Sheth Jayesh, Dhondekar Tejasvi, Ajagekar Manali, Datar Chaitanya, Kher Archana, Trivedi Jigish, Thakkar Swati, Gandhi Ajit, Soni Meenakshi, Chaudhary Mayank, Banker Manish, Jalan Anil, Muranjan Mamta, Munshi Sujal, Munshi Ami, Pandya Mili, Shah Jhanvi, Nair Aadhira, Bhavsar Riddhi, Sheth Frenny, Sheth Harsh
FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.
Bharati Hospital and Research Centre, Dhankawadi, Pune, India.
Orphanet J Rare Dis. 2025 Sep 2;20(1):471. doi: 10.1186/s13023-025-04003-9.
Rare genetic disorders are increasingly diagnosed due to advancing genetic technology, whilst, treatment for them is challenging. Therefore, their prevention by prenatal diagnosis is a way forward to reduce the overall burden. The present study provides an overview of a cohort of patients who were offered prenatal diagnosis for genetic disorders at a tertiary genetic center in India.
The study included 1,738 prenatal samples for the period of 2008 to 2022, identified as being at high risk for rare genetic disorders based on family history, previous affected children, and abnormal ultrasound findings. Participants underwent prenatal diagnostic tests, including chorionic villus sampling or amniocentesis, or fetal blood by various molecular techniques and enzyme-based studies. Data regarding patient demographics, types of disorders screened, and diagnostic outcomes were collected and analyzed.
Of the 1738 cases, 467 (26.87%) prenatal samples were identified as being affected by genetic anomalies. The diagnosed conditions included hematological disorders (n = 735/1738, 42.28%), inborn errors in metabolism (n = 513/1738, 29.52%), neurological disorders (n = 310/1738, 17.84%), musculoskeletal disorders (n = 45/1738, 2.59%), and other rare genetic disorders (n = 135/1738, 7.77%). Early diagnosis facilitated timely medical information and provided options for prevention, such as medical termination of pregnancy (MTP) in affected cases after genetic counseling.
Our study demonstrates that prenatal diagnosis for rare genetic disorders is an invaluable step toward reducing the burden of these conditions. The use of advanced genetic techniques, combined with genetic counseling, enables effective prevention strategies. However, challenges such as accessibility, cost, and ethical considerations continue to pose barriers to widespread implementation in India. Increased awareness and government policy support are essential to make these diagnostic services universally available and affordable.
随着基因技术的进步，罕见遗传病的诊断越来越多，而对其进行治疗具有挑战性。因此，通过产前诊断对其进行预防是减轻总体负担的一种途径。本研究概述了印度一家三级遗传中心为患有遗传病的患者提供产前诊断的情况。
该研究纳入了2008年至2022年期间的1738份产前样本，这些样本根据家族史、之前患病的孩子以及异常超声检查结果被确定为患有罕见遗传病的高风险人群。参与者接受了产前诊断测试，包括绒毛取样或羊膜穿刺术，或通过各种分子技术和基于酶的研究获取胎儿血液样本。收集并分析了有关患者人口统计学、筛查的疾病类型以及诊断结果的数据。
在1738例病例中，467份（26.87%）产前样本被确定受到基因异常影响。诊断出的疾病包括血液系统疾病（n = 735/1738，42.28%）、先天性代谢缺陷（n = 513/1738，29.52%）、神经系统疾病（n = 310/1738，17.84%）、肌肉骨骼疾病（n = 45/1738，2.59%）以及其他罕见遗传病（n = 135/1738，7.77%）。早期诊断有助于及时提供医疗信息，并为预防提供选择，例如在遗传咨询后，对受影响的病例进行医学终止妊娠（MTP）。
我们的研究表明，对罕见遗传病进行产前诊断是减轻这些疾病负担的宝贵一步。先进基因技术与遗传咨询相结合，能够制定有效的预防策略。然而，可及性、成本以及伦理考量等挑战继续阻碍着印度广泛实施这些策略。提高认识和政府政策支持对于使这些诊断服务普及且可负担至关重要。
