Clinical trial NCT02742116: Evaluation of the Implementation of Expanded Carrier Screening Before Pregnancy in Hong Kong
Official title: Evaluation of the Implementation of Expanded Carrier Screening Before Pregnancy in Hong Kong
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Genetic Testing
Keywords: Expanded carrier screening
Lead sponsor: The University of Hong Kong
Sponsor class: OTHER
Collaborators: name: The Family Planning Association of Hong Kong
First posted: 2016-04-18
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Both female and male Chinese participants are being studied

Brief summary: The objectives are to:

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

Detailed description: This study is to recruit 50 couples for Expanded carrier screening at Prepregnancy Checkup Clinic at the Family Planning Association.

Saliva swabs are collected from couples for Hereditary Disease DNA screening test by DrGene.

Blood samples are taken by venipuncture of women for Fragile X carrier screening by Prenatal Diagnostic Laboratory, Tsan Yuk Hospital.

A pre-test self-administered Questionnaire 1 will be administered to couples to assess their knowledge, views and preferences in receiving expanded carrier screening. This include collection of basic demographic information, answers to questions on basic principles of expanded carrier testing, reasons of having or declining the test, choice of having concurrent or sequential screening, factors affecting their choices, anxiety level of the patient is assessed by state-trait anxiety inventory. Their willingness to pay for the test is also assessed.

The test results will be available to couples in 6 week's time. A post-test self-administered questionnaire 2 will be administered to couples on receiving the test results at the clinic. These include assessment of anxiety level, any decision regret, outcome of test and resulting action.

The couples with a screen positive result will be referred to Queen Mary Hospital for a joint counselling by clinical geneticist and gynaecologist. This counselling/consultation shall be audiotaped or videotaped. The interviews will be transcribed verbatim. The data will be explored for themes and issues identified.

Statistics Questionnaire survey data shall be entered into SPSS. Descriptive statistics will be used to compare responses and choices of participants.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* Couples who cannot read or understand Chinese or English

Primary outcomes:
measure: Patient acceptance and literacy of expanded carrier screening
timeFrame: 6 weeks
Secondary outcomes:
measure: Patient acceptance and literacy of expanded carrier screening
timeFrame: 6 months
Other outcomes:
Locations:
Study officials:
affiliation: The Family Planning Association of Hong Kong
name: Grace CY Wong, MD
role: PRINCIPAL_INVESTIGATOR
References: