A large multi-state study has shown that specialised prenatal diagnostic services for thalassemia and sickle cell disease can be delivered safely and effectively through district hospitals and referral networks, potentially bringing advanced preventive care closer to families in rural and semi-urban India.

The findings, published in the journal Blood Global Hematology, come as India pursues its goal of eliminating sickle cell disease and substantially reducing the burden of thalassemia by 2047.

The study analysed outcomes from a prevention programme led by Bengaluru-based Sankalp India Foundation in partnership with State governments, the National Health Mission and fetal medicine specialists across Karnataka, Gujarat, Maharashtra, Andhra Pradesh and Madhya Pradesh.

2.18 lakh pregnant women

Since 2021, more than 2.18 lakh pregnant women across 82 districts and 87 maternity centres have undergone screening for haemoglobin disorders. Through a coordinated referral network, 2,092 invasive prenatal diagnostic procedures were performed, helping prevent 286 births affected by severe haemoglobin disorders.

Unlike conventional models that require families to travel to metropolitan centres for prenatal diagnosis, the programme connected pregnant women identified as being at risk to fetal medicine specialists located closer to their homes.

“Traditionally, invasive prenatal diagnosis was available only in cities such as Delhi, Mumbai, Hyderabad, or Bengaluru. For many families in tribal and remote districts, travelling to these centres during pregnancy was simply not possible,” Rajat Kumar Agarwal, President of Sankalp India Foundation and corresponding author of the study, told The Hindu.

He said the programme addressed this gap by linking screening centres with 26 existing fetal medicine centres and centralised diagnostic laboratories.

“We did not create new centres of excellence. We used existing doctors, existing hospitals and existing expertise. Samples were collected locally and sent to accredited central laboratories. The study demonstrates that this approach is both safe and effective,” he said.

The screening programme covers both thalassemia and sickle cell disease. “The test used to identify thalassemia is the same one used to identify sickle cell disease. From the beginning, we treated them as part of a combined screening programme,” Mr. Agarwal said.

District hospitals’ role

The study highlighted the role of district hospitals as entry points into advanced preventive healthcare. Most families entered the diagnostic pathway through district-level public health facilities.

Researchers found no sample loss and minimal diagnostic failures despite samples being collected across multiple locations and transported to central laboratories. The programme relied on a digital platform, StopThal, to coordinate counselling, referrals, laboratory workflows, and patient tracking.

According to the study, 66.2% of high-risk couples opted for invasive prenatal testing after counselling, while 61.7% completed prenatal diagnosis. Among families where the foetus was found to be affected by a severe haemoglobin disorder, nearly two-thirds chose medical termination of pregnancy after counselling and informed decision-making.

The safety outcomes were encouraging. Post-procedure spontaneous abortion was reported in only 0.4% of cases, a figure that compares favourably with rates reported in international literature.

Mr. Agarwal said one of the key contributions of the study was demonstrating that sophisticated prenatal diagnostic services need not remain confined to large tertiary centres.

“Many policy discussions assume that every advanced service requires new infrastructure, new buildings and new investments. What this study shows is that existing public health systems can be strengthened and connected to achieve the same outcome,” he said.

Implications

The study concluded that a three-step model comprising screening through high-performance liquid chromatography (HPLC), molecular confirmation, and invasive prenatal diagnosis can provide high-quality and resource-efficient services. The model offers a scalable pathway for reducing the burden of transfusion-dependent thalassemia and severe sickle cell disease across India.

Mr. Agarwal said the findings arrive at a time when large-scale screening efforts are expanding nationally, but access to prenatal diagnosis remains uneven.

“The challenge is no longer proving that prevention works. The challenge is ensuring that every at-risk family, regardless of where they live, has access to informed choices and timely diagnosis,” he said.