Singapore's national screening programme tests newborns for metabolic and heritable diseases

Straits Times

26-07-2025

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It is a preventive measure to detect health problems before the symptoms appear.
SINGAPORE – All newborns at the KK Women's and Children's Hospital (KKH) are screened for metabolic and heritable diseases under the National Expanded Newborn Screening (Nens) programme.
It is a preventive measure to detect health problems before the symptoms appear.
The procedure – which is not legally mandated – involves pricking a baby's heels to collect a blood sample between 24 and 72 hours after birth.
Started in 2006, the programme has detected various metabolic and heritable diseases, including:
* Phenylketonuria, which gives the baby a musty smell and lighter skin and can lead to intellectual disability, seizures, behavioural problems, and mental disorder;
* Glutaric Acidemia Type 1, which prevents the body from breaking down certain amino acids properly. This leads to a harmful buildup of substances, potentially causing brain damage and movement difficulties:
* Maple syrup urine disease, a rare disorder where the body cannot properly break down certain amino acids, causing a characteristic maple syrup odour; and
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* Congenital adrenal hyperplasia, where the body does not produce enough of the hormone cortisol, resulting in the inability to keep blood pressure, blood sugar and energy at healthy levels.
The screening programme was expanded in 2019 and now allows more than 40 types of diseases to be detected in newborns.
Besides the four conditions listed earlier, Nens can also detect other diseases, including five treatable serious childhood-onset conditions such as severe combined immunodeficiency (SCID) and cystic fibrosis.
SCID or the 'bubble boy disease' is a condition where a baby is born without a functioning immune system.
Screening involves checking the baby's blood for DNA fragments called T-cell receptor excision circles (Trecs), which show whether the immune system is producing T-cells properly. These white blood cells play a crucial role in preventing infections.
While the test does not confirm an SCID diagnosis, abnormalities such as low or absent Trecs indicate that the baby needs to undergo more testing.
In 2024, all newborns at KKH were screened under Nens, while the national screening rate in Singapore is 96 per cent.