for aneuploidy (PGT-A) is the testing most commonly ordered, and it screens for whole chromosome and large partial chromosome duplications or deletions. Currently, patient counseling varies based on the clinic, ranging from appointments to group seminars with a genetic counselor (GC), geneticist or reproductive endocrinology and infertility (REI) physicians for education regarding PGT. Patient knowledge regarding PGT has been varied with some studies indicating sufficient knowledge, while other studies have shown a potential lack of knowledge. One study indicated a third of patients had regret regarding their decision of whether or not to use PGT-A during IVF and another study indicated patients who choose to undergo PGT did so for reasons that were not evidence based. Additionally, educational materials have been illustrated to be inconsistent and with inappropriate literacy in regards to PGT counseling. One study has shown the potential of improvement with written intervention amongst providers and patients in regards to PGT related to a single genetic condition. The investigators hope to assess the efficacy of PGT-A educational and counseling interventions on patients undergoing IVF.

Conditions

Patient Education

Outcome Measures

Primary Outcomes (3)

• PGT-A Knowledge scores

  Study team designed 7 item knowledge questionnaire. Lowest score being 0 and highest score being 7.

  Prior to new IVF visit

• PGT-A Knowledge scores

  Study team designed 7 item knowledge questionnaire. Lowest score being 0 and highest score being 7.

  Immediately following new IVF visit

• PGT-A Knowledge scores

  Study team designed 7 item knowledge questionnaire. Lowest score being 0 and highest score being 7.

  Two weeks post IVF visit.

Secondary Outcomes (1)

• Decisional conflict as measured by the SURE questionnaire.

  Two weeks post IVF visit.

Study Arms (3)

Provider counseling with pre-test

NO INTERVENTION

Counseling regarding PGT-A only with a provider(current standard of care), pre-test provided.

Handout on PGT-A and provider counseling with pre-test

EXPERIMENTAL

Counseling regarding PGT-A with a provider and review of a handout(educational intervention), pre-test provided.

Other: Handout on PGT-A

Handout on PGT-A, provider counseling and brief genetic counselor counseling with pre-test

EXPERIMENTAL

Counseling regarding PGT-A only with a provider, review of a handout(educational intervention) and genetic counseling (counseling intervention), pre-test provided.

Other: Handout on PGT-A; Other: Handout on PGT-A and genetic counseling

Interventions

Handout on PGT-A OTHER

Educational handout on PGT-A

Handout on PGT-A and provider counseling with pre-test; Handout on PGT-A, provider counseling and brief genetic counselor counseling with pre-test

Handout on PGT-A and genetic counseling OTHER

Handout on PGT-A and genetic counseling session with a genetic counselor on PGT-A

Handout on PGT-A, provider counseling and brief genetic counselor counseling with pre-test

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Patients undergoing in vitro fertilization (IVF)

You may not qualify if:

• Patients who have previously undergone IVF would be excluded.
• Patients who have previously discussed PGT with a genetic counselor would be excluded.
• Patients who do not speak English will be excluded.
• Patients who are employees of the clinic would be excluded.
• Patients who have an indication for PGT-M or PGT-SR would be excluded.

Sponsors & Collaborators

• Eyup Hakan Duran: lead

Study Sites (1)

University of Iowa

Iowa City, Iowa, 52245, United States

Location

Related Publications (8)

• Gebhart MB, Hines RS, Penman A, Holland AC. How do patient perceived determinants influence the decision-making process to accept or decline preimplantation genetic screening? Fertil Steril. 2016 Jan;105(1):188-93. doi: 10.1016/j.fertnstert.2015.09.022. Epub 2015 Oct 24.

  PMID: 26474735 BACKGROUND

• Lee I, Alur-Gupta S, Gallop R, Dokras A. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril. 2020 Oct;114(4):854-860. doi: 10.1016/j.fertnstert.2020.05.045.

  PMID: 33040985 BACKGROUND

• Kaing A, Rosen MP, Quinn MM. Perceptions, motivations and decision regret surrounding preimplantation genetic testing for aneuploidy. Hum Reprod. 2020 Sep 1;35(9):2047-2057. doi: 10.1093/humrep/deaa154.

  PMID: 32756971 BACKGROUND

• Quinn MM, Juarez-Hernandez F, Dunn M, Okamura RJ, Cedars MI, Rosen MP. Decision-making surrounding the use of preimplantation genetic testing for aneuploidy reveals misunderstanding regarding its benefit. J Assist Reprod Genet. 2018 Dec;35(12):2155-2159. doi: 10.1007/s10815-018-1337-8. Epub 2018 Oct 18.

  PMID: 30334131 BACKGROUND

• McGowan ML, Burant CJ, Moran R, Farrell R. Patient education and informed consent for preimplantation genetic diagnosis: health literacy for genetics and assisted reproductive technology. Genet Med. 2009 Sep;11(9):640-5. doi: 10.1097/GIM.0b013e3181ac6b52.

  PMID: 19652605 BACKGROUND

• Early ML, Kumar P, Marcell AV, Lawson C, Christianson M, Pecker LH. Literacy assessment of preimplantation genetic patient education materials exceed national reading levels. J Assist Reprod Genet. 2020 Aug;37(8):1913-1922. doi: 10.1007/s10815-020-01837-z. Epub 2020 May 29.

  PMID: 32472448 BACKGROUND

• Early ML, Strodel RJ, Lake IV, Ruddy JA, Saba JA, Singh SM, Lanzkron S, Mack JW, Meier ER, Christianson MS, Pecker LH. Acceptable, hopeful, and useful: development and mixed-method evaluation of an educational tool about reproductive options for people with sickle cell disease or trait. J Assist Reprod Genet. 2022 Jan;39(1):183-193. doi: 10.1007/s10815-021-02358-z. Epub 2021 Nov 22.

  PMID: 34806131 BACKGROUND

• Singh P, Summers KM, Chanouha N, Thoeny R, Zorn A, Van Voorhis BJ, Sparks AE, Eapen A, Faro EZ, Pawlak SA, Duran EH. A randomized controlled trial of counseling and educational methods on preimplantation genetic testing for aneuploidy for patients pursuing in vitro fertilization. Fertil Steril. 2025 Nov 15;124(5 Pt 2):964-973. doi: 10.1016/j.fertnstert.2025.06.010. Epub 2025 Jun 14.

  PMID: 40523553 DERIVED

MeSH Terms

Interventions

Genetic Counseling

Intervention Hierarchy (Ancestors)

Genetic Services; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Prapti Singh, DO

  University of Iowa

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal investigator

Model Details: Patients randomized with computer generated block randomization of ratio 1:1:1 to randomize women to either 10 minute genetic counseling intervention with handout, handout, or no interventions. Randomization allocation will be performed prior to study initiation through the Institute for Clinical and Translational Science (ICTS) via REDCap software.

Study Record Dates

• First Submitted: August 1, 2023
• First Posted: August 30, 2023
• Study Start: December 20, 2022
• Primary Completion: October 30, 2024
• Study Completion: November 29, 2024
• Last Updated: December 24, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)