|Year : 2020 | Volume
| Issue : 2 | Page : 132-136
A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency
Suprava Patel1, Phalguni Padhi2, Ritu Priya1, Tripty Naik3, Rachita Nanda1, Eli Mohapatra1
1 Department of Biochemistry, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
2 Department of Neonatology, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
3 Department of Pediatrics, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India
|Date of Submission||17-Feb-2020|
|Date of Decision||19-Jun-2020|
|Date of Acceptance||10-Oct-2020|
|Date of Web Publication||24-Dec-2020|
Dr. Rachita Nanda
Department of Biochemistry, All India Institute of Medical Sciences, Raipur, Chhattisgarh
Source of Support: None, Conflict of Interest: None
Introduction: Newborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established.
Aim and Objective: The aim and objective of the study was to assess the burden of Congenital Hypothyroidism (CH) and Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency in this area by NBS tests and to assess the impact of awareness sessions on the response rate of parents for NBS.
Material and Methods: The screening was conducted in 474 babies of age 48 h up to 8 weeks. The dried blood spots collected were subjected to the following analytical protocol. Thyroid-stimulating hormone (TSH) level and G6PD enzyme activity were analyzed by immunofluorescence method-based neonatal kits. All babies with a positive screening test for G6PD deficiency and CH were asked for venous confirmatory testing after 7 days.
Results: The efficiency of the program for all live birth babies delivered in the institute was 92% (n = 410/445). It was 82% in the first phase of the study period and 98.5% in the second phase. Repeated training of nursing professional reduced the sampling errors from 14.7% in the first phase to 6.1% in the second phase. A total of 11 samples reflected high TSH values, of which one baby confirmed for CH. Of the 24 babies who screened positive for G6PD, four were confirmed for the same. The prevalence for CH and G6PD deficiency was, respectively, 1 in 462 (2/1000) and 4 in 462 (8.7/1000).
Conclusion: Development of expansion of NBS program in the state should be made mandatory for all newborns. The recommendations include awareness among parents, during antenatal and postnatal period and also to health professionals and provision for laboratory facilities for NBS testing at low cost.
Keywords: Congenital hypothyroidism, efficiency, glucose 6-phosphate dehydrogenase, prevalence, recall response, sampling errors
|How to cite this article:|
Patel S, Padhi P, Priya R, Naik T, Nanda R, Mohapatra E. A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency. Indian J Community Fam Med 2020;6:132-6
|How to cite this URL:|
Patel S, Padhi P, Priya R, Naik T, Nanda R, Mohapatra E. A cross-sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6-phosphate dehydrogenase deficiency. Indian J Community Fam Med [serial online] 2020 [cited 2021 Mar 7];6:132-6. Available from: https://www.ijcfm.org/text.asp?2020/6/2/132/304789
| Introduction|| |
Newborn screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. The obstacles to access for NBS are enormous, and thus, developments for the program are slow and partial. One of the two major limitations is the cost, as these testing facilities are mainly catered by private laboratories. The diagnostic facilities in India are not available at primary health-care centers. Very few government medical colleges and hospitals provide the facilities for the same and that through by pilot projects or small-scale studies only.,, There are no such related published studies in the state of Chhattisgarh.
The second challenge is the lack of awareness regarding the Inborn Errors of Metabolism (IEM) and NBS program in the Indian population.
The basic requisite for a disorder to be included in the screening program is that there should be enough epidemiological data regarding the disease burden. Besides, there should also be adequate knowledge of natural history; a sensitive diagnostic test which is cost-effective should be available and more importantly, treatment should be effective.,
Congenital Hypothyroidism (CH) is considered the most common of all IEM. A study by Sanghvi and Diwakar revealed an incidence of 2.1/1000 among inborn term infants. The second most common is glucose 6-phosphate dehydrogenase (G6PD) deficiency in Central India, the percentage varies from 3.4% to 21.3% in tribal population of Bhils and Gonds.
