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

Overview

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

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.

Conditions

Interventions

Eligibility

Outcomes