Birth defects reporting and surveillance in India: a narrative review

Abstract

Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these disorders. The objective of this narrative review was to document the birth defects surveillance/reporting systems in India, their current status, structures and reporting formats. The review used empirical analysis of retrieved literature to answer the framed research questions. Publications on birth defects surveillance in India was negligible. Website searches yielded information on two surveillance systems. The WHO South East Asia Region-Newborn-Birth Defects (SEAR-NBBD) surveillance for congenital disorders uses a non-representative sample of hospitals to conduct passive surveillance for eight congenital anomalies. The system has a hierarchy of quality control measures to assure data accuracy. The second system is a child screening and early intervention service (the Rashtriya Bal Swasthya Karyakram, RBSK), which reports data on nine birth defects among children screened at birth, in the first six weeks of life, and till 18 years of age. The RBSK uses existing community-based staff and competency-appropriate screening tools that incorporate defined referral routes to secondary or tertiary level of care. Data from neither of these systems is available in the public domain. The review identified that the strengths and weaknesses of both these systems can be utilized to put in place a potentially sustainable sentinel surveillance for monitoring birth defects in India.

Birth defects surveillance

Birth defects (also referred to as congenital anomalies and congenital disorders) (Perin et al. 2023) are maternal and child health complications, that are of prenatal origin, and that disrupt typical foetal development, resulting in structural or functional aberrations. The complications may be detected before birth (congenital malformation), at birth or in early childhood. Congenital disorders consist of diverse, low prevalent disorders. Some conditions, such as congenital heart defects, clubfoot (congenital talipes equinovarus), neural tube defects like anencephaly and spina bifida, orofacial clefts and Down syndrome are commonly encountered in clinical and community settings. Birth defects have varied aetiology. They are caused by gene-environmental, and genetic factors. In low and middle income countries (LMICs), post-conception teratogenic exposures such as congenital infection syndromes caused by viruses like rubella and Zika are additional causes of birth defects. In regions where it is practiced, consanguinity remains a major risk factor for congenital anomalies (Sheridan et al. 2013). The aetiology of most birth defects are however unknown.

Till recently, birth defects have received little attention as maternal and child health issues in LMICs, as they are not leading causes of child mortality. The need for significant resource investments for surgical and other medical services, the necessity to develop health service capacity for screening and management, and the absence of primary preventive measures, have resulted in slow development of services. Essential public health measures like birth defects surveillance are not in place, or are not optimally functional in most LMICs. Surveillance remains an important health service activity, as epidemiological data is the cornerstone for making the argument for implementation of services.

The need to focus attention on birth defects in LMICs comes from data indicating that over time, the proportion of mortality attributable to congenital anomalies has increased from 4.4 to 7.4% during 2000 to 2019 (Perin et al. 2023). Similar trends have been witnessed in India. There have been significant declines in common causes of child mortality in the country from 2000 to 2017 (Dandona et al. 2020). The reduction in mortality was 82% for measles, 69% for diarrhoeal diseases, 57% for lower respiratory tract infections, but only 15% birth defects (Dandona et al. 2020). The differences in the rate of decline in congenital anomalies vis-à-vis other common conditions is reflected in an increase in the the proportion of mortality caused by birth defects. The proportionate mortality attributable to birth defects increased from 4% in 1990 to 7.9% in 2017 (Ujagare and Kar 2021). A systematic review and meta-analysis estimated a birth prevalence of 184.48 per 10 000 births (95% CI 164.74–204.21). This data implied 472,177 (421 652 to 522 676) anomaly affected births in India in 2016 (Bhide and Kar 2018). The potential magnitude of birth defects in India is evident in some key demographic indicators of the country (Table 1).

Table 1.

Essential demographic and health service data

	India (%)	Data source
World Bank categorization
Geographical size	3.3 million sq km	(National Portal of India, https://www.india.gov.in/india-glance/profile)
Annual births
Neonatal mortality rate	20 per 1000 live births	(Department of Health and Family Welfare Annual Report 2022-23)
Infant mortality rate	28 per 1000 live births
Under-five mortality rate	32 per 1000 live births
Life-expectancy at birth	69.7 years
Facility deliveries	89	(International Institute for Population Sciences, 2020)
Deliveries at government hospitals	62
Deliveries at private hospitals	26
Home delivery	11
4 or more antenatal check-up (ANC)	58
Ultrasound scan among women with at least one ANC visit	78
Births attended by qualified doctor	62
Nurse, midwife, paramedic	27
Check up from trained provider within 2 days of birth	82

In this scenario, birth defects surveillance becomes essential to determine the epidemiology and trends of common disorders, for determining resource needs, for developing policies for prevention, and for designing an equitable and sustainable service (Melo, Sanseverino, Schmalfuss and Larrandaburu 2021). Birth defects surveillance was implemented in high-income countries after the spate of severe birth defects associated with exposure to the drug thalidomide during early gestation. A similar stimulus was not experienced in India, where prior to licensing in 2002, only limited amounts of thalidomide entered the country for treatment of erythematous nodosum leprosy (Wimmelbücker and Kar 2023).

