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Publications
Our publications highlight evidence-based research and pioneering diagnostic methods that are shaping the future of healthcare for women and children.
Most Recent
Clinical utility of PregascreenTM reflex genetic testing for pre-natal screening in Indian population: a new diagnostic approach
This large study of Indian pregnant women highlights the clinical value of Metropolis’ Pregascreen™ reflex approach, which integrates maternal biochemical markers with NIPT or karyotyping for more accurate prenatal screening. While traditional dual and quadruple marker tests identified 2.7% of women as high-risk, reflex testing with NIPT reclassified more than 90% of these cases as low-risk, significantly reducing false positives and avoiding unnecessary invasive procedures. The findings reinforce that Pregascreen™ reflex testing enables safer, clearer, and earlier risk assessment—supporting clinicians in timely decision-making and reducing anxiety for expecting mothers.
Cytogenetic Studies in Bad Obstetric History (BOH) and Infertility- A Retrospective Study from a Stand-Alone Laboratory
Bad Obstetric History (BOH) encompasses a pattern of recurrent pregnancy losses or complications, making detailed evaluation essential to identify root causes and guide informed reproductive planning. This retrospective study analysed couples with a history of BOH to evaluate the role of cytogenetic abnormalities in adverse reproductive outcomes. The findings reinforce that chromosomal analysis is a critical component of BOH evaluation, helping clinicians identify genetic causes, provide accurate risk assessment, guide prenatal counselling, and support couples in planning future pregnancies with informed reproductive choices.
Expanding the screening of newborns for detecting inborn errors in metabolism using Next Generation Sequencing following mass spectrometry/immunoassay
Next-generation sequencing (NGS) was combined with traditional newborn screening methods to improve detection of inborn errors of metabolism (IEM). Among over 53,000 newborns screened, the highest prevalence was observed for G6PD deficiency (1.98%) and congenital hypothyroidism (1.58%) using TR-FIA, while amino acid disorders, organic acidemias and urea cycle disorders were most frequent on TMS. NGS proved essential in confirming true positives and eliminating false positives across conditions like cystic fibrosis, galactosemia and argininemia
Comparative analysis of ThinPrep and CellSolutions liquid-based cervical cytology along with Human Papillomavirus DNA testing: a study of 412 cases
We compared two liquid-based cytology (LBC) methods — ThinPrep and CellSolutions — along with HPV-DNA testing in 412 cervical samples from the Indian population. It was concluded that HPV co-testing in combination with LBC improves screening precision, enhances early detection, and reduces unnecessary follow-up procedures — highlighting HPV testing as the most sensitive method in cervical cancer screening.
Mutation spectrum analysis in BRCA1/2 genes for hereditary breast and ovarian cancer in Indian Population.
This retrospective study evaluated the prevalence and spectrum of BRCA1/2 mutations in 500 Indian patients meeting NCCN criteria for hereditary breast and ovarian cancer (HBOC).A significant association was observed between BRCA positivity and both personal and family history of breast, ovarian, and related cancers. The study highlights the high burden of BRCA mutations in the Indian HBOC population, highlighting the importance of early genetic testing to guide timely surveillance, targeted therapies, and preventive strategies for patients and at-risk family members.
Thalassemia and hemoglobinopathies in pediatric populations: Prevalence, Diagnostic Insights, and Regional Patterns
Thalassemia and hemoglobinopathies are inherited disorders affecting the structure or production of hemoglobin, leading to varying degrees of anemia and lifelong health impact. Early detection through advanced screening plays a critical role in prevention, counselling, and improved clinical outcomes. Using high-performance liquid chromatography (HPLC), the study identified notable positivity across all age groups, with the highest incidence in children aged 4–9 years. The findings reinforce the importance of early and systematic screening to detect carriers and affected individuals, especially in regions with higher prevalence.
A Missed Diagnosis or Neglected Parental Premarital Counselling of Rare Case of Compound Heterozygous Sickle Cell-Beta+Thalassemia in Patient: Case Report
Sickle cell disease, an inherited haemoglobin disorder can lead to serious health complications if unrecognized. Prompt diagnosis enables appropriate monitoring, counselling, and preventive care for improved long-term outcomes. This case report highlights a rare instance of compound heterozygous HbS β-thalassaemia, a condition with a very low prevalence. The report emphasizes the difficulty in distinguishing compound haemoglobinopathies from isolated conditions and the importance of accurate diagnosis for optimal management.
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About Us
Metropolis Healthcare is one of India’s leading diagnostics companies, with 45 years of experience built on scientific expertise, quality and trust. We serve millions of patients through a growing network supported by advanced laboratory infrastructure, technology and a patient-first approach. Our comprehensive portfolio includes 4,500+ tests and profiles across routine, specialised and super-specialised diagnostics, spanning pathology, molecular diagnostics, genomics, cytogenetics, oncology, neurology, nephrology, women and child health, preventive healthcare and wellness.
With 210+ clinical laboratories and a service network of 5,000+ touchpoints reaching more than 750 towns in India, we are focused on making trusted diagnostic services more accessible while maintaining rigorous quality standards. By combining scientific excellence, advanced technology and human expertise, we deliver accurate, reliable and relevant diagnostic insights that support better-informed healthcare decisions.
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