Health workers are caring for babies in the Neonatal Department. — VNA/VNS Photo

HÀ NỘI — The Ministry of Health (MoH) has proposed a list of 90 congenital diseases requiring screening, diagnosis and treatment, aiming to improve the effectiveness of newborn health care and prevent birth defects as it seeks public feedback on the draft circular.

Congenital diseases are a major cause of death in children and can lead to lifelong disability, affecting quality of life and the gene pool.

The ministry is collecting public opinions on the draft circular issuing the list.

According to the ministry, the programme on prenatal and newborn screening was deployed on a trial basis from 2007 to 2013 in 34 provinces and cities nationwide.

In August 2021, the ministry issued Decision No. 3845/QĐ-BYT on the promulgation of a list of certain congenital diseases and disorders to be screened, diagnosed and treated prenatally and neonatally under the basic service package.

The package includes prenatal screening for four diseases: Down syndrome, Edward syndrome, Patau syndrome, and thalassemia; and neonatal screening for five diseases: congenital hypothyroidism, G6PD deficiency, congenital adrenal hyperplasia, congenital hearing loss and congenital heart disease.

However, with advances in technology, medical equipment has become increasingly modern, enabling more widespread and accurate detection of congenital diseases.

If the number of diseases requiring screening remains limited, the golden opportunity for early intervention may be missed, making it harder to minimise birth defects, increasing socio-medical burdens and failing to fully utilise advanced medical technologies.

Therefore, issuing the circular is necessary to regulate in detail the list of congenital diseases requiring prenatal and newborn screening, diagnosis and treatment, while creating favourable conditions for healthcare establishments to provide counselling and screening. It also provides a basis for localities to decide how to support the expansion of screening, depending on local economic conditions.

The draft circular states that the selection of congenital diseases for inclusion must meet principles of prevalence and disease burden, screening and diagnostic capability and feasibility, and socio-economic effectiveness.

Prevalence and disease burden mean the condition is widespread or has a high rate of gene mutations in the community, or causes serious health, physical and intellectual consequences for children.

Regarding screening and diagnostic capability, appropriate, safe and easy-to-implement screening methods must be available and licensed by competent authorities, alongside definitive diagnostic techniques to confirm disease status after screening.

Feasibility and socio-economic effectiveness are defined by compatibility with the equipment and human resources of the Vietnamese health system. Costs of screening, treatment and intervention must be affordable for the population or covered by the State budget and health insurance, while benefits from early detection and treatment must outweigh the costs of caring for patients diagnosed later.

According to the draft, the list of congenital diseases requiring prenatal screening, diagnosis and treatment includes 69 diseases across three groups.

The group of chromosomal and genetic diseases requiring routine screening includes Down syndrome (21 trisomies), Edwards syndrome (18 trisomies), Patau syndrome (13 trisomies) and Turner syndrome (45, X and related forms).

The group of foetal structural abnormalities requiring routine prenatal screening and diagnosis includes anencephaly or encephalomalacia, encephalocele, spina bifida, congenital hydrocephalus, holoprosencephaly and Arnold–Chiari syndrome.

Genetic diseases requiring screening and diagnosis when there is a personal or family history include spinal muscular atrophy, haemophilia A, Duchenne or Becker muscular dystrophy, fragile X syndrome and autosomal dominant polycystic kidney disease.

The draft also outlines a list of 21 congenital diseases requiring screening, diagnosis and treatment in newborns, including congenital hypothyroidism, congenital adrenal hyperplasia, G6PD (glucose-6-phosphate dehydrogenase) deficiency, galactosaemia, biotinidase deficiency, phenylketonuria (PKU) and thalassaemia.  VNS