Advancing Newborn Screening (NBS) in Indonesia

Since its inception in the 1960s, newborn screening (NBS) has been a cornerstone of public health. It began with the detection of phenylketonuria, a metabolic disorder, and has evolved to include a wide array of conditions. The expansion of NBS to encompass rare diseases and genetic disorders marks a significant advancement in early diagnosis and intervention. Today, many countries are presently screening over 30 different disorders including but not limited to congenital hypothyroidism, congenital adrenal hyperplasia, and critical congenital heart disease. This article mainly delves into the current state of newborn screening in Indonesia.

 

Importance of Newborn Screening (NBS)

The Centers for Disease Control and Prevention reports that over 13,000 newborns are diagnosed with a medical condition each year (Furu, 2024). Many of these conditions show no symptoms during the first few weeks of life, meaning a baby that appears healthy could still have an underlying issue that may impact their mental and physical development or even lead to early death. However, early detection makes many of these conditions treatable.

Newborn screening (NBS) offers a simple and cost-effective method to enhance public health by promptly identifying medical conditions in infants. It is important for several reasons:

1. 1. Early Detection: Newborn screening allows for the early identification of certain genetic, metabolic, and endocrine disorders that can have serious health consequences if left untreated.
   2. Timely Intervention: Early detection means early treatment. This can prevent severe health problems, developmental delays, and even death.
   3. Reduced Healthcare Costs: By identifying and treating conditions early, long-term healthcare costs can be significantly reduced. Managing a disorder in its early stages is often less expensive than treating it after complications arise.
   4. Improved Quality of Life: Early intervention can greatly improve the quality of life for affected children. This would allow them to lead healthier and more productive lives.
   5. Informed Family Planning: Newborn screening provides valuable information to families about their children’s health and can inform future family planning decisions.

Overall, newborn screening is a vital public health program that ensures better health outcomes for children and peace of mind for their families.

 

Tools Used in Newborn Screening (NBS)

NBS typically involves several technologies:

1. Dried Blood Spot (DBS) Test: A small blood sample is collected from the baby’s heel using a heel prick. The blood is then blotted onto a special filter paper card and allowed to dry. This dried blood spot is sent to a NBS laboratory for analysis.

 

2. Pulse Oximetry: This is a non-invasive test used in newborn screening to measure the level of oxygen in a baby’s blood. It is particularly useful for detecting critical congenital heart defects (CCHDs), which can lead to dangerously low blood oxygen levels (Kemper, 2024).

3. Emerging Technologies: Genomic sequencing, tandem mass spectrometry, and digital microfluidics enhance the accuracy and scope of screening, allowing for the identification of a broader range of conditions.

 

In Indonesia, while direct blood spot (DBS) test is the primary method used, integrating advanced technologies could enhance detection and management of conditions like CH and CCHD.

 

Current State of Newborn Screening in Indonesia

Indonesia has made significant strides in implementing newborn screening (NBS) programs. Launched in 2014, the national NBS program in Indonesia primarily focuses on congenital hypothyroidism (CH). This program marked a pivotal step in addressing preventable causes of mental retardation and other health issues in newborns (Gilbert Sterling Octavius et al., 2023). 

Despite this progress, several challenges remain:

• Screening Coverage: In 2022, only 2.3% of newborns were screened for CH, with 56 positive cases identified. However, this is significantly lower than the expected prevalence.

• Infrastructure Gaps: Indonesia has only 11 referral laboratories for CH screening, which limits accessibility for many regions.

• Recent Developments: In 2022, the Ministry of Health relaunced and expedited the NBS program, aiming to screen 463,000 newborns. By the end of the year, only 99,263 samples (21.4%) were screened.

Expanding coverage and improving infrastructure remain critical for scaling the program.

 

Incidence of Congenital Hypothyroidism (CH)

 

Globally, CH affects 1 in 3,000 newborns, with higher rates in iodine-deficient areas. In Indonesia, the prevalence in 2022 was 1 in 12,724, far below global averages due to limited screening coverage. Expanding coverage to meet the recommended 90% could reveal a prevalence closer to international norms.

 

Incidence of Critical Congenital Heart Disease (CCHD)

 

CCHD occurs in approximately 1:500 live births, equating to 9,000 cases annually in Indonesia. Without early detection and treatment, CCHD contributes to a high infant mortality rate (IMR) of 16.85 per 1,000 live births. Implementing pulse oximetry as part of routine NBS could address this gap.

 

Challenges in Implementing Newborn Screening (NBS) in Indonesia

The Newborn Screening (NBS) program in Indonesia focuses on early detection of congenital disorders in newborns, such as congenital hypothyroidism and critical congenital heart defects, to prevent long-term health issues. However, studies by Octavius et al. (2023) and Pulungan et al. (2024) highlight several challenges that hinder the program’s effectiveness:

1. 1. Data Availability: Limited prevalence data on conditions like Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasia (CAH) hampers effective policymaking. Research gaps exist in areas like preterm births, iodine levels, and geographic variations.
   2. Economic Barriers: High costs of equipment, consumables, and long-term follow-ups strain resources. The absence of health-technology assessments (HTA) further limits funding and program sustainability.
   3. Ethical Considerations: Issues include informed consent, opt-out policies, parental anxiety from false positives, and lack of clear guidelines on sample storage and privacy.
   4. Infrastructure Gaps: Insufficient laboratories, outdated hospital equipment, and limited IT systems hinder accurate diagnoses and follow-ups.
   5. Logistical Issues: Delayed sample distribution, prolonged reporting times, and lack of regulations for storage or disposal of screening cards disrupt program efficiency.
   6. Government Support: Inconsistent national policies and reliance on regional budgets impede program expansion beyond CH screening.
   7. Commitment Deficits: Minimal adherence to program requirements and delays in data submission weaken outcomes.
   8. Parental Awareness: Financial and geographic barriers, coupled with low awareness, reduce participation in confirmatory testing and antenatal consultations.
   9. Workforce Limitations: A shortage of trained health workers and specialists, particularly in rural areas, leads to sample rejections and unequal access to healthcare.

