Hongkongers who have suffered recurrent miscarriages or fetal maldevelopment in their children will be among about 1,000 couples eligible for free screening and counselling in a new scheme set up by Chinese University and the Family Planning Association.
The programme, which opens for application from next Friday, aims to help more local couples who carry genetic diseases be aware of their underlying conditions that may cause disabilities in their children.
“We hope this programme will … bridge the service gap, especially for those underprivileged groups who cannot afford the services even if they are at high risk,” said Professor Leung Tak-yeung from the university’s department of obstetrics and gynaecology, which co-organises the scheme.
The Family Planning Association will help process applications and carry out initial assessments in its clinics across the city.
The programme will run for three years and help about 1,000 couples a year.
Eligible couples must be Hong Kong ID card holders above the age of 18, who are planning a pregnancy and fulfil one of six criteria. They include experience of at least two miscarriages or repeated fetal malformations or disabilities; previous unexplained fetal or neonatal conditions; and marriage involving first or second-degree relatives.
The other three criteria are a family history of intellectual disabilities, miscarriage or malformation; having high-risk factors for genetic disorders; and belonging to an ethnic group known to be susceptible to monogenic diseases.
Couples can be referred by healthcare professionals to join the free screening or file applications on the association’s website.
Leung said global data indicated that out of every 1,000 couples, two to three would be asymptomatic carriers of genetic diseases that could lead to adverse pregnancy outcomes, such as stillbirths and thalassaemia or spinal muscular atrophy in the newborns.
Ordinary screening can only be done during pregnancy or after a baby is born, and can only detect some genetic conditions, such as Down’s syndrome and metabolic disorders.
But Chinese University has developed a technology that can detect about 300 mutations in a person’s DNA through an all-in-one blood test. Low-risk couples can also register for the test for about HK$4,000 (US$509).
The university’s clinical history showed the test, together with in vitro fertilisation technology, could help couples with repeated miscarriages conceive children who are asymptomatic despite still being carriers of genetic conditions.
Leung also said the scheme aimed to offer new information on the status of local carriers and provide healthcare professionals with training to cope with the increasing demand for preconception genetic counselling services.