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Year : 2018  |  Volume : 62  |  Issue : 3  |  Page : 188-192  

Incidence of congenital anomalies in a rural population of Jammu - A prospective study

1 Senior Resident Post Graduate, Department of Community Medicine, Government Medical College, Jammu, Jammu and Kashmir, India
2 Professor and Head, Department of Community Medicine, Government Medical College, Jammu, Jammu and Kashmir, India
3 Professor, Department of Surgery, Government Medical College, Jammu, Jammu and Kashmir, India

Date of Web Publication12-Sep-2018

Correspondence Address:
Dinesh Kumar
Department of Community Medicine, Government Medical College, Jammu, Jammu and Kashmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijph.IJPH_77_17

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Background: Congenital anomalies (CAs) are a major cause of stillbirths and neonatal mortality in India. Its magnitude and pattern reportedly vary over time and across geographical locations. Objectives: The objective of the study is to estimate the incidence of CAs in community development block RS Pura of District Jammu. Methods: The present study is a community-based prospective study. The field workers were trained with the help of “Birth Defect Surveillance” Atlas issued by WHO and ICBDMS (International Clearinghouse for Birth Defects Monitoring Systems) 2014. Pregnant women (registered or unregistered) with all health institutions in RS Pura Block on or after April 1, 2014, were followed till September 2015 for the ascertainment of CAs. All CAs detected during antenatal period (by ultrasonography), after delivery and abortion at any site were counted as events and classified by organ system according to the 10th version of the WHO International Classification of Diseases-10. Results: A total of 1670 mothers were followed till their pregnancy outcome was recorded. Among 1600 live births recorded, 54 babies had CAs resulting in the incidence rate of 33.7/1000 live births. The incidence rate was comparatively higher among women aged <20 years (71.4/1000 live births) and with Para 4 (43.5/1000 live births) as compared to other women. Digestive system was the most common system involved (35%) followed by the Central nervous system (26.6%). The U-shaped pattern in the incidence of CAs with regards to parity and maternal age was observed. Conclusion: The study demonstrated that the CAs continue to occur in Jammu at a similar magnitude as reported from other parts of the country.

Keywords: Community-based study, congenital anomalies, Incidence, Jammu, RS Pura block

How to cite this article:
Ara A, Kumar D, Dewan D, Digra NC. Incidence of congenital anomalies in a rural population of Jammu - A prospective study. Indian J Public Health 2018;62:188-92

How to cite this URL:
Ara A, Kumar D, Dewan D, Digra NC. Incidence of congenital anomalies in a rural population of Jammu - A prospective study. Indian J Public Health [serial online] 2018 [cited 2022 Dec 3];62:188-92. Available from:

   Introduction Top

Medical fraternity and society attach lot of value to congenital anomalies (CAs) for multifarious reasons. One, CAs are a significant challenge to bring further reductions in neonatal mortality. Two, long-term care of survivors demand huge resources and societal support. Therefore, it is important that the burden of CAs is reflected appropriately and accurately.

CAs contribute to a significant proportion of fetal and infant mortality.[1] Various sources estimate the prevalence of CAs to be in the range of 1%–3% of all live-born infants and the estimates are considerably higher for the infants that are stillborn or spontaneously aborted.[1] Unfortunately, we do not have complete data about CAs.

Older women, women with medical conditions such as hypothyroidism, uncontrolled diabetes, placental insufficiency, multiple pregnancy, and oligohydramnios have a higher risk of major CAs than that of the general population.[2],[3] The present study thus endeavors to estimate the burden of CAs from community so that the information can be used to prioritize resources for prevention and control.

