Tandem mass spectrometry newborn screening is available nationwide
 
The Department of Medical Sciences Ministry of Public Health, in collaboration with the National Health Security Office (NHSO), has expanded the tandem mass spectrometry screening for newborns nationwide.
 
The screening’s country-wide coverage was announced on 24 August during the press conference held at the Department of Medical Sciences headquarters in Nonthaburi province.


 
At the event, the NHSO Secretary-General Dr Jadej Thammatacharee said that the Universal Coverage Scheme (UCS) has covered tandem mass spectrometry screening for metabolic genetic diseases since October last year.
 
However, not all healthcare units can utilize the tandem mass spectrometry technique.
 
Only half of the 13 Regional Health Promotion Center have health institutes or hospitals that offer screening services to provincial health providers. They are Health Regions 2, 4, 7, 8, 9 and 12. The remaining regions lack this capability.
   
In Bangkok, only two health centers, Siriraj Hospital and Queen Sirikit National Institute of Child Health have provided the screening services to 19 hospitals meaning not all newborns in the capital are covered.

To address this gap, the Department of Medical Sciences has tapped its public health networks to allow the availability of tandem mass spectrometry screening in the remaining areas.

The department’s effort will enable all Thai children to receive comprehensive screening for metabolic genetic diseases shortly.


Dr Supakit Sirilak, the Director General of the Department of Medical Sciences, said that tandem mass spectrometry is an advanced technology that can help doctors conduct screening tests for metabolic genetic diseases within 48 hours of birth. It can test up to 40 diseases, including 24 rare diseases.

The testing is now available in public health centers country-wide, including the National Neonatal Screening Operation Center in Nonthaburi (covering Regional Health Promotion Center 3, 6, and 13).

The other centers are Regional Medical Sciences Center 1/1 Chiang Rai, 10 Ubon Ratchathani, and 11  Surat Thani — which are responsible for Regional Health Promotion Center 1, 10, and 11, respectively — and seven units of Rare Disease Center nationwide.

"Tandem mass spectrometry screening is of great importance. It helps us achieve our goal of providing early screening and treatment to newborns having metabolic genetic diseases,” said Dr Supakit.

“If we can detect the diseases early, we can promptly follow up with the parents and plan for the treatment. This will reduce the chances of children developing severe symptoms, resulting in cognitive disorders, complications, and even death.”

Regarding the service criteria, infants born with normal conditions and have a birth weight exceeding 2,500 grams will receive one screening under the UCS.


Those born prematurely and have low birth weight or are twinborn or ill from birth will receive a second screening at the second or third week of age.

If abnormalities are detected, the child will receive treatment within 24 hours in urgent cases, and within 48 hours in semi-urgent cases.

If rare diseases are detected, the infants will be referred to one of seven Thai Rare Disease Foundation located in Bangkok (Chulalongkorn Hospital, Thai Red Cross Society,
Ramathibodi Hospital, Siriraj Hospital, Phramongkutklao Hospital and Queen Sirikit National Institute of Child Health),



Pathum Thani (Thammasat University Hospital) and Khon Kaen (Srinagarind Hospital).
*The Universal Coverage Scheme covers tandem mass spectrometry screening for 24 metabolic genetic diseases which are,
 

• Organic acidurias
• Propionic acidemia
• Methylmalonic acidemia
• Cobalamine defect
• Isovaleric acidemia
• Glutaric acidemia type 1

• Maple syrup urine disease
• Urea cycle disorders, unspecific enzyme defect
• Ornithine transcarbamylase (OTC) deficiency
• NAGS deficiency
• Citrullinemia type 1
• Citrullinemia type 2
• Argininosuccinic aciduria (ASS dificiency)
• Arginase deficiency
• Phenylketonuria (PKU)
• Other specified disorders of amino acid metabolism
• Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
• Tyrosinemia type 1
• Disorders of fatty acid oxidation and ketogenesis
• Disorders of Carnitine cycle and Carnitine transport
• Systematic primary Carnitine deficiency
• Tetrahydrobiopterin deficiency
• Multiple carboxylase deficiency: Biotinidase deficiency
• Multiple carboxylase deficiency: Holocarboxylase deficiency

 
 
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