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I still remember the moment the ultrasound screen lit up at 31 weeks. All signs pointed to Beckwith-Wiedemann Syndrome (BWS), a rare genetic overgrowth disorder. Yet, this was a diagnosis we had almost missed. The earlier scans at 19–20 weeks had reported no abnormalities. A C-section was performed at 32 weeks. The newborn, a baby girl, died within five days due to airway complications.
This case is a painful reminder that rare genetic conditions are often diagnosed too late. This often stems from gaps in tools, awareness, and their integration into routine care. Most parents aren’t given the chance to prepare psychologically, financially, or medically for this heartbreaking reality.
There are approximately 6,000–8,000 known rare diseases worldwide. Globally, rare diseases affect 3.5–5.9% of the population, translating to about 263-446 million people. Organisation for Rare Diseases India (ORDI) estimates that around 72-96 million people in India are affected by rare diseases. BWS, specifically, affects roughly 1 in 10,000 live births. Yet almost all of these cases go undetected.
India’s National Policy for Rare Diseases, 2021, does include provisions for preventive prenatal screening but acknowledges limited infrastructure and accessibility in public systems. While the policy calls for a hospital-based rare disease registry under ICMR, a fully functional registry is still under development. This means public prenatal care often misses critical third-trimester scans. Advanced diagnostics like Multiplex Ligation-dependent Probe Amplification (MLPA) or Next-Generation Sequencing (NGS) are recognised as reliable, cost-effective molecular diagnostic methods for detecting known deletions and duplications. Yet in practice, these tests remain confined to private labs in urban India. Access becomes even more limited in Tier 2 or Tier 3 cities.
India continues to face a shortage of genetic counsellors and dedicated fetal medicine specialists, limiting access to prenatal diagnostics. Besides systemic issues, there’s a general fear or hesitancy around invasive testing like amniocentesis, where a sample of amniotic fluid is taken to test the baby’s genes.
To reduce preventable neonatal deaths and lifelong disabilities, radiology, genetic testing, and molecular diagnostics must be regarded as central components of prenatal care, not optional add-ons. The diagnosis of BWS in this case was made in the third trimester, thanks to advanced imaging. However, not everyone has this opportunity due to the lack of qualified radiologists at most health care centres.
It is time we end the practice of treating diagnostics as a privilege for a few. Routine third-trimester ultrasounds, access to fetal medicine specialists, and the inclusion of MLPA or NGS testing in government-funded schemes like Janani Suraksha Yojana or PMJAY should be fast-tracked. The National Policy for Rare Diseases already acknowledges the need for preventive prenatal diagnostics. What we need now is large-scale implementation, especially in areas beyond metro cities.
Parents also play a vital role. While deciding to undergo invasive testing can be challenging, these tests should be seen as valuable tools for obtaining information. Timely diagnosis enables parents and doctors to make more informed decisions. With proper counselling, trust in science, and increased public health support, we can reduce the number of babies lost or adversely affected.
Rare diseases may be statistically uncommon, but they are no less painful for affected families. Building a healthier population starts with embracing diagnostics—not as emergency measures but as standard care.
This article is authored by Dr Pallavi A Gajakosh, foetal medicine and obstetrics and gynecology, Surya Mother and Child Super Specialty Hospital, Pune.
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