   Materials and Methods Top

This community-based prospective study was conducted in the community development block RS Pura which is the field practice area of the Department of Community Medicine, Government Medical College (GMC) Jammu. The block comprises of 196 villages having total population of 190,567 (Census 2011). However, the actual population under surveillance for the current study was 150,000. The rest of the population being residents of border and adjoining areas had to constantly migrate to nearby areas due to cross-border shelling. Therefore, this population was not available for continuous surveillance. After obtaining approval from Institutional Ethical Committee GMC Jammu, the investigator held preliminary meetings with Block medical officer of Community Health Centre (CHC) RS Pura and medical officer incharge of all primary health centers to solicit their support. Separate meetings were also held with all multipurpose workers and Accredited Social Health Activists at zonal headquarters on a day convenient to the Zonal Medical Officer. The field workers were sensitized and trained during these meetings with the help of “Birth Defect Surveillance”  Atlas More Details issued by the WHO and ICBDMS 2014 so that the workers could identify and report all CAs to the investigator.[4] Further, separate training sessions were held with the dedicated staff (42 workers and supervisors) working for community-based Phase III Rotavirus vaccine trial in the study area. The dedicated workers were requested to inform the investigator about any child suspected of CA.

Study participants and event of interest

Pregnant women (registered or unregistered) with all health institutions in RS Pura Block on or after April 1, 2014, were the potential population for ascertainment of CAs and therefore formed the denominator population for surveillance of CAs. All CAs detected during the antenatal period by ultrasonography (USG), after delivery and abortion at any site were counted as events. The investigator prepared the list of all potential participants by scrutinizing all mother and child tracking registers maintained by the health staff. The field workers were requested to follow-up all such pregnant women registered with respective institutions as well as unregistered cases by making fortnightly household visits with effective from April 2014–September 2015. The study period included antenatal period as well as 5 months after delivery to detect any CA occurring during that period. The period of study in total was 17 months keeping feasibility and resources in hand. An attempt was made to capture all CAs occurring during this period. Written, signed, and dated informed consent was taken from every participant before collecting any information. They were also requested to enquire whether any pregnant woman has undergone USG or any other radiological investigation to ascertain whether she was diagnosed with any CA on making a home visit. The workers were advised to keep the detailed address and phone numbers of such women with them so that such women were traced and followed up later by the investigator.

The investigator also scrutinized the mother and child health registers and other documents to track pregnant women at CHC RS Pura, private diagnostic centers, nursing homes and referral centers such as Government Hospital Gandhi Nagar and SMGS Hospital. All local gynecologists, ultrasonologists, and pediatricians were requested to intimate any referral made from RS Pura to GMC Jammu/SMGS Hospital/Military Hospital. They were requested to keep the record so that no case of CA is missed. The investigator made weekly contacts to these institutions during the study. The investigator kept contact with all the women referred from such institutions and visited the household of such subjects or the place of referral to collect evidence about the CA if so identified. The field workers were regularly contacted to obtain records of abortions and stillbirths.

The information obtained was recorded on a predesigned pro forma and included sociodemographic information, obstetrical history, and exposure to any risk factors, history regarding any chronic illness in the mother and family history. History, examination, and USG findings were documented in detail. The population was kept under constant surveillance till the end of the study to capture CAs manifesting later.

All CAs were recorded and classified by organ system according to the 10th version of the WHO International Classification of Diseases (ICD-10).[5] Where multiple malformations of a system were detected, each was counted as a separate malformation.

Analysis of data

Data were analyzed using computer software MS Excel and Epi info. The patient's characteristics were reported as percentages or mean ± standard deviation (SD) as deemed appropriate. The magnitude was reported as cumulative incidence along with using Robert G Newcombe Method.[6]

