Circular Regulating the List of Congenital Diseases to be Screened Prenatally and Neonatally

This Circular by the Ministry of Health regulates the list of congenital diseases that are encouraged for screening during both prenatal and neonatal periods. The list includes various types of diseases such as metabolic disorders, genetic diseases, congenital malformations... in order to detect early so as to take timely intervention measures.

文号12/2026/TT-BYT
文件类型Circular
发布机关Ministry of Health
签署人Đỗ Xuân Tuyên — Thứ trưởng
更新22/06/2026
行业Health
领域Population
发布日期15/05/2026
生效日期01/07/2026
失效日期
状态In effect
✦ 智能摘要

This Circular by the Ministry of Health regulates the list of congenital diseases that are encouraged for screening during both prenatal and neonatal periods. The list includes various types of diseases such as metabolic disorders, genetic diseases, congenital malformations... in order to detect early so as to take timely intervention measures.

适用范围

Healthcare facilities and organizations related to medical treatment and screening of congenital diseases in Vietnam.

要点

  • The list of congenital diseases encouraged for prenatal screening includes 70 types of diseases.
  • The list of congenital diseases encouraged for neonatal screening includes 33 types of diseases.
  • The method of dried blood spot (DBS) sampling is used in some cases for neonatal screening.
  • To detect early the presence of congenital diseases so as to take timely intervention measures, thereby minimizing the consequences for children and their families.
  • This Circular will help improve the quality of medical treatment and child health care services for mothers and children in Vietnam.

🌐 本文件的社会影响

  • To detect early dangerous congenital diseases, thus taking timely intervention measures.
  • To raise community awareness of the importance of prenatal and postnatal screening.
  • To strengthen the healthcare system to implement medical treatment and child health care services for mothers and children.

❓ 常见问题

Does this list include congenital malformations?

Yes, the list includes various types of congenital malformations, including those affecting the circulatory system and other types of malformations.

In which cases is the dried blood spot sampling method used?

This method is primarily used for neonatal screening to detect metabolic disorders, genetic diseases...

全文

4

MINISTRY OF HEALTH

No.: /2026/TT-BYT

THE SOCIALIST REPUBLIC OF VIET NAM

Independence - Freedom - Happiness

Hanoi, May 5, 2026

CIRCULAR

Regulating the List of Prenatal and Neonatal Screening Recommended Congenital Diseases

BASED ON THE POPULATION LAW No. 113/2025/QH15;

BASED ON THE MEDICAL EXAMINATION AND TREATMENT LAW No. 15/2023/QH15;

BASED ON DECREE No. 42/2025/NĐ-CP dated February 27, 2025 of the Government on the Functions, Powers, Tasks, and Organizational Structure of the Ministry of Health;

IN ACCORDANCE WITH THE RECOMMENDATION OF THE DIRECTOR OF THE POPULATION SECTION;

THE MINISTER OF HEALTH ISSUES THIS CIRCULAR TO REGULATE THE LIST OF PREGNANCY AND NEONATAL SCREENING RECOMMENDED CONGENITAL DISEASES.

Article 1. List of Congenital Diseases Recommended for Prenatal and Neonatal Screening

The list of congenital diseases recommended for prenatal screening, as specified in Appendix I, and the list of congenital diseases recommended for neonatal screening, as specified in Appendix II, are annexed to this Circular to provide detailed provisions under Clause 1 of Article 21 of the Population Law.

Article 2. Interpretation of Terms

A congenital disease is any structural or functional abnormalities (including metabolic disorders) occurring during fetal development and causing adverse effects on an individual's health.

Article 3. Principles for Formulating the List of Congenital Diseases

The selection of congenital diseases to be included in the list must ensure compliance with the following principles:

1. Prevalence and Burden of Disease:

a) Congenital diseases that have a high prevalence or carry a high risk of genetic mutation within the community, or cause severe health, physical, and intellectual consequences for children;

b) Congenital diseases that result in high mortality rates among children or lead to lifelong disabilities, affecting the quality of the human race.

