- Tay-Sachs disease is a rare inherited disorder caused by disease-causing variants in the HEXA gene and can lead to progressive neurological damage in affected children.
- The case highlights the value of thoroughly exploring family history, genetic counseling, and advanced genomic testing when there is a history of unexplained childhood illness, developmental problems or recurrent adverse pregnancy outcomes, fostering a sense of appreciation for comprehensive care.
Delhi, 8th October 2026: A case report by Redcliffe Labs researchers, published in the Iranian Journal of Neonatology, shows how advanced genetic testing can reliably identify a rare inherited disorder even when routine prenatal ultrasound shows no major abnormalities, encouraging trust in modern diagnostics.
The study, titled “A Rare Case of Antenatally Diagnosed Tay-Sachs Disease,” was authored by researchers including Dr. Himani Pandey of Redcliffe Labs and published in Volume 17, Issue 3 of the Iranian Journal of Neonatology. It describes a 30-year-old woman at 19 weeks of pregnancy with a significant history of unexplained childhood illness and deaths in the family. Her two previous daughters had died at 11 months and five years of age, while another daughter had developed seizures and global developmental delay.
Despite the concerning family history, the prenatal ultrasound did not reveal major abnormalities. Given the history of consanguinity and previous children with suspected metabolic or neurodegenerative disorders, clinicians pursued genetic evaluation. Whole-exome sequencing of both parents, followed by Sanger sequencing of the fetus, identified disease-causing variants in the HEXA gene associated with Tay-Sachs disease.
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder. It occurs when a child inherits disease-causing variants in the HEXA gene from both parents, reducing production of the lysosomal enzyme beta-hexosaminidase A and causing the accumulation of certain fatty substances in nerve cells. The resulting neurological deterioration can be severe and life-threatening.
The case illustrates an important limitation of relying on routine imaging alone for suspected inherited disorders. Prenatal ultrasound remains an essential part of pregnancy care, but some genetic conditions may not produce detectable structural abnormalities at the time of scanning. In such situations, family history can provide the clinical clue that prompts genomic investigation.
This is especially important when a family history includes unexplained childhood deaths, seizures, developmental delays, recurrent pregnancy or infant loss, known or suspected inherited disease, or consanguineous marriage. A thorough family history can serve as a vital clinical clue that prompts genetic testing and counseling, encouraging clinicians to incorporate family history assessment into routine prenatal care to improve early diagnosis.
The Indian context makes this research area particularly relevant. A multicentric Indian study of 34 enzymatically confirmed Tay-Sachs families identified 25 different HEXA variants, with 67% of the genotypes observed in the cohort being novel. The findings highlighted substantial molecular heterogeneity among Indian patients with Tay-Sachs disease and variants that may be particularly relevant to the Indian population.
The wider burden of lysosomal storage disorders in India also remains an important area of study. Research from Indian diagnostic cohorts has documented Tay-Sachs among the lysosomal storage disorders identified in affected children. At the same time, researchers have noted that the regional distribution and prevalence of several such disorders remain poorly understood.
Dr. Himani Pandey, Lab Head – Genomics, Redcliffe Labs, and corresponding author of the study, said: “Many rare inherited disorders may not be detectable through routine prenatal ultrasound alone. A detailed family history can provide important clinical clues, while advanced genomic testing can help identify the underlying genetic cause. In families with a previous history of unexplained childhood illness or recurrent adverse pregnancy outcomes, timely genetic evaluation may support earlier diagnosis and more informed reproductive and clinical decision-making.”
Aditya Kandoi, Founder & CEO, Redcliffe Labs, said: “Every diagnosis has a human story behind it. For families dealing with a rare genetic condition, finding the right answer can make a significant difference to the decisions they take next. This is why investing in research and publishing our clinical findings matters; it advances understanding of rare and inherited conditions and strengthens the standard of care available to families across India. Our aim is not only to make advanced diagnostics accessible, but also to contribute evidence that can help clinicians recognize conditions that may otherwise remain undiagnosed.”
Genomic testing can complement traditional prenatal investigations, providing a more comprehensive assessment. Once a disease-causing genetic variant is identified, targeted testing and genetic counseling enable clinicians to evaluate risks for future pregnancies and support families in making informed reproductive choices, emphasizing the value of integrating genetic testing into clinical practice for better outcomes.
At Redcliffe Labs, genomic investigations include Whole-Exome Sequencing, Clinical Exome Sequencing, targeted genetic testing, Sanger sequencing, chromosomal microarray and prenatal genetic investigations. These capabilities support investigations of rare, inherited, and reproductive health conditions.
For Redcliffe Labs, the publication reflects a broader commitment to clinical research and evidence generation in diagnostics. The company actively contributes to clinical research on rare, inherited, and reproductive health conditions to translate diagnostic insights into better clinical decision-making.
Ultimately, this case’s significance extends beyond a single pregnancy. It demonstrates how integrating family history, clinical suspicion, genetic counseling, and advanced genomic testing can uncover inherited conditions that may not be visible through routine investigations alone- providing reassurance and confidence to families seeking informed care.
