Evaluation of the Implementation of Expanded Carrier Screening Before Pregnancy in Hong Kong

NCT02742116 | Completed

• 1 other identifier: ECSFPA1.0
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief Summary

The objectives are to:

1. 1.Assess patient's views and preferences in receiving expanded carrier screening
2. 2.Perform qualitative study on post testing counselling on screen positive individuals and at risk couples

Conditions

Genetic Testing

Keywords

Expanded carrier screening

Outcome Measures

Primary Outcomes (1)

• Patient acceptance and literacy of expanded carrier screening

  Factors affecting the choice of expanded carrier screening in the prepregnancy and subfertility patients Identify counselling issues when expanded carrier screening is offered in the local setting

  6 weeks

Secondary Outcomes (1)

• Patient acceptance and literacy of expanded carrier screening

  6 months

Interventions

DNA screening before Pregnancy GENETIC

Saliva/swab shall be collected from couple for Hereditary Disease DNA screening test. Blood sample shall be taken by venipuncture of women for Fragile X carrier screening A pre-test questionnaire will be conducted to assess subject's knowledge, views and preferences in receiving expanded carrier screening, choice of having concurrent or sequential screening, factors affecting their choices, anxiety level, and their willingness to pay for the test. A post-test self-administered questionnaire shall be filled in by the patient on receiving the test results. Couples who receive a screen positive result shall be subsequently referred to Queen Mary Hospital for joint counselling by clinical geneticist and gynaecologist. This consultation shall be audiotaped or videotaped.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Both female and male Chinese participants are being studied

You may qualify if:

• Ethnic Chinese couples who attend prepregnancy clinic
• Age 18 or above

You may not qualify if:

• Couples who cannot read or understand Chinese or English

Sponsors & Collaborators

• The University of Hong Kong: lead
• The Family Planning Association of Hong Kong: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

Saliva/swab shall be collected from patient/couple for Hereditary Disease DNA screening test by DrGene. Blood sample shall be taken by venipuncture of women for Fragile X carrier screening by Prenatal Diagnostic Laboratory, Tsan Yuk Hospital

Study Officials

• Grace CY Wong, MD

  The Family Planning Association of Hong Kong

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2016
• First Posted: April 18, 2016
• Study Start: July 1, 2016
• Primary Completion: October 1, 2016
• Study Completion: October 1, 2016
• Last Updated: November 3, 2016

Record last verified: 2016-11

Data Sharing

• IPD Sharing: Will not share