Due to the paucity of laboratory facilities, the disease burden in our population has not yet been established. Hence, the aim of the study was to assess the burden of CH and G6PD deficiency in this area by newborn screening tests.
| Material and Methods|| |
The study was conducted in the department of biochemistry with collaboration with the department of pediatrics of our institute. It was a cross-sectional study. As the prevalence of IEM is very less, sample size calculation is not feasible. Our institute is a newly established institute with tertiary care facility. Department of obstetrics was newly established and catered nearly 100 deliveries per month (during the study period: 2017–2018) inclusive of normal and high-risk pregnancy cases. The small size sample population is definitely the major limitation, but the said factors might not affect the prevalence of inborn errors of metabolic disorders. Hence, a convenient sampling method was applied for the study and 474 newborns were recruited for the study. All babies after 48 h up to 8 weeks of age delivered in the institute or attending at the pediatric Outpatient Department (OPD) and admitted in ward for treatment purposes were included in the study. For babies with any sort of complications, sampling was done on the day of discharge. Written informed consent was obtained from the parents of babies after educating regarding the advantages of newborn screening in the ward.
Under strict aseptic precautions, capillary blood was obtained by heel prick and two spots were collected on an adsorbent filter paper (Whatman 903) so that the drop evenly filled the entire circle and equally soaked on both sides of the spot. Once collected, the cards with Dried Blood Spots (DBS) were air-dried at room temperature for 4 h and then transported to the laboratory for analysis in a zipper plastic bag. Criteria for exclusion were as follows:
1. Any sample not fulfilling the above procedure
- The circle not evenly filled the entire circle
- The spot not soaked equally on both sides
- The spot not adequately dried
- The DBS sample not transported in a zipper plastic bag.
The parents were called for repeat sampling in case the laboratory receives any improper samples as mentioned above. Samples of those babies who responded to the recall, were re-collected under supervision to be included and processed; however, those who did not respond were considered withdrawn and excluded from the analysis.
The DBS collected were subjected to the following analytical protocol. Thyroid-stimulating hormone (TSH) level and G6PD enzyme activity were analyzed by immunofluorescence method-based Neonatal kits by Labsystems Diagnostics Oy, VANTAA, Finland. Cutoff value considered for TSH was 10 mIU/L and that for G6PD was 3 U/Gm of Hb. Babies with TSH values above 10 mIU/L and G6PD values <3 U/GmHb were immediately informed and called for confirmation. To perform confirmatory tests, venous blood sample was collected in plain vacutainer (one ml for serum TSH and T4 estimation) and in ethylenediaminetetraacetic acid vacutainer (one ml for whole blood G6PD estimation). Confirmatory test for serum TSH along with T4 levels was estimated by chemiluminescence method in Advia Centaur XP and quantitative G6PD activity in whole blood using enzyme kinetic method by G-Six kit from Tulip Diagnostics.
During the entire study period of 8 months, counseling and awareness programs were conducted in antenatal OPD and postnatal wards and all parents were provided with information brochures regarding NBS and its importance. Similarly, all nursing personals were also made aware of the significance of NBS and frequent training sessions were organized for heel prick collection of DBS samples. One counseling session for each mother was conducted in the postnatal ward prior to signing written informed consent. It included one-to-one conversation, distribution of handout materials in regional languages, and video of the procedure for needle prick.
Counseling and training sessions were also conducted for 16 nursing staffs of postnatal and pediatrics neonatal wards in a batch of four in each month for 4 months. A small batch was deliberately chosen for efficient skill-based hands-on training so that they become competent enough for counseling parents and sample collection. For each batch, 1 h training was conducted for three consecutive days, followed by weekly supervision throughout the sampling period. The training sessions included PowerPoint presentation and printed handouts along with hands-on training for each nursing staff. The study period was divided into two phases, 4 months in each phase. Two phases differed by the fact that in the first phases, the nursing staff were not much aware of NBS and procedure for DBS sampling as compared to the second phase. The first phase is basically the preparatory phase and the second one is the postpreparatory phase to see the effectiveness of preparatory phase. To see the effect of the awareness program and training sessions, a comparison study between the first and second phase of the study was done with respect to the consent of parents for the enrollment of their babies in the study, recall response of parents, and proper sampling of DBS by nursing personals.
