Antenatal Screening for Haemoglobinopathies and Maternal Outcomes at a Rural Healthcare Facility in Piparia, Gujarat, India: A Prospective Cohort Study

Introduction: Haemoglobinopathies are inherited genetic blood disorders caused by defects in the structure or production of haemoglobin. World Health Organisation (WHO) estimates that approximately 5% of the world’s population carries a gene for a haemoglobin disorder. Each year, over nine million carrier women become pregnant, leading to more than 332,000 affected pregnancies or births worldwide, mostly in low- and middle-income countries. In India, it is estimated that over 10,000 children are born annually with thalassaemia or Sickle Cell Disease (SCD). Thus, early detection through systematic antenatal screening is crucial to identify carriers, enables risk assessment for the foetus, and guides appropriate genetic counselling for prevention of severe haemoglobin disorders. Aim: To evaluate prevalence of haemoglobinopathies in antenatal women and identify their association with maternal complications. Materials and Methods: This prospective cohort study was conducted in the Department of Pathology at a rural tertiary healthcare facility in Piparia, Gujarat, India, from January 2024 to June 2025. A consecutive sampling technique was used, and all antenatal women attending the Department of Obstetrics and Gynaecology during the study period who met eligibility criteria and provided written informed consent were enrolled. Universal antenatal screening was performed for all enrolled participants, and a total of 1,770 antenatal women were included in the study. Participants were followed prospectively from enrollment until delivery. Maternal outcomes were assessed using hospital medical records and obstetric case files, and relevant obstetric and delivery outcomes were documented using standardised clinical records. All participants underwent routine antenatal laboratory investigations, including Complete Blood Count (CBC). Blood samples were further analysed using the sickling test and haemoglobin analysis on a Bio-Rad Variant II High-Performance Liquid Chromatography (HPLC) analyser (Bio-Rad Laboratories, Hercules, California, USA) for the detection and characterisation of haemoglobinopathies. Results: In the present study, a total of 1,770 antenatal women were screened for haemoglobinopathies, and 210 were found to have a haemoglobinopathy, resulting in a prevalence of 11.86%. Of the 210 women diagnosed with a haemoglobinopathy, Sickle Cell Trait (SCT) was the most common, found in 176 participants (83.8%). The occurrence of preterm delivery, preeclampsia, and postpartum haemorrhage was significantly higher among women with haemoglobinopathies than among those without haemoglobinopathies. Women with haemoglobinopathies had a 3.35-fold higher risk of preterm delivery {Relative Risk (RR)=3.35; 95% Confidence Interval (CI): 2.74-4.10; p<0.00001}, a 2.22-fold higher risk of preeclampsia (RR=2.22; 95% CI: 1.76- 2.80; p<0.00001), and a 2.80-fold higher risk of postpartum haemorrhage (RR=2.80; 95% CI: 1.93-4.07; p<0.00001) compared to women without haemoglobinopathies. Conclusion: The present study found an association between haemoglobinopathies and adverse maternal outcomes, including preeclampsia, preterm delivery, and postpartum haemorrhage. These findings highlight the importance of routine antenatal screening, early diagnosis, appropriate genetic counselling, and multidisciplinary obstetric care for b pregnant women with haemoglobinopathies. Strengthening screening programs and integrating them into public health planning is essential