Birth defects surveillance in LMICs

Birth defects registries collate data on these disorders, while routine surveillance alerts health systems about potential teratogenic exposures. Globally, established networks of hospital- and population-based birth defects registries report the prevalence, types and trends of congenital anomalies, monitor outbreaks and identify teratogenic exposures. Registries in LMICs including India have additional data needs. As most LMICs are yet to reach universal health coverage, data on the population-prevalence of congenital disorders is imperative to monitor diagnosis, access to care, health and social outcomes of children with congenital disorders and disabilities, and for determining the impact of implemented interventions.

Establishing birth defects surveillance in many LMICs including India also requires careful consideration of methodological issues. Health system include both government and private hospitals, but hospital lists for drawing a random sample of participating hospitals may not be easily available, so that drawing a representative sample of hospitals is particularly challenging (Dharmarajan et al. 2024). Poorly defined hospital catchment areas is another methodological issue, which makes it difficult to define population denominators and calculate rates (World Health Organization 2020).

With this background, the objective of this narrative review was to examine the existing birth defects surveillance or data reporting systems in India, their characteristics in terms of screening methods, data collection structures and variables, training for birth defects surveillance, data reporting formats and data reporting.

Methods

A search of PubMed and Google Scholar databases was undertaken by the author in June 2024 using the terms [“birth defects” OR “congenital”] OR [“RBSK” OR “Rashtriya Bal Swasthya Karyakram”] AND [“surveillance” AND “India”] in order to retrieve research studies published in the English language from 2010 till June 2024. We used PubMed and Google Scholar as these two search engines yielded most publications on birth defects from India (Dharmarajan et al. 2024). We included a search of websites in the review. The website of the Southeast Asia Regional (SEAR) Office of the World Health Organization (WHO) New-born and Birth Defects (SEAR-NBBD) Surveillance (Regional Office of South East Asia SEAR-NBDD Newborn and Birth Defects website) and the website of the Reproductive, Maternal, Newborn, Child, Adolescent plus Nutrition (RMNCHA + N) programme of the Ministry of Health and Family Welfare (National Health Mission RMNCAH + N website) was searched for reports and resource materials. Title and abstracts of retrieved articles and reports were empirically analysed, keeping in mind the questions posed for the review. The framework shown in Table 2 was constructed, and data was extracted manually from the shortlisted publications or website information included in the study.

Table 2.

