District hospitals can bring specialized prenatal diagnosis closer to rural families, study says

A large multi-state study has shown that specialized prenatal diagnostic services for thalassemia and sickle cell disease can be provided safely and effectively through district hospitals and referral networks, potentially bringing advanced preventive care closer to families in rural and semi-urban areas of 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 analyzed the results of a prevention program led by Bengaluru-based Sankalp India Foundation in collaboration with state governments, the National Health Mission and fetal medicine specialists in Karnataka, Gujarat, Maharashtra, Andhra Pradesh and Madhya Pradesh.

2.18 million pregnant women

As of 2021, more than 2.18 thousand pregnant women in 82 districts and 87 maternity centers underwent screening for hemoglobin disorders. Through the coordinated referral network, 2,092 invasive prenatal diagnostic procedures were performed, helping to prevent 286 births affected by severe hemoglobin disorders.

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

“Traditionally, invasive prenatal diagnosis was only available in cities like Delhi, Mumbai, Hyderabad or Bengaluru. For many families in tribal and remote areas, traveling to these centers 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 program addresses this gap by linking screening centers with 26 existing fetal medicine centers and centralized diagnostic laboratories.

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

The screening program includes both thalassemia and sickle cell disease. “The test used to identify thalassemia is the same as that used to identify sickle cell disease. We have been treating them in a combined screening program since the beginning,” Mr. Agarwal said.

The role of district hospitals

The study highlighted the role of district hospitals as entry points to advanced preventive health care. Most families entered the diagnostic pathway through district health facilities.

The researchers found no sample loss and minimal diagnostic failures despite the fact that samples were collected at multiple locations and transported to central laboratories. The program relied on the StopThal digital platform to coordinate counseling, referrals, laboratory workflows and patient follow-up.

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

The safety results were encouraging. Spontaneous abortions after the procedure were reported in only 0.4% of cases, a figure that compares favorably with rates reported in the international literature.

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

“Many policy discussions assume that any advanced service requires new infrastructure, new buildings and new investment. This study shows that existing public health systems can be strengthened and linked to achieve the same result,” he said.

Consequences

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

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

“The challenge is no longer to prove that prevention works. The challenge is to ensure that every family at risk, no matter where they live, has access to informed decisions and early diagnosis,” he said.

Published – 13 Jun 2026 19:16 IST