Related Experiment Video
Updated: Feb 13, 2026
Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia
Insights
Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia is feasible in India, with prevalence rates of 1 in 722 for CH and 1 in 5762 for CAH. This study supports a national newborn screening program to reduce infant morbidity and mortality.
Area of Science:
- Medical Genetics
- Neonatology
- Public Health
Background:
- Congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are key disorders in newborn screening programs.
- Challenges in executing newborn screening programs in India require evaluation.
- Assessing the feasibility of newborn screening across diverse geo-ethnic regions in India is crucial.
Purpose of the Study:
- To determine the prevalence of CH and CAH in India.
- To evaluate the challenges and feasibility of implementing a national newborn screening program.
- To assess newborn screening across different geo-ethnic regions of India.
Main Methods:
- A uniform protocol was used to screen 100,000 neonates across five metropolitan centers and their associated urban and rural sites.
- Heel prick samples were collected after 24 hours of age to screen for CH and CAH.
- Feasibility indicators included disease prevalence, birth coverage, turnaround time, recall rate, and follow-up, with participation in the NSQAP.
Main Results:
- Out of 143,344 eligible neonates, 104,094 (73.2%) were screened.
- The overall prevalence of CH was 1 in 722 births (1:1130 excluding transient cases).
- The prevalence of CAH was 1 in 5762, with significant regional variations.
Conclusions:
- A collaborative network of laboratories and scientists can successfully implement newborn screening.
- Newborn screening has the potential to significantly reduce infant morbidity and mortality in India.
- Immediate implementation of a national newborn screening program is recommended.
Objective:
The Task Force formed by ICMR aimed at studying the prevalence of congenital hypothyroidism and congenital adrenal hyperplasia, the template disorders included in all newborn screening programs, and to evaluate the unidentified challenges in its execution in health care services. It also intended to evaluate the feasibility of newborn screening with regards to different geo-ethnic regions from India.
Methods:
Five metropolitan centers identified had further 2 to 11 centers; both the urban and the rural sectors were included and were considered representative of the northern, southern, eastern, western and central parts of the country. A uniform protocol was developed to screen 100,000 neonates (20,000 from each center) beyond 34 wk of gestation for congenital hypothyroidism and congenital adrenal hyperplasia. Samples were collected by heel prick after 24 h of age. The parameters studied were prevalence of these diseases, percentage births covered, the turnaround time, recall rate and follow up of identified neonates as feasibility indicators. All centers participated in the Newborn Screening Quality Assurance Programme (NSQAP), of CDC, Atlanta, USA.
Results:
In the participating hospitals attached to the centers, 151,765 babies were intramural births. Of these 143,344 (94.5%) babies were eligible for screening. Amongst these births, a sample of 104,094 (73.2%) babies could be covered by the personnel. Overall prevalence of congenital hypothyroidism (CH) was 1 in 722 births; if babies with transient hypothyroidisms were excluded the prevalence was calculated to be 1:1130. The collective prevalence of congenital adrenal hyperplasia was 1 in 5762 with marked regional differences.
Conclusions:
This collaborative study has demonstrated the feasibility of establishing a network of committed laboratories and scientists for executing newborn screening. This is expected to have a potential impact on morbidity and mortality and therefore this should be immediately taken up in a national newborn screening program.
Related Concept Videos
01:17Anatomy of the Adrenal Glands
These glands possess a distinctive yellow tinge due to the stored cholesterol and fatty acids required for hormone synthesis. They are encased in a fibrous capsule and cushioned by fat.
The adrenal gland comprises two distinct...
01:27Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
01:31Hormones of the Adrenal Glands
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
01:27Sympathetic Pathways: Collateral Ganglia and Adrenal Medulla
Collateral Ganglia
Sympathetic preganglionic axons reach the collateral ganglia along the route of splanchnic nerves. These nerves bypass the sympathetic trunk and communicate with sympathetic postganglionic neurons housed in the prevertebral ganglia. These ganglia supply the organs of the abdominopelvic cavity.
The greater splanchnic nerve, formed by the...
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
01:37Hypothalamic-Pituitary Axis