Characteristics of birth defects surveillance/reporting systems in India

Year of establishment	SEAR-NBBD1	RBSK2
	2014	2013
Type of surveillance	Hospital-based	At health facilities where deliveries occur	Community (home) based reporting	Screening at preschools and schools
Goals	Hospital based surveillance to understand the public health burden and to design prevention and management programmes	“a systemic approach of early identification and link to care, support and treatment”
Objectives	(1) To define the magnitude and distribution of birth defects by time, person and place (2) To identify high-risk populations or identify clusters (aggregation of cases) (3) To refer affected infants to appropriate services in a timely manner (4) To monitor trends in the prevalence of different types of birth defects in a defined population	Facility based newborn screening at public health facilities	Community based newborn screening at home during home visitation	Screening of children from 6 weeks to 18 years
Inclusion criteria	Hospital births	Newborns at health facilities	Newborns at home after 48 h of birth and till 6 weeks of age	For 6 weeks to 18 years bi-annual preschool (Anganwadi Center) based screening, Annual screening for 6 to 18 years attending Government schools
Target conditions	neural tube defects	neural tube defects
	Down syndrome(O)	Down syndrome
	orofacial clefts: cleft lip/cleft palate	cleft lip and palate/cleft palate alone
	talipes equinovarus – club foot	talipes
		developmental dysplasia of the hip
		congenital cataract
		congenital deafness
	congenital heart disease (O)	congenital heart diseases
		retinopathy of prematurity
	limb reduction defects	not be limited to the above mentioned conditions
	hypospadias
	exomphalos / omphalocele, gastroschisis
	imperforate anus
	congenital diaphragmatic hernia, (O)
	tracheoesophageal fistula (O)
	exstrophy of bladder (O)
	other major and minor defects not to be reported
Personnel involved in the surveillance	Data reporters; hospital nodal person (verifier 1); Country-level (verifier 2),WHO-SEARO overall responsibility for monitoring, analysis, feedback	ANM/ Staff Nurses/ Medical officers at all delivery points,	Community health (ASHA) workers for newborns 48 h after birth till 6 weeks of age	Mobile Health Teams (2 Ayush doctors, nurse midwives and pharmacists)
Training	Training workshops for hospital staff involved in the surveillance	Training for nurse midwives, ASHA, 5 day training for Mobile health teams, training manual for in-field support during screening activities
Case ascertainment	Thorough head-to-toe clinical examination of head, face, ears, back, abdomen, pelvis, limbs, genitals and anus	Check for vital signs, followed by head-to-toe physical examination;	Information on caregiver concerns, followed by referral for further evaluation	Recording form for documenting nine specific birth defects
Data abstraction form	Data from case sheets, photographs, any confirmatory tests	A special recording form (Screening cum reporting form for Birth Defects), with a pictorial depiction of a child wherein the defect identified has to be ticked and the affected area is to be encircled/ticked.
Coding	Most appropriate description to be marked from the pre-coded pull-down menu, or from an Atlas of photographs	Coding instructions are included
Variables	Basic information of parents, parental consanguinity, Delivery details, Baby details, history of termination of pregnancy for foetal malformation/ previous birth defect/ stillbirth/ present pregnancy, types of birth defects, additional investigations, photograph	Location of reporting, time (i.e. age at ) of reporting, delivery outcome details, parental consanguinity, maternal risk factors, antenatal details, head circumference, birth defects single/multiple, history of termination of pregnancy for foetal malformation/ previous birth defect/ stillbirth/ present pregnancy, Type & Site Description of the anomaly Age at diagnosis Code- ICD10 Confirmed or suspected
Quality assurance mechanisms	Hospital nodal person (completeness, accuracy, timeliness)	Medical officer, block and district health officer, state RBSK manager and national RBSK programme manager
Data reporting mode	Through online birth defects reporting form	Cumulative numbers are to be submitted monthly to the National RBSK unit by the 10th of each month
Data quality checks	Assessment form for data quality checks	Not stated
Data reported to	WHO-SEARO	National RBSK unit of the MOHFW are to be shared with the National RBSK unit of MOHFW
Linkage with any other national system	No, stand-alone	Linked to Mother Child Tracking System, data also noted in the labour room/delivery point and other registers
Assuring care	Responsibility with the hospital to refer for necessary management	Individual recording formats are to be shared with the DEIC Manager who is responsible for ensuring evaluation, referral and follow up of cases.

¹ World Health Organization 2016

² Rashtriya Bal Swasthya Karyakram 2013

Terminology

There have been several discussions on the need for defined terminologies in the field of congenital disorders (World Health Organization 2006; Malherbe et al. 2023). As explained below, for the purpose of this review, we have used the terms that have been used by the authors of the included studies.

Results

Surveillance and reporting systems

The search yielded a single research publication relating to birth defects surveillance in India (Velayudhan et al. ) and a book chapter (Bhide, 2021). The website search identified two surveillance systems, which was used to describe the characteristics of the surveillance /reporting systems in India.

The WHO SEAR-NBBD registry (Regional Office of South East Asia SEAR-NBDD Newborn and Birth Defects website) is a passive surveillance system established in 2014 (World Health Organization 2016). It is an integrated data system to monitor newborn morbidity and mortality, stillbirths and birth defects among live births and stillbirths in hospital settings with the objective of understanding “the public health burden and to design prevention and management programmes in the country” (Table 2). The SEAR-NBBD uses the term ‘birth defects’ in its documents.