 

The Future of Newborn Screening (NBS) in Indonesia

The future of newborn screening (NBS) in Indonesia holds promise, despite current challenges. Efforts are underway to improve infrastructure, increase healthcare worker training, and expand screening programs. 

With continued government support and collaboration with professional advocates and support groups, NBS programs can become more comprehensive and effective. The goal is to ensure early detection and intervention for congenital disorders, ultimately improving health outcomes for newborns across the country.

Minister of Health Budi G. Sadikin emphasized the government’s commitment: “By the end of 2023, 1.2 million babies have been screened. Strategies include expanding laboratories, strengthening primary health systems, and raising public awareness.”

– This statement was sourced from the Ministry of Health’s official website (www.sehatnegeriku.kemkes.go.id). 

 

The Ministry of Health has developed several strategies to expand national coverage of newborn health screenings.

• Expanding Laboratory Facilities: This involves collaborating with local governments to enhance public health laboratory facilities and streamlining the transportation of screening samples for faster and more efficient processing.

• Strengthening Primary Health Systems: Efforts include equipping healthcare facilities with modern health infrastructure, improving maternal and newborn services in public and private health facilities, and ensuring comprehensive care for mothers and newborns.

• Raising Public Awareness: Promoting the importance of newborn health screenings through widespread health campaigns involving communities and individuals.

 

Join the Movement: Expanding Access to Newborn Screening for a Healthier Future

Addressing the challenges in newborn screening, such as the lack of specialized training, requires immediate action. Comprehensive training programs for healthcare workers (HCWs) are essential to ensure the success of NBS initiatives in Indonesia.

By investing in these programs, we can empower HCWs with the skills and knowledge needed to implement effective NBS programs. This will enhance early detection and treatment of congenital disorders, paving the way for a healthier future for newborns nationwide.

Let’s prioritize training and education to overcome these challenges and make a lasting impact on the health and well-being of our children.

Register today and join the movement to improve infant health in Indonesia!

 

 

 

References:

1. Aman Bhakti Pulungan, Helena Arnetta Puteri, Faizi, M., Paul Leslie Hofman, Agustini Utari, & Jean-Pierre Chanoine. (2024). Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey. International Journal of Neonatal Screening, 10(1), 8–8. https://doi.org/10.3390/ijns10010008
2. Direktorat Jenderal Tenaga Kesehatan, Direktorat Peningkatan Mutu Tenaga Kesehatan, Kementerian Kesehatan Republik Indonesia. (2023). Mata Pelatihan Dasar: Kebijakan program skrining bayi baru lahir pada PJB kritis dan gangguan skrining hipotiroid kongenital (SHK): Pelatihan skrining bayi baru lahir bagi dokter, bidan, perawat di puskesmas. Kementerian Kesehatan Republik Indonesia.
3. Furu, P. (2024). The Importance of Newborn Screening in Identifying Medical Disorders. Diagnostics from Technology Networks; Technology Networks. https://www.technologynetworks.com/diagnostics/articles/the-importance-of-newborn-screening-in-identifying-medical-disorders-391909
4. Giancarlo la Marca, Carling, R. S., Moat, S. J., Yahyaoui, R., Ranieri, E., Bonham, J. R., & Peter. (2023). Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm. 9(1), 15–15. https://doi.org/10.3390/ijns9010015
5. Gilbert Sterling Octavius, Vamela Adman Daleni, & Sagala, S. (2023). An Insight into Indonesia’s Challenges in Implementing Newborn Screening Programs and Their Future Implications. Children (Basel), 10(7), 1216–1216. https://doi.org/10.3390/children10071216
6. Gilbert Sterling Octavius, Vamela Adman Daleni, & Sagala, S. (2024). An Insight Into Indonesia’s Progress for Newborn Screening Program: What is Currently Going On. Heliyon, 10(13), e33479–e33479. https://doi.org/10.1016/j.heliyon.2024.e33479
7. Kemper, A. (2024). Newborn Pulse Oximetry Screening to Detect Critical Congenital Heart Disease. HealthyChildren.org. https://www.healthychildren.org/English/ages-stages/baby/Pages/Newborn-Pulse-Oximetry-Screening-to-Detect-Critical-Congenital-Heart-Disease.aspx
8. Murni, I. K., Wibowo, T., Arafuri, N., Oktaria, V., Dinarti, L. K., Panditatwa, D., Patmasari, L., Noormanto, N., & Nugroho, S. (2022). Feasibility of screening for critical congenital heart disease using pulse oximetry in Indonesia. BMC Pediatrics, 22(1). https://doi.org/10.1186/s12887-022-03404-0
9. Setyaningsih, W., & Dwi Wulandari, R. (2022). The Evaluation of Congenital Hypothyroidism Screening Program in Indonesia: A Literature Review. Jurnal Aisyah: Jurnal Ilmu Kesehatan. https://aisyah.journalpress.id/index.php/jika/