Latest news with #NationalExpandedNewbornScreening
The Star
26-07-2025
- Health
- The Star
Singapore's national screening programme tests newborns for metabolic and heritable diseases
The screening is a preventive measure to detect health problems before symptoms appear. -- ST PHOTO: VANESSA PAIGE CHELVAN SINGAPORE (The Straits Times/ANN): All newborns at 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 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 was expanded in 2019 and now allows more than 40 types of diseases to be detected in newborns. These include: Phenylketonuria, which gives the baby a musty smell and lighter skin and can lead to intellectual disability, seizures, behavioural problems and mental disorders. Glutaric acidemia type 1, which prevents the body from breaking down certain amino acids properly. This leads to a harmful build-up 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 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. Nens can also detect other diseases, including five treatable serious childhood-onset conditions such as severe combined immunodeficiency (SCID) and cystic fibrosis. SCID, also known as '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 levels of 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. - The Straits Times/ANN .
Straits Times
26-07-2025
- Health
- Straits Times
Singapore's national screening programme tests newborns for metabolic and heritable diseases
Find out what's new on ST website and app. 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 Top stories Swipe. Select. Stay informed. Singapore Almost half of planned 30,000 flats in Tengah to be completed by end-2025: Chee Hong Tat Asia Cambodia calls for ceasefire with Thailand after deadly clashes Asia Behind deadly Thai-Cambodian clashes, a bitter spat between two dynastic leaders Multimedia Lights dimmed at South-east Asia's scam hub but 'pig butchering' continues Business How parents can prevent disputes over their properties Sport Mikkel Lee gets back up to speed as Singapore swimmers eye 2028 Olympics spots Business Banking and finance jobs will change but won't disappear as AI becomes the new normal: Accenture Asia Hottest 'ticket' in Jakarta? Young Indonesians compete for a slot at this novel club * 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.
Time of India
10-06-2025
- Health
- Time of India
Singapore SCID case: Indian-origin baby beats rare disorder; Stem-cell transplant saves life
Representative photo A 19-month-old Indian-origin boy in Singapore has made a remarkable recovery from a rare and life-threatening genetic disorder, thanks to a timely stem-cell transplant , according to a report by The Straits Times. Mannat Singh was just six days old when doctors diagnosed him with severe combined immunodeficiency (SCID), a condition that left him dangerously vulnerable—even to something as common as the flu. Born in Singapore, Mannat holds the distinction of being the first baby in the country to be diagnosed with SCID at birth. He underwent a successful stem-cell transplant in 2023, a crucial step that came before the onset of symptoms. Today, Mannat is thriving, the newspaper reported. His specific condition, known as Artemis SCID , is an extremely rare and recessive form of radiosensitive SCID. This meant certain treatments like radiation and specific scans were off-limits. by Taboola by Taboola Sponsored Links Sponsored Links Promoted Links Promoted Links You May Like Giao dịch vàng CFDs với mức chênh lệch giá thấp nhất IC Markets Đăng ký Undo Without intervention, Mannat would not have survived beyond his first birthday, the report said. His mother, Harminder Kaur, a 39-year-old nurse, spoke about the emotional weight she carried after learning about her son's condition. 'Because I made him this way,' she said, recalling her initial feelings of guilt and fear. His father, Harminder Singh, also 39 and an IT consultant, admitted the prognosis was hard to accept. 'It did not help our state of mind when his odds were stacked against him,' he said. Now, with Mannat healthy and growing, Kaur said, 'I feel now that life has returned to normal and we have put the past behind us.' The diagnosis was made at KK Women's and Children's Hospital (KKH) through the National Expanded Newborn Screening (NENS) programme. Launched in 2006, NENS initially aimed to screen all newborns in Singapore for metabolic and heritable diseases. In 2019, the programme broadened its scope to include five additional treatable childhood-onset conditions , including SCID and cystic fibrosis. Dr Bianca Chan, a consultant in the rheumatology and immunology service at KKH, emphasized the importance of early detection. 'The highest success is when it is performed within the first three to four months of life, before the baby develops significant infections. This makes SCID screening at birth crucial for early diagnosis to actively prevent infection,' Dr Chan said. She added that the only real cure for SCID is a bone marrow transplant from a healthy donor. Stem cells from the donor's bone marrow can develop into the T-cells that SCID babies critically lack, allowing them to build a functioning immune system. (With PTI inputs)
