PRENATAL SCREENING AND DIAGNOSIS OF THALASSEMIA: PREVENTING THALASSEMIC BIRTHS
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Keywords
Thalassemia, Antenatal Screening, Prenatal Diagnosis, Hemoglobinopathies, β- thalassemia Trait, Pregnancy
Abstract
Background: Thalassemia is one of the most common hereditary disorders in India. Early antenatal screening, spousal testing, and prenatal diagnosis (PND) are key strategies to prevent thalassemia major births.
Objectives: To assess the role of antenatal screening, spousal testing, and PND in identifying carrier couples and reducing thalassemia major births.
Methods: A cross-sectional study was conducted at RNT Medical College, Udaipur, including 1,280 pregnant women in the first and early second trimester. Screening was done using high- performance liquid chromatography (HPLC). Carrier women were advised spousal testing; at- risk couples were offered PND through chorionic villi sampling (CVS) or amniocentesis.
Results: The total 1,280 pregnant women were screened, of wich 92 (7.2%) were identified as carriers. The most common abnormality was beta-thalassemia trait (5.0%), followed by sickle cell trait (1.25%) and rare variants such as Hb-D, Hb-E, Hb-C, and alfa-thalassemia. Among 68 spouses tested, 5 (7.4%) had beta-thalassemia trait and 1 (1.5%) had sickle cell trait. Five couples were classified as “at risk”; four underwent prenatal diagnosis, which detected one fetus with thalassemia major, two with thalassemia minor, and one normal fetus. The acceptance rate of prenatal testing was 80%. Conclusion: Antenatal screening with spousal testing and PND is feasible and effective in preventing thalassemia major births. Integration of such programs into routine maternal care, especially in high-prevalence tribal areas, is essential.
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Dr. Mahendra Kumar Yadav
Post Graduate Student, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Rameshwar Lal Suman
Senior Professor and Head, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Jai Singh
Principal Specialist Pediatrics District Hospital & GMC Chittorgarh Rajasthan
Dr. Himani Dendor
Post Graduate Student, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Mukesh Kumar Jat
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Nimilika Meena
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Amal Raj
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Jatin Prajapati
Senior Resident, Department of Community Medicine, World College of Medical Sciences and Research, Jhajjar, Haryana, India