| Results|| |
The total number of babies enrolled in the study was 474. For the institutional deliveries, the response rate of the parents for consent to enroll their babies in the study for the screening of CH and G6PD deficiency varied from 72% to 89%, average of 82% [n = 142/173; [Table 1] in the first 4 months. In the next phase, the efficacy for counseling for enrollment increased to 95%–100% for all the institutional live births delivered. The response rate was observed to be 100% for parents of neonates admitted through OPD [Figure 1]. A total of 43 DBS samples were considered improper during the study period. The response for recall for repeat sampling was about 71% (31 parents of the 43 were responsive). Hence, 12 (2.5%) DBS samples could not be analyzed due to improper sampling and were considered withdrawn. Of the total 462 samples analyzed, 11 babies were found to have raised TSH levels (>10 mIU/L) and 24 were detected as G6PD deficient (<3U/gmHb) in the first screening. The serum TSH and T4 levels confirmed for CH in one baby and the blood G6PD activity in four babies were confirmed to be low. Thus, the prevalence of CH in the studied population was found to be nearly 1 in 462 (0.2%, 2/1000) and that of G6PD deficient was nearly 4 in 462 (0.9%, 9/1000). All the G6PD deficient cases were males and only two presented with hyperbilirubinemia. These babies had no history of ABO or Rh incompatibility.
|Table 1: Comparison of the laboratory evaluation for newborn screening during the study period|
Click here to view
| Discussion|| |
A cross-sectional study was conducted on 474 neonates to estimate the burden of congenital hypothyroidism and G6PD deficiency in this area. The prevalence of CH and G6PD deficiency was found to be 2/1000 and 9/1000 live births, respectively.
The newborn screening program was started as a pilot project to assess the burden of CH and G6PD deficiency in the babies delivered or attending our institute. The efficiency of the program for all live birth babies delivered in the institute was 92% [n = 410/445; [Figure 1]. It was 82% in the first 4 months of the study period and 98.5% after that. The main reasons were unwillingness of parents for a prick of their newly born baby and early discharge of mothers due to limited beds available in the ward. The increase in response could be achieved by creating awareness among parents during the antenatal visits and also in the postnatal stay in the ward. All parents were distributed with the basic information sheet during the counseling. Almost none of the parents were familiar to NBS. Not only parents but also repeated attempts to visit the clinicians were made to update them regarding the current practices for NBS. Davis et al. in their study also had confirmed regarding lack of awareness for NBS in parents and clinicians and recommended that adequate knowledge of the health-care providers could be essentially the best way to create awareness among parents. The 100% response observed in parents who admitted their babies through OPD could be due to the fact that they were already anxious and were readily willing to go for such health-care facility.
Nearly 9% samples of the study subjects were considered to be improper and the parents were informed and called for repeat sampling. However, the percentage of improper sampling was reduced by about 58% in the second phase. This could be accomplished by providing repeated training to the residents and nursing professionals for sampling. It is of utmost importance to ensure proper sampling because the response to recall for repeat sample was found to be very poor in both the phases of comparison. Parents were tried to be contacted over phone, but many times the contact number was not proper or the number was not attended. If at all contacted, the parents would give consent for sampling during the first immunization schedule, but they did not turn up. On the other way round, some parents were so concerned that they ask for duplicate sampling during their first immunization schedule, even if the first test was normal.
A total of 11 (2.4%) samples reflected raised TSH values. Of these, 6 cases had a history of intrauterine growth retardation, 3 were preterm, 8 babies were low birth weight, and in 4 cases, mother had thyroid dysfunction. One baby (0.2%) was confirmed for the CH with increased trapping function of the thyroid gland due to raised TSH as detected by 99Tc pertechnetate thyroid scan. Kapil et al. in their study reported an incidence of 1 in 23 (4.4%) in 613 babies screened in Kangra valley, Himachal Pradesh. Sanghvi and Diwakar in Chandigarh and Shriraam et al. in Tamil Nadu, in their studies, had published an incidence of CH of 1:500 (0.2%) and 1:900 (0.1%), respectively.,
G6PD deficiency was detected in 5% (n = 24) of the population in the initial screening. However, only four (0.9%) got confirmed. All the affected babies were male. Two babies had hyperbilirubinemia during the stay. The babies were re-confirmed for G6PD deficiency after 1 month, during the immunization visit. Kaur et al. had revealed 0.8% prevalence in 6813 babies screened in Chandigarh. On the other hand, an incidence of 16.7% was reported by Mohanty et al. in 191 babies screened in Orissa. The low prevalence of G6PD observed in our study could be attributed to the low influx of tribal families to our tertiary care center and the prevalence of G6PD deficiency is known for its prevalence in the tribal community.