2. Screening and Diagnostic Capabilities:

a) There are appropriate, safe, and easily implementable screening methods;

b) There are diagnostic methods or techniques available to confirm the disease status after screening results.

3. Feasibility and Economic-Social Efficiency:

a) Compliant with the equipment and human resource capacity of the Vietnamese healthcare system;

b) Screening costs are appropriate for the ability to pay of individuals or the national budget or health insurance;

c) The economic-social benefits gained from early detection, treatment, and intervention outweigh those obtained from late detection.

Article 4. Implementation

This Circular comes into effect on July 1, 2026.

Article 5. Organization of Implementation

1. Population Section:

a) Shall coordinate with relevant units to guide, direct, and inspect the implementation of this Circular nationwide;

b) Shall review and propose revisions or supplements to the list every two years or when there are professional, technical, or legal requirements, in coordination with the Population Section;

c) Shall work with the Mother and Child Section, the Medical Examination and Treatment Management Section, and relevant units to develop, update, and submit for approval procedures and guidelines on prenatal and neonatal screening, diagnosis, and treatment according to the provisions of the Medical Examination and Treatment Law;

d) Shall publish the list of congenital diseases recommended for prenatal and neonatal screening on the Population Section's website and the Ministry of Health's portal.

2. Mother and Child Section shall work with the Population Section, the Medical Examination and Treatment Management Section, and relevant units to develop, update, and submit for approval procedures and guidelines on prenatal and neonatal screening, diagnosis, and treatment according to the provisions of the Medical Examination and Treatment Law.

3. Medical Examination and Treatment Management Section shall work with the Population Section, the Mother and Child Section, and relevant units to develop, update, and submit for approval procedures and guidelines on prenatal and neonatal screening, diagnosis, and treatment according to the provisions of the Medical Examination and Treatment Law.

4. Provincial Health Authorities:

a) Shall direct and organize the implementation of this Circular;

b) Shall direct or review, advise relevant authorities to invest in infrastructure, equipment, and human resources for healthcare facilities under their management to ensure sufficient capacity for prenatal and neonatal screening;

c) Shall intensify information and communication efforts to inform the public about the importance of prenatal and neonatal congenital disease screening.

5. Healthcare Facilities:

a) Shall implement prenatal and neonatal screening, diagnosis, and treatment in accordance with the professional procedures issued by the Ministry of Health. Diagnosis and treatment for congenital diseases shall be conducted according to the provisions of the Medical Examination and Treatment Law;

b) Regional Screening Centers shall perform their assigned tasks and take responsibility for provinces and cities as designated by the Minister of Health.

">In case of difficulties or obstacles, entities may report to the Ministry of Health (Population Section) for guidance and resolution./.

To:                  

- Central Committee of the Communist Party of Vietnam;

- Prime Minister, Deputy Prime Ministers of the Government;

- Ministries, agencies at ministerial level, and subordinate bodies under the Government;

- People's Councils and People's Committees of provinces and centrally-administered cities;

- Central Party Committee offices and committees;

- Office of the General Secretary;

- Office of the President;

- Ethnic Affairs Committee and other National Assembly Committees;

- Office of the National Assembly;

- Supreme People's Court;

- Supreme People's Procuratorate;

- Audit Agency;

- Social Policy Bank;

- Vietnam Investment Bank;

- Central Committee of the Vietnamese Fatherland Front;

- Central offices of political and social organizations;

- Minister of Health (for record);

- Deputy Ministers of Health (for coordination and guidance);

- Provincial People's Committees of provinces and centrally-administered cities;

- Departments, Sections, Offices under the Ministry of Health;

- Office of the Government: Gazette; Portal of the Government;

- Portal of the Ministry of Health;

- Population Section offices in provinces and centrally-administered cities;

- VT, CDS, PC.