A government child screening and early intervention programme, the Rashtriya Bal Swasthya Karyakram (RBSK) (Ministry of Health & Family Welfare 2013; Singh, Kumar, Mishra, Khera and Srivastava, 2015) reports data on birth defects from across the country. The goal of this programme is not stated to be surveillance, but “a systemic approach of early identification and link to care, support and treatment” for children with nine selected congenital disorders (Ministry of Health & Family Welfare,2013).The service collects data on birth defects among newborns screened at delivery points (community level health centres, rural, sub-district, district hospitals) (Rashtriya Bal Swasthya Karyakram, 2016), among newborns 48 h of birth till 6 weeks of age during home visits by community health worker (Accredited Social Health Activist, ASHA) (Rashtriya Bal Swasthya Karyakram undated a), and among children attending preschools (6 weeks to 6 years) and schools (6–18 years) (Rashtriya Bal Swasthya Karyakram, 2014a, b) (Table 1). The RBSK uses the term ‘birth defects’ in its documents.

A third system was also identified. The Birth Defects Registry of India (BDRI), a passive surveillance was established in 2001. In 2016, it included 750 reporting hospitals (Velayudhan et al. 2021). Updated records or information regarding this surveillance could not be identified.

Target conditions

The SEAR-NBBD enlists newborn screening for eight conditions and six optional birth defects. The RBSK screening enlisted nine target conditions, and three additional conditions in areas of high prevalence. The RBSK advises that any other condition must also be reported (Table 2).

Participating hospitals, staff, training

In 2020, there were 70 non-randomly selected hospitals with high delivery load registered in the SEAR-NBBD surveillance system, but the need for geographic representation of participating hospitals was pointed out (World Health Organization 2020). In contrast the RBSK was voluminous in its activity, covering over 25 000 delivery points across the country, and using 11,200 mobile health teams for screening children at preschools and schools across the country (Ministry of Health and Family Welfare, 2023). Data reporters of the SEAR-NBDD surveillance included doctors (paediatricians/neonatologists/gynaecologists), nurses and data operators who underwent a structured training session (World Health Organization, 2016). Staff involved in the RBSK included nurse-midwives and doctors at health facilities in the community, and in case of the mobile health teams, Ayurvedic doctors (traditional practitioners, not of modern medicine background) and pharmacists. All staff were provided training and supported with a training manual and job-aid card for conducting screening in the community settings (Rashtriya Bal Swasthya Karyakram, 2014a, b, undated a). In contrast to the screening that was conducted by generalists, children referred for further care to secondary and tertiary level of care, including the District Early Intervention Centres were managed by specialists.

Case ascertainment, data abstraction, coding, variables

In both the systems, case ascertainment was through head-to-toe physical examination. In the hospital-based setting of the SEAR-NBBD, newborn screening was conducted by paediatricians/obstetricians or nurses present in the delivery area, postnatal wards and neonatal/paediatric units (World Health Organization, 2016). Data abstracted from case sheets, supported with photographs and confirmatory test reports, were to be supported through an online system. Coding is facilitated by a pull-down menu of pre-coded anomalies, and further assisted with an in-built atlas of photographs.

In contrast, the RBSK has a screening-cum-reporting form, which is appropriately modified for non-specialists like nurse-midwives at delivery points in community settings (Rashtriya Bal Swasthya Karyakram 2016, undated b). It has simple questions to suspect specific birth defects, and includes an outline of a child with instructions to mark the affected anatomical structure (Rashtriya Bal Swasthya Karyakram, 2016). In addition to the birth defect, both SEAR-NBBD and the RBSK systems report basic case information, maternal history and obstetric history, and information about the baby/child.

Data reporting method and quality assurance

The SEAR-NBBD has an online reporting system, with a high focus on data quality. All persons involved with the surveillance are provided training on coding for birth defects. There is a defined hierarchy of ensuring data quality submitted by data reporters, which is verified by hospital nodal person, country coordinator and finally the WHO-SEAR office which has the overall responsibility for monitoring, analysis, and providing feedback (Table 2). For the RBSK, printed screening cum reporting formats are submitted monthly from community centres, through administrative blocks, district office, to state and finally national RBSK office.

Data linkages

The SEAR-NBBD is a stand-alone system, but its possibility of being incorporated in the maternal and child health information system in India is evidenced from a recent guideline instructing that the birth defects surveillance system is to be utilized to report stillbirths (Child Health Division 2016). In contrast, the RBSK is an ongoing component of the maternal and child health service, with each record being linked to the Mother and Child Tracking System, as well as routine labour room/delivery point registers. Records are also shared with the District Early Intervention Centre to facilitate care.

