Ensuring Patients' Informed Access to Noninvasive Prenatal Testing

NCT03420274 | Completed DMC

• 2 other identifiers: 17-987R01HG010092
• Study Type: interventional
• Target: 691
• Locations: 1 country
• Sites: 2

Brief Summary

Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy. The advantage of this screen is that is provides information about the risk of trisomy 13, trisomy 18, and trisomy 21 with greater accuracy than conventional screens. At the same time, NIPT can produce information about the risk of a cohort of other fetal genetic variants, including sex chromosome aneuploidies and microdeletion syndromes. While not yet clinically available for whole exome sequencing, the potential for this next clinical application already exists. The challenge is that, while this is an important new test, there are little data about how to best structure patient-centered decisions about NIPTs use, including decisions if to use this screen and how the information may directly inform subsequent prenatal care decisions. The purpose of this study is to gain formative data about current practice patterns with respect to how NIPT is discussed in the clinical visit and to use these data to help inform best practices for NIPTs continued use in the clinical setting.

Conditions

Genetic Disease; Genetic Syndrome; Prenatal Disorder; Pregnancy Complications; Prenatal Maternal Abnormality

Keywords

Shared decision-making; Prenatal genetic testing; Noninvasive prenatal testing (NIPT); Cell free fetal DNA (cfDNA); Informed consent

Outcome Measures

Primary Outcomes (1)

• Shared decision-making (SDM)

  This will be measured using the OPTIONS scale, a validated scale developed to measure different components of a shared decision-making process in a clinical encounter as part of a direct observation approach.

  40 weeks estimated gestational age

Secondary Outcomes (2)

• Informed choice

  40 weeks estimated gestational age

• Decisional regret:

  40 weeks estimated gestational age

Study Arms (2)

NEST (Invtervention)

EXPERIMENTAL

This is a point-of-care shared decision-making instrument.

Behavioral: NEST

Control (Standard of Care)

PLACEBO COMPARATOR

This group will utilize usual care with respect to healthcare provider practice for education and counseling.

Behavioral: Usual care

Interventions

NEST BEHAVIORAL

This is a point-of-care shared decision-making instrument.

NEST (Invtervention)

Usual care BEHAVIORAL

This group will utilize usual care with respect to healthcare provider practice for education and counseling.

Control (Standard of Care)

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: The investigators will recruit 1) pregnant women, 2) self-identified partners of pregnant women (not limited to male partner), and 3) prenatal healthcare providers.
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• years of age or older
• Present for their initial prenatal visit care with one of the providers enrolled in the study
• Able to provide consent to participate in the study
• Available for a follow up in the 1st or 2nd trimester of pregnancy
• Have a viable intrauterine pregnancy
• Present for care between 7-12 weeks estimated gestation age (EGA)
• Since criteria 5 and 6 will not be determined until the conclusion of the first prenatal visit, women who meet criteria 1-4 will be eligible for participation.

You may not qualify if:

• Women who are:
• Less than 18 years of age
• Not currently pregnant or an intrauterine pregnancy has not yet been established
• Inability to provide informed consent for research participation
• II. Self-identified partners of pregnant women
• years of age or older
• The male or female partner (such as partner or mother/aunt/grandmother serving in the role of primary collaborative decision-maker in place of a partner) of a pregnant woman who has participated in the research
• Participating in decision-making about the pregnancy
• Ability to read and speak English
• Ability to provide informed consent for research participation
• Younger than 18 years of age
• Not currently involved in the pregnancy or decision-making about prenatal care
• Inability to speak or read English
• Inability to provide informed consent for research participation
• III. Prenatal healthcare providers

Sponsors & Collaborators

• The Cleveland Clinic: lead
• Indiana University: collaborator
• National Human Genome Research Institute (NHGRI): collaborator

Study Sites (2)

MetroHealth Medical Center

Cleveland, Ohio, 44109, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn; Pregnancy Complications

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases

Study Officials

• Ruth M Farrell, M.D., M.A.

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: This will be a cluster randomized trial examining a shared decision-making intervention.

Study Record Dates

• First Submitted: January 29, 2018
• First Posted: February 5, 2018
• Study Start: February 19, 2018
• Primary Completion: April 30, 2022
• Study Completion: June 15, 2023
• Last Updated: March 2, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)