KT. MINISTER OF HEALTH

DEPUTY MINISTERS

DO XUAN TUYEN

 

MINISTRY OF HEALTH

THE SOCIALIST REPUBLIC OF VIET NAM

Independence - Freedom - Happiness

Appendix I

LIST OF RECOMMENDED CONGENITAL DISEASES FOR PREGNANCY AND NEONATAL SCREENING

(Annexed to Circular No. /2026/TT-BYT dated May 5, 2026 of the Minister of Health)

STT

ICD-10

Disease Name

Group I

Common Chromosomal and Genetic Diseases Requiring Prenatal Screening

D56

1

Thalassemia [Congenital Anemia]

Q90.0

2

Q90.0

Triploid chromosomal abnormality, failure to segregate during meiosis

3

Q91.0

Triploid chromosomal abnormality 18, failure to segregate during meiosis

4

Q91.4

Triploid chromosomal abnormality 13, failure to segregate during meiosis

5

Q96.0

Chromosome formula 45,X

6

Q98.0

Klinefelter syndrome with chromosome formula 47,XXY

7

Q90-Q99

Chromosomal abnormalities, not classified elsewhere

Group II

Structural fetal anomalies requiring prenatal screening are common

8

Q00.0

Anencephaly

9

Q01

Hydrocephalus ex vacuo

10

Q03

Congenital hydrocephalus

11

Q04.2

Total anterior encephalocele

12

Q05

Spina bifida occulta, with or without sacral dimple and/or tuft of hair

13

Q07.0

Chiari malformation I

14

Q11.1

Other congenital eye anomalies

15

Q20-Q28

Congenital cardiovascular defects

16

Q33.3

Pulmonary agenesis or hypoplasia

17

Q35

Cleft lip and palate

18

Q36

Cleft lip with cleft palate

19

Q37

Cleft lip and palate

20

Q39

Congenital esophageal atresia or stenosis

21

Q41.0

Congenital duodenal atresia, stenosis, or hypoplasia

22

Q60.1

Congenital jejunal atresia, stenosis, or hypoplasia

23

Q62.0

Bilateral renal agenesis

24

Q64.2

Congenital obstructive uropathy

25

Congenital urethral valves after birth

Clubfoot or other congenital foot deformities

26

Q69

Polydactyly

27

Syndactyly

Congenital upper limb deficiency

28

Congenital lower limb deficiency

Congenital hip dislocation or dysplasia

29

Q72

Congenital contractures of multiple joints

30

Q75.0

Craniosynostosis

31

Q77.1

Short stature due to skeletal dysplasias [dwarfism]

32

Q77.4

Achondroplasia, a form of short stature

33

Q78.0

Osteogenesis imperfecta

34

Q79.0

Congenital diaphragmatic hernia

35

Q79.2

Congenital intracranial herniation through the foramen ovale

36

Q79.3

Congenital visceral exenteration [through a periumbilical defect]

37

Group III

Prenatal screening is recommended for chromosomal and genetic disorders with family history

38

D57

Sickle cell anemia

D58.2

Other hereditary hemolytic anemias

39

D66

Hemophilia A due to factor VIII deficiency

40

D67

Hemophilia B due to factor IX deficiency

41

E25.0

Congenital adrenal hyperplasia related to enzyme deficiency

42

E70.0

Classic phenylketonuria

43

E70.2

Tyrosinemia

44

E71.0

Maple syrup urine disease

45

E71.1

Other organic acid metabolism disorders

46

E71.2

Organic acid metabolism disorder, not otherwise specified

47

E71.3

Fatty acid oxidation disorders

48

E72.1

Sulfur-containing amino acid metabolism disorders

49

E72.2

Urea cycle disorders

50

E72.3

Lysine and hydroxylysine metabolism disorders

51

E72.4

Ornithine metabolism disorders

52

E72.5

Glycine metabolism disorders

53

E74.0

Glycogen storage disease

54

E74.2

Galactosemia

55

E74.4

Pyruvate and/or glucose metabolism disorders

56

E75.0

GM2 gangliosidosis

57

E75.2

Other sphingolipidoses

58

E76.0

Mucopolysaccharidosis type I (MPS I)