The response to recall for confirmatory tests was 50 times more in the second phase of the study. Repeated telephonic conversation and counseling played a key role for the recall response. It was made a mandatory to visit the pediatrician during the first immunization schedule so that they can be counseled for NBS if they did not have the report.
During the later stage of the study period, a 7-month child in the OPD (delivered in our institute) was diagnosed with CH with features of delayed milestone and lethargy. The case could have been diagnosed early provided the parents would have given consent for the NBS when asked for consent.
Strengths and limitations
For the first time, a study was conducted on laboratory screening of newborns for CH and G6PD deficiency in a government hospital in this state. Our institute is the first government institute to provide laboratory diagnostic facility for newborn screening in the state. The major limitation of the study is the low sample size. However, 1 case of CH in 462 reflects a very high incidence which cannot be ignored. The toll could have been more provided there was a better response by parents for confirmatory tests and re-sampling. A high rate of improper sampling and incorrect contact number had also influenced the evaluation of NBS program.
Interpretation and implication
The study was first of its kind in assessing the burden of CH and G6PD deficiency in the area. Although the diagnostic facilities are available in a few private laboratories, this is a step forward to provide the state-of-art facility in laboratory testing to the people of Chhattisgarh, at a minimal cost. The patient will be directly benefitted as the treatment and management can be started at an earlier stage for the patient.
There are no controversies except that the incidence of G6PD deficiency in newborns was very low (0.9%). This could be ascribed to the fact that the study population consisted of institutional deliveries and those attending OPD. As per the study on district-wise distribution of G6PD deficiency in different states, the prevalence in the tribal population ranged from 10% to 20%. Being in the urban locality, the tribal inflow to the hospital is not enough to predict a high incidence of the disorder.
Large-scale studies or task force projects, including various urban and rural hospitals and primary health-care centers, in different districts of the state, can be endorsed for mapping of the actual burden of inborn born errors of metabolism with more parameters.
| Conclusion|| |
Development of expansion of NBS program in the state should be made mandatory for all newborns. The recommendations include awareness among parents, during antenatal and postnatal period and also to health professionals and provision for laboratory facilities for NBS testing at low cost.
Financial support and sponsorship
This study was financially supported by the All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.
Conflicts of interest
There are no conflicts of interest.
| References|| |
Mann S. Insight in public health: Newborn screening saves babies using public/private partnerships. Hawaii J Med Pulic Health 2015;74:414-8.
Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Newborn screening: Need of the hour in India. Indian J Pediatr 2015;82:61-70.
Kaur G, Thakur K, Kataria S, Singh TR, Chavan BS, Kaur G, et al
. Current and future perspective of newborn screening: An Indian scenario. J Pediatr Endocrinol Metab 2016;29:5-13.
Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis 2006;29:390-6.
Pitt JJ. Newborn screening. Clin Biochem Rev 2010;31:57-68.
Sanghvi U, Diwakar KK. Universal newborn screening for congenital hypothyroidism. Indian Pediatr 2008;45:331-2.
Mukherjee MB, Colah RB, Martin S, Ghosh K. Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India – Country scenario. Indian J Med Res 2015;141:516-20.
] [Full text]
Davis TC, Humiston SG, Arnold CL, Bocchini JA Jr., Bass PF 3rd
, Kennen EM, et al
. Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics 2006;117:S326-40.
Kapil U, Jain V, Kabra M, Pandey RM, Sareen N, Khenduja P. Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh. Eur J Clin Nutr 2014;68:748-9.
Shriraam V, Mahadevan S, Anitharani M, Selvavinayagam , Sathiyasekaran B. National health programs in the field of endocrinology and metabolism – Miles to go. Indian J Endocrinol Metab 2014;18:7-12.
Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, et al
. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: A Chandigarh experience. Indian J Pediatr 2010;77:969-73.
Mohanty D, Mukherjee MB, Colah RB. Glucose-6-phosphate dehydrogenase deficiency in India. Indian J Pediatr 2004;71:525-9.