Data availability

Disaggregated data on prevalence and types of disorders was not available in the public domain from both these systems. In 2020, the SEAR-NBBD participating hospitals in India had reported a total of 1,545,258 births and 18,006 birth defects (1.16%) (World Health Organization 2016). The RBSK data on birth defects is not public, but the magnitude of this service is reflected in that the RBSK screened 157.36 million children between 2013 and 2023 (Ministry of Health and Family Welfare 2023). Data from the pre-COVID period of 2018–2020 reported that 21 616 283 newborns, 182 073 358 children 6 weeks to 6 years, and 196 040 979 children 6 to 18 years were screened (Kumar and Anupama 2022).

Discussion

This literature review aimed at identifying the birth defects surveillance/reporting systems in India, the characteristics of the surveillance including target conditions, method of data collection/abstraction, training, data reporting formats and quality measures, and where the data was reported. The review identified a single birth defects surveillance system, established by the WHO SEAR office, in response to the WHA call for birth defects surveillance (World Health Assembly 2010). Developed in collaboration with the Centres for Disease Prevention and Control, the SEAR-NBBD reflected its strengths in a systematic organization, focus on data quality, including training on coding for birth defects. The major limitations were lack of representativeness of the participating hospitals, limited geographical outreach and the limitations in quality, completeness and timeliness of reporting the data, contributed to by lack of funding, a dedicated data manager, and repeated staff turnovers (World Health Organization 2020). The essential list of conditions included in the surveillance was not appropriate for informing public health activities, as for example, congenital heart defects, the most prevalent birth defect was listed as an optional, rather than an essential condition in the system.

In contrast, the RBSK reported country-wide data on birth defects through its community-based screening and early intervention service, but did not identify itself as a surveillance system. The potential strengths of the RBSK for birth defects surveillance was its reach to communities across the country, screening children from these settings using situationally appropriate screening tools, and the fact that it was an existing public health programme, reporting data to routine health information systems. The downside of the RBSK was the magnitude of the service, which would likely compromise the quality of the data.

It should be noted that in addition to these surveillance systems, there is sentinel surveillance for monitoring rubella and syphilis infection during pregnancy in India. Modelled estimates suggested 72,000 pregnant women with rubella infection and 14,520 infants with congenital rubella syndrome in India (Shanmugasundaram et al. 2021). The UNAIDS data on elimination of mother-to-child transmission of syphilis reported a rate of 62 cases of congenital syphilis per 100,000 live births in India in 2017 (UNAIDS 2021). There are guidelines for surveillance for Zika virus and Congenital Zika Syndrome. A dashboard for reporting data on the results of screening for sickle cell disease has been established (National Sickle Cell Anaemia Elimination Mission website). Data from these surveillance systems can add to information on birth defects in India.

From the review, it appeared that a significant amount of ground work for establishing a birth defects surveillance system has already been achieved in India, and that the elements of an appropriate birth defects surveillance system that addresses the data and methodological issues mentioned above appear to be in place. The strengths of the RBSK that is, its country- and community-wide reach, competency-appropriate screening tools that permitted data collection from community settings, and the capacity to provide data on birth and population prevalence of congenital disorders, can be combined with the data quality assurance mechanisms of the SEAR-NBBD to provide a LMIC-appropriate model for birth defects surveillance. A random sample of sentinel surveillance sites can be selected from the available RBSK service points. It could include regions with potential teratogenic exposures, for example, agricultural and industrial areas and areas reporting diseases caused by viruses with teratogenic potential.

Limitations

Like narrative reviews, this study had a number of limitations. The first limitation was the difficulty in ensuring that all literature has been reviewed. The review was also was predominantly based on published reports, as there were few peer-reviewed publications. The review was dependent on using only two search engines. Being literature based, the review may have missed surveillance systems that may be operational but have not published their results. One of the biggest challenges was in understanding the current status of the surveillance, as updated data was not available in the public domain.

In conclusion, the review identifies an interesting model for birth defects surveillance for resource-limited settings. The review identified that establishing screening for congenital disorders from community and hospital-based facilities, using competency-specific data collection tools that can be used by community-level non-specialists, incorporating data quality assurance measures, incorporating referral routes to services, and data reporting to routine health information systems may be one of the models for birth defects surveillance for LMICs.

Author contributions

Anita Kar conceived the review, conducted the literature search, analysed the data and wrote the manuscript.

Funding

No funding was received for this study.

Data availability

No datasets were generated or analysed during the current study.

Declarations

Competing interests

The author is a member of a non-remunerative WHO-expert consultation for development of a generic model for birth defects screening and management.