59

E76.1

Mucopolysaccharidosis type II (MPS II)

60

E84

Scleroderma

61

G12.0

Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]

62

G12.1

Other hereditary spinal muscular atrophies

63

G71.0

Myotonic dystrophy

64

Q61.2

Autosomal dominant polycystic kidney disease

65

Q85.0

Benign neurofibromatosis (non-malignant)

66

Q85.1

Sclerodermatous conditions

67

Q87.4

Marfan syndrome

68

Q99.2

Fragile X chromosome

69

Ministry of Health

Socialist Republic of Vietnam

70

Independence - Freedom - Happiness

Appendix II

LIST OF CONGENITAL DISORDERS RECOMMENDED FOR SCREENING

NEWBORN SCREENING EXAMINATION

(Accompanying Circular No. /2026/TT-BYT dated May 5, 2026 of the Minister of Health)

A. Congenital disorders recommended for screening without using dried blood spots on filter paper

STT

ICD-10 Code

Name of Disorder

H90

Sensorineural and/or conductive hearing loss

H91

Other hearing disorders

1

Q20-Q28

Congenital cardiovascular defects

2

B. List of congenital disorders recommended for screening using dried blood spots on filter paper

STT

3

ICD-10 Code

Name of Disorder

I. Basic congenital disorders recommended for newborn screening E03.0

Congenital hypothyroidism with goiter

E03.1

Congenital hypothyroidism without goiter

E03.8

1

Other congenital hypothyroidism

E25.0

2

Congenital adrenal hyperplasia due to enzyme deficiency

D55.0

3

Hemolytic anemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency

II. Amino acid metabolism disorders

4

E70.0

Classic phenylketonuria

5

E70.1

Other hyperphenylalaninemia

E71.0

Maple syrup urine disease

6

E70.2

Tyrosinemia

7

E72.1

Sulfur-containing amino acid metabolism disorders

8

III. Organic acid metabolism disorders

E71

9

Amino acid metabolic disorders, including branched-chain and/or fatty acid oxidation disorders

E71.1

10

Other branched-chain amino acid metabolic disorders

E72.3

Lysine and hydroxylysine metabolism disorders

11

E53.8

Other vitamin B deficiency

12

E72.8

Other amino acid metabolic disorders

13

IV. Fatty acid oxidation disorders

E71.3

14

Fatty acid oxidation disorders

V.

15

Urea cycle disorders

E72.2

Urea cycle disorder

16

VI. Glycogen storage disease

E74.0

Glycogen storage disease VII. Other genetic disorders

17

E75.2

Galactosemia

18

G12.0

Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]

G12.1

19

Other hereditary spinal muscular atrophies

E84

20

Scleroderma

D81.0

21

Severe combined immunodeficiency with lattice degeneration

D81.1

22

Severe combined immunodeficiency with low T and B cell counts

D81.2

Severe combined immunodeficiency with normal or low B cell count

23

D56

Thalassemia [sickle cell anemia]

24

D57

Sickle cell disease

25

D58.2

Other hemolytic anemias

26

G71.0

Myotonic dystrophy

27

D81.0

Combined Severe Immunodeficiency [SCID] with Lymphohistiocytosis

28

D81.1

Combined Severe Immunodeficiency [SCID] with Low T and B Cell Counts

29

D81.2

Combined Severe Immunodeficiency [SCID] with Low or Normal B Cell Count

30

D56

Thalassemia [Congenital Hemolytic Anemia]

31

D57

Sickle Cell Dyserythroid Condition

32

D58.2

Other Hemoglobinopathy

33

G71.0

Myopathic Disorder

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