<p>Chromosomal disorders, encompassing congenital abnormalities (e.g., Down syndrome, Turner syndrome) and acquired aberrations (e.g., translocations in leukemia), significantly contribute to morbidity and mortality. However, their true burden is vastly underreported in low- and middle-income countries like India due to diagnostic limitations, lack of centralized registries, and sociocultural barriers. We conducted a systematic review and meta-epidemiological mapping of 774 peer-reviewed studies (1960–2025), identifying 86 congenital and 20 acquired chromosomal disorders from India, affecting 36, 294 and 1, 358 cases respectively. Alarmingly, 94.78% of congenital and 77% of acquired disorders, had a single report, thus indicating a stark mismatch between published data and expected clinical prevalence. Down syndrome was the most common congenital disorder, while chronic myeloid leukemia and multiple myeloma led among acquired types, as per reports in published literature. Severe regional disparities were noted with central and northeastern India contributing negligible data, implying under-documentation. Information on parental age, a known risk factor for many chromosomal disorders, was missing in 86.48% of cases, with paternal age missing in 92.60% and maternal age underreported in 86.48% cases. Thus, based on limited reports, mean maternal age (27.93&#xa0;years) appeared artificially low. Data on consanguinity were reported merely in 19 cases. This first-of-its-kind national review consolidates decades of fragmented data and highlights substantial underreporting, with clear regional and institutional biases. While reporting has improved with diagnostic advances, it remains uneven. The findings underscore the urgent need for national genetic registries, population-wide screening, and robust reporting systems. Addressing these data gaps is essential for accurate burden estimation, equitable healthcare access, and informed policy development in genetic medicine across India.</p> Graphical Abstract <p></p>

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Deciphering the burden of chromosomal disorders in India, bridging the gap between clinical reality and documented evidence: a systematic review and meta-epidemiological mapping of congenital and acquired abnormalities

  • Dwaipayan Saha,
  • Preyangsee Dutta,
  • Sutanuka Sengupta,
  • Shadaan Shahid,
  • Mainak Sengupta

摘要

Chromosomal disorders, encompassing congenital abnormalities (e.g., Down syndrome, Turner syndrome) and acquired aberrations (e.g., translocations in leukemia), significantly contribute to morbidity and mortality. However, their true burden is vastly underreported in low- and middle-income countries like India due to diagnostic limitations, lack of centralized registries, and sociocultural barriers. We conducted a systematic review and meta-epidemiological mapping of 774 peer-reviewed studies (1960–2025), identifying 86 congenital and 20 acquired chromosomal disorders from India, affecting 36, 294 and 1, 358 cases respectively. Alarmingly, 94.78% of congenital and 77% of acquired disorders, had a single report, thus indicating a stark mismatch between published data and expected clinical prevalence. Down syndrome was the most common congenital disorder, while chronic myeloid leukemia and multiple myeloma led among acquired types, as per reports in published literature. Severe regional disparities were noted with central and northeastern India contributing negligible data, implying under-documentation. Information on parental age, a known risk factor for many chromosomal disorders, was missing in 86.48% of cases, with paternal age missing in 92.60% and maternal age underreported in 86.48% cases. Thus, based on limited reports, mean maternal age (27.93 years) appeared artificially low. Data on consanguinity were reported merely in 19 cases. This first-of-its-kind national review consolidates decades of fragmented data and highlights substantial underreporting, with clear regional and institutional biases. While reporting has improved with diagnostic advances, it remains uneven. The findings underscore the urgent need for national genetic registries, population-wide screening, and robust reporting systems. Addressing these data gaps is essential for accurate burden estimation, equitable healthcare access, and informed policy development in genetic medicine across India.

Graphical Abstract