ABSTRACT
Background & objectives: Triple test as prenatal screening procedure does not form a part of routine health care of pregnant women in India. Hence, median values of triple test biomarkers are lacking for Indian population. This study was undertaken to establish population-specific medians for biomarkers viz. alpha-foetoprotien (AFP), human chorionic gonadotropin (hCGβ), and unconjugated estriol (uE3) for detection of Down’s syndrome, Edward’s syndrome and neural tube defects (NTDs) in pregnant women in north-west India. Methods: Serum biomarker values were derived from 5420 pregnant women between 15-20 wk of gestation who were enrolled for triple test investigations at Department of Gynecology and Obstetrics, Government Medical College and Hospital, Chandigarh, India, between January, 2007 to December, 2009. Median values were calculated for rounded weeks using database comprising pregnancies with normal outcomes only. Simple statistical analysis and log-linear regression were used for median estimation of the biomarker values. Results: The levels of the three biomarkers were found to be ranging from 1.38 to 187.00 IU/ml for AFP, 1.06 to 315 ng/ml for hCGβ, and 0.25 to 28.5 nmol/l for uE3. The age of women ranged from 18 to 47 yr and mean weight was 57.9 ± 9.8 kg. Data revealed that AFP, hCGβ and uE3 medians in our study population were not significantly different from those reported from other countries or when compared ethnically. Interpretation & conclusion: The population-specific median values for the three biomarkers (AFP, hCGβ, uE3) may be used as reference values during prenatal screening in Indian pregnant women.
ABSTRACT
Objective To establish newborn screening in Indian scenario that could lay a framework for future such initiatives. Three disorders namely, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6- phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for newborn screening. Methods Heel-prick blood samples were collected from liveborn neonates at 24–48 h of birth as a part of a screening program after prior written consent from the parents. Blood levels of glucose-6-phosphate-dehydrogenase enzyme (G-6- PD), thyroid-stimulating hormone (TSH) and 17-α-OH progesterone (17-OHP) were measured using DELFIA time resolved fluoroimmunoassay. Results Six thousand eight hundred and thirteen (6,813) neonates (86.3%), out of a total of 7,893 live births in our institute during the period May’2007 through July’2009, were screened for CAH, CH and G6PD deficiency. Major reason for missing samples was early discharge of the neonates and admission to the neonatal intensive care unit. G-6-PD deficiency was confirmed in 61 cases, congenital hypothyroidism (CH) in 2 cases and congenital adrenal hyperplasia (CAH) in 1 neonate, accounting for an incidence of 1/112 for G-6-PDD, 1/ 3400 for CH and 1/6813 for CAH. Conclusions Preliminary data on prevalence of various genetic disorders viz. G-6-PDD, CH and CAH in the population of this region revealed that G-6-PDD is most prevalent disorder followed by CH and CAH. More efforts need to be undertaken to create awareness and emphasis on significance of preventive testing to make screening a successful program in India.