LCQ6: Prenatal check-ups provided by public hospitals
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Question:
It is learnt that the regular prenatal check-ups currently provided by public hospitals for local pregnant women with a residential hospital booking mainly include ultrasound examination and basic blood test. However, these procedures cannot accurately and comprehensively detect the various hereditary diseases that foetuses may suffer from, and amniocentesis, which is conducted for some pregnant women, is invasive in nature and is associated with a risk of miscarriage. According to medical research reports, non-invasive fetal trisomy tests (genetic tests), the technology of which has matured in recent years, can detect, in a safe and accurate manner, a number of common hereditary diseases in foetuses. In this connection, will the Government inform this Council:
(1) whether it knows the respective numbers of new-born babies in each of the past five years detected before and after birth to have suffered from hereditary diseases, and set out a breakdown, by whether the detection was made through regular check-ups or genetic tests, of the cases in which babies were detected to have suffered from hereditary diseases before birth;
(2) whether the authorities have conducted studies on the effectiveness and applications of genetic tests; if so, of the details; if not, whether they will conduct such studies; and
(3) whether it knows the expenditure incurred in each of the past five years on providing regular prenatal check-ups by public hospitals; whether the Hospital Authority has plans to carry out free genetic tests for local pregnant women; if so, of the details, including the projected annual number of foetuses that can be detected to have suffered from hereditary diseases and the expenditure involved; if not, the reasons for that?
Reply:
President,
The Government has been attaching great importance to providing appropriate and comprehensive prenatal services for pregnant women. The Maternal and Child Health Centres of the Department of Health (DH) and the obstetrics departments of the Hospital Authority (HA) provide a comprehensive prenatal shared-care programme for pregnant women during the entire pregnancy and delivery process. The first prenatal check-up includes checking of personal and family medical history, physical examination and blood test, etc. If necessary, public hospitals will arrange specific tests including foetal morphology scan (ultrasound scan), blood sugar and oral glucose tolerance tests, amniocentesis, chorionic villus sampling and umbilical cord blood sampling.
My reply to the various parts of the Hon Chan Han-pan's question is as follows:
(1) For detection of individual hereditary diseases, since July 2011, public hospitals have been providing a series of free prenatal services for all local pregnant women with a residential hospital booking, including screening for Down syndrome carried out before 20 weeks of pregnancy. According to the statistics collated by the HA, over 35 000 pregnant women received such service per year on average. A basic blood test will be provided for all pregnant women at public hospitals during their first prenatal check-up, and ultrasound examination will be arranged by doctors if there is a clinical need. In respect of Down syndrome, around 6 per cent (i.e. about 2 000 cases) of the screened pregnancies show positive results each year, and amniocentesis or chorionic villus sampling will be provided to identify Down syndrome in the foetuses. As for other hereditary diseases, public hospitals will offer screening for alpha-thalassaemia and beta-thalassaemia by conducting blood tests on pregnant women. If both parents-to-be have thalassaemia, the expectant mother will receive amniocentesis or chorionic villus sampling in public hospital to detect whether the foetus may suffer from such disease.
With respect to genetic screening, the Clinical Genetic Service (CGS) of the DH has been providing free-of-charge umbilical cord blood screening for all babies born in public hospitals since 1984, targeting two common conditions, namely congenital hypothyroidism and glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is a genetic disease. G6PD deficiency was found in about 4.5 per cent of male and 0.5 per cent of female newborns in Hong Kong. Between 2012 and 2016, the total number of G6PD deficient cases confirmed through this screening programme was about 4 900.
Other than the cases detected by screening, some genetic diseases can only be diagnosed and confirmed after patients manifest signs and symptoms. As different genetic diseases are associated with different signs and symptoms and with different age of onset, not necessarily evident in the newborn period, the CGS of the DH does not maintain statistics on the incidence rates of genetic diseases among the neonatal population per year.
Besides, there exist a wide range of genetic diseases with complex coding and definitions. The HA has not established a comprehensive database to maintain statistics on the number of new-born babies detected to have genetic diseases before and after birth through regular check-ups or genetic tests.
(2) and (3)
The DH and the HA launched an 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" (the Pilot Study) in Queen Elizabeth Hospital and Queen Mary Hospital in October 2015. Over 15 100 newborns participated in the Pilot Study, with nine being diagnosed with inborn errors of metabolism (IEM). As the Pilot Study has proven effective, the Government has, starting from April 1, 2017, regularised the IEM screening service for newborns in the two hospitals, and is extending the screening service to all public hospitals with maternity wards in phases from the second half of 2017-18. The current screening programme covers a total of 24 IEMs. The working group set up jointly by the DH and the HA will regularly review the effectiveness and scope of the programme.
The "T21 test", a kind of non-invasive prenatal test, is a testing technique in the form of a blood test to analyse foetal chromosome 21 by examining the foetal DNA present in a pregnant woman's plasma. The HA has earlier discussed the development and effectiveness of "T21 test" at the relevant co-ordinating committees. The HA is now exploring the facilities required for the introduction of "T21 test" in Hong Kong Children's Hospital (HKCH) as a second-tier prenatal screening test for Down syndrome and making preparations for professional training and service arrangements. Under the current plan, the service of "T21 test" will be launched at the HKCH in the first quarter of 2019. The HA currently does not provide non-invasive foetal trisomy tests, and the expenditure incurred by such tests may vary depending on factors including the scope of services, manpower required, and costs of testing equipment and consumables. As all these factors are uncertain, the HA is unable to provide the estimated expenditure for the provision of the testing service.
The HA will provide other appropriate prenatal services according to the clinical needs of pregnant women. It does not maintain data on annual expenditure for offering traditional prenatal check-up services.
Ends/Wednesday, February 7, 2018
Issued at HKT 18:16
Issued at HKT 18:16
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