28 • PERINATOLOGY Vol 24 • No. 1 • May–Aug 2023 Inclusion and exclusion criteria All pregnant women at < 20 weeks of gestation, attending the outpatient antenatal care (ANC) clinic were eligible for enrollment in the study. Women were educated regarding hemoplobinopathies, and informed consent was obtained. Patients with known hemoglobinopathy and those who had received packed red cell transfusion 3 months prior to this study were excluded. Study procedure A total of 615 women were enrolled in the study, of which 352 (57.24%) were from 8 different primary health centers and subcenters, and the remaining were from the hospital’s outpatient ANC clinic. With the help of medical officers, nursing staff, health workers, and accredited social health activists (ASHA workers), ANC camps were conducted at these centers. Demographic and clinical data of women were noted in a standard template. For the laboratory investigations, 2 mL of blood was collected in ethylenediaminetetraacetic acid bulbs. RBC indices were analyzed using Mindray CAL 6000 (Mindray India, Mumbai, Maharashtra, India). High-performance liquid chromatography (HPLC; Bio-Rad variant II hemoglobin testing system-beta thalassemia short program, Life Science, Gurgaon, Haryana, India) was used to analyze the blood samples for Hb. A diagnosis of BTT was made if HbA2 is > 3.5% with microcytosis (mean corpuscular volume [MCV] < 80 fL) and hypochromia (MCH < 27 pg). Diagnosis of the carrier status of other hemoglobinopathies was made by testing for the presence of specific abnormality in Hb on HPLC. The blood samples of the husbands of women with BTT or other hemoglobinopathy carriers were subjected to HPLC to identify at-risk couples and prevent the birth of progenies with β-thalassemia major or other significant hemoglobinopathies. The at-risk couples were offered counseling, and antenatal testing was done using chorionic villous sampling or amniocentesis. The fetal sample was tested for thalassemia mutations. Sanger sequencing–based DNA analysis was performed to identify the mutations in the coding region and reported mutations in the noncoding regions of the β-globin gene (HBB). Mutation surveyor software V5.1.1 (SoftGenetics, State College, PA, USA) was used for identifying the mutations, and the identified sequence alterations were reported in accordance with the Human Genome Variants Society nomenclature.17 Couples with fetuses positive for hemoglobinopathies were counseled and advised medical termination of pregnancy. The direct cost of HPLC testing (INR 600 [USD 7] per test) and amniocentesis and mutation analysis (INR 10,000 [USD 121] per test) was calculated. Statistical analyses Data were analyzed using SPSS version 27.0 for Windows (IBM Corp, Armonk, NY, USA). Qualitative data were expressed as frequency and percentage. Quantitative data were expressed as mean ± SD. Unpaired t test was used for the comparative analysis of the quantitative data of abnormal and normal patient groups. Χ2 test was done for the comparative analysis of the qualitative data of the abnormal and normal patient groups. Receiver operating characteristic curve was used to find the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for various parameters. P < .05 was considered statistically significant. Results We approached 727 pregnant women for β-thalassemia screening during the study period. However, 112 (15.4%) women refused, and 615 (84.6%) were enrolled in the study. Reasons for refusal are presented in Table 1. Mean age of the women was 25.02 ± 3.60 years. There were 253 (41.14%) primigravidas and 362 (58.86%) multigravidas. Of the 615 (39.19%) women, 241 women were in the first trimester, and 374 (60.81%) women were in the second trimester. The study population comprised women who practiced Hindu (524 [85.2%]) and Muslim religions (80 [13%]). Original Article Sampagar A, et al. Feasibility and Cost Analysis of Antenatal Screening and Diagnosis of Hemoglobinopathies
RkJQdWJsaXNoZXIy MjAwNDg=