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Objectives <p>Prenatal diagnosis (PND) is an effective measure to prevent births with transfusion-dependent β-thalassemia (TDT) and other severe hemoglobinopathies. However, multicentric consolidated data from high-volume Indian referral laboratories is limited.</p> Methods <p>The authors collated a multi-center experience of invasive PND for β-thalassemia and the major hemoglobinopathies, including center-wise volumes, affected-fetus rates, trends in primigravida referrals, and diagnostic challenges from seven Indian tertiary-care referral centers with a minimum of 10 y PND services. Retrospective data were contributed by SGRH-New Delhi, ICMR-NIIH-Mumbai, PGIMER-Chandigarh, AIIMS-New Delhi, NIMS-CDFD-Hyderabad, CMC-Vellore and SGPGI-Lucknow. Carrier evaluation was based on blood counts and Hb-HPLC. Fetal diagnosis utilized chorionic villus sampling or amniocentesis with molecular testing by ARMS-PCR, reverse dot-blot and/or Sanger sequencing as per local practices. Descriptive analyses summarized volumes, proportions of fetuses with biallelic <i>HBB</i> variants, and primigravida referral trends.</p> Results <p>Across centers, 6,780 PND procedures were performed over 2015–2024, with ICMR-NIIH and SGRH contributing 58.2% of total testing. The proportion of fetuses diagnosed with biallelic <i>HBB</i> variants ranged from 20.3% to 27.3%, approximating the expected one-quarter risk for autosomal recessive Mendelian inheritance in at-risk couples. Among centers reporting data, primigravida referrals increased over the decade (SGRH 14.3% to 21.6%, NIIH 8% to 23%, AIIMS 7.1% to 29.8%, PGIMER 9.6% to 23.4%), while the early 2020s showed a transient decline in PND volumes, consistent with COVID-19 era disruptions.</p> Conclusions <p>This multi-center experience demonstrates sustained and expanding PND capacity in India, with affected-fetus detection rates close to Mendelian expectations and rising primigravida referrals suggesting improving impact of antenatal screening pathways.</p>

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Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India

  • 期刊论文

  • 发表日期：

    2026年3月23日

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  • Reena Das,
  • Anita Nadkarni,
  • Sudha Kohli,
  • Prashant Sharma,
  • Amita Singh,
  • Deepti Saxena,
  • Shagun Aggarwal,
  • Eunice Sindhuvi Edison,
  • Pratibha Sawant,
  • Renu Saxena,
  • Sadhna Arora,
  • Jasbir Kaur Hira,
  • Angalena Ramachandran,
  • Elizabeth Thomas,
  • Neerja Gupta,
  • Manisha Madhai Beck,
  • Pallavi Thakar,
  • Rashmi Bagga,
  • Aparna Sharma,
  • Sudhisha Dubey,
  • Manju Goriwale,
  • Madhumita Roy Chowdhury,
  • Sanjay Joshi,
  • Ashish Chiddarwar,
  • Subhas Chandra Saha,
  • Varsala Dhadwal,
  • Manisha Sharma,
  • Ashwin Dalal,
  • Shilpa Rani,
  • Sanjeev Chhabra,
  • Ramachandran V Shaji,
  • Kausik Mandal,
  • Sunita Bijarnia-Mahay,
  • Prabhakar S. Kedar,
  • Deepika Deka,
  • Shubha Phadke,
  • Roshan Colah,
  • Madhulika Kabra,
  • Ratna Dua Puri

摘要

Objectives

Prenatal diagnosis (PND) is an effective measure to prevent births with transfusion-dependent β-thalassemia (TDT) and other severe hemoglobinopathies. However, multicentric consolidated data from high-volume Indian referral laboratories is limited.

Methods

The authors collated a multi-center experience of invasive PND for β-thalassemia and the major hemoglobinopathies, including center-wise volumes, affected-fetus rates, trends in primigravida referrals, and diagnostic challenges from seven Indian tertiary-care referral centers with a minimum of 10 y PND services. Retrospective data were contributed by SGRH-New Delhi, ICMR-NIIH-Mumbai, PGIMER-Chandigarh, AIIMS-New Delhi, NIMS-CDFD-Hyderabad, CMC-Vellore and SGPGI-Lucknow. Carrier evaluation was based on blood counts and Hb-HPLC. Fetal diagnosis utilized chorionic villus sampling or amniocentesis with molecular testing by ARMS-PCR, reverse dot-blot and/or Sanger sequencing as per local practices. Descriptive analyses summarized volumes, proportions of fetuses with biallelic HBB variants, and primigravida referral trends.

Results

Across centers, 6,780 PND procedures were performed over 2015–2024, with ICMR-NIIH and SGRH contributing 58.2% of total testing. The proportion of fetuses diagnosed with biallelic HBB variants ranged from 20.3% to 27.3%, approximating the expected one-quarter risk for autosomal recessive Mendelian inheritance in at-risk couples. Among centers reporting data, primigravida referrals increased over the decade (SGRH 14.3% to 21.6%, NIIH 8% to 23%, AIIMS 7.1% to 29.8%, PGIMER 9.6% to 23.4%), while the early 2020s showed a transient decline in PND volumes, consistent with COVID-19 era disruptions.

Conclusions

This multi-center experience demonstrates sustained and expanding PND capacity in India, with affected-fetus detection rates close to Mendelian expectations and rising primigravida referrals suggesting improving impact of antenatal screening pathways.