   Results Top

A total of 1799 antenatal women (both registered as well as unregistered) in CHC RS Pura and other institutions were potential participants in the study, out of which 1670 women were followed till the outcome. Thirty women had abortions and 40 others delivered stillborn babies. Abortions and stillbirths could not be further investigated to rule out presence/absence of CAs because of limited resources and facilities to conduct such investigations in community-based settings. The age range of the study population was 18–42 years with mean age ±SD as 25 ± 3.5 years. About 6.6% of women, were either aged <20 years or above 34 years. The majority of the pregnant women were Hindus (90.0%) followed by Sikhs (7.2%) and Muslims (2.7%). Maximum women were Para I followed by Para II (52.0% and 33.5%, respectively). Para IV women contributed only 3% of the sample [Table 1]. Nearly 30% of women registered delivered in CHC RS Pura while the rest deliveries were conducted in referral institutions. Out of 1600 live births, 939 (58.6%) were males and 661 (41.4%) were females, with male to female as 1000:703. A total of 54 children (32 males and 22 females) had CAs resulting in an incidence of 33.7/1000 live births. The overall incidence of CAs in males was slightly higher than in females, i.e., 34.1/1000 live births versus 33.3/1000 live births. Forty-eight newborns (30/1000 live births) had single CAs while 6 newborns (3.8/1000 live births) were having multiple CAs. Thus, a total of 60 CAs were detected.
Table 1: Distribution of total women according to sociodemographic characteristics and obstetrical history

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Maximum incidence of CAs was observed in Muslims (156.2/1000 live births). Comparatively higher incidence of CAs was reported in younger women <20 years (70.7/1000 live births) and women >30 years (61.2/1000 live births) [Table 2]. Among 54 newborns with CAs, mothers of two children were diabetic, ten had a history of nonintake of folic acid in the first trimester and one mother was suffering from rubella. CAs were classified according to major system and coded as per ICD-10 codes. Digestive system was the most predominant system involved, followed by central nervous system (CNS) and cardiovascular system. Anomalies of gastrointestinal tract, CNS, and cardiovascular system accounted for 35%, 26.6%, and and10%, respectively [Table 3].
Table 2: Distribution of congenital anomalies according to sociodemographic risk factors

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Table 3: Description of congenital anomalies according to major systems and international classification of diseases-10 codes

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   Discussion Top

Hospital-based studies do not accurately measure the burden of CAs as they also fail to capture entire spectrum of CAs. Ideally, incidence of CAs should be determined by more robust longitudinal designs, but often available resources and logistics do not permit their use. Before we discuss our results in the context of what is already known about the magnitude of CAs in India and elsewhere, we would like the readers to consider the following.

First, direct comparisons without consideration of the type of study and the measures used to represent magnitude are likely to be fallacious. Second, only broad similarities or differences can be discerned by aggregating results. Third, it must be kept in mind that even similar studies are strictly not directly comparable because of varying methods used to compute incidence. Literature search revealed very few community-based studies reporting magnitude of CAs from India. Kalaiselvan et al.[7] reported incidence of 10/1000 live births with follow-up to 3 months, Sridhar [8] reported the prevalence of 13/1000 live births for visible CAs under the age of 15 years. Cherian et al.[9] reported incidence of neural tube defects (NTD) as 6.5–8.2/1000 live births. The preceding three examples demonstrate how three different methods of computations have been used to define magnitude and therefore direct comparisons may not be valid. We observed higher figures as we picked up more CAs for the following reasons.

Our period of observation spanned entire antenatal period including stillbirths and abortions. It is already known that chances of CAs are 4–6 times higher among pregnancies terminating in stillbirths and miscarriages as reported by Parmar et al.[10] However, since ours was a community-based study in a rural setup, we could not investigate the presence/absence of CAs in abortions and stillbirths due to limited resources and advanced diagnostic techniques. Moreover, parents were not ready for further investigations.

We were able to collect data on the outcome of pregnancies from referral centers as well. We followed the children for nearly 5 months after birth and therefore identified anomalies manifesting later in infancy as well. Therefore, it is clear that other investigators might have missed many CAs as their period of observation was shorter and did not include stillbirths and abortions. It must be noted that despite dissimilarities, the magnitude (incidence) is reported in a narrow range. The reported magnitude in terms of prevalence, however, varies more widely. It may be because some studies reported CAs on the basis of (a) clinical examination or visible CAs.[8],[10],[11],[12] (b) surveillance of stillbirths alone [13] or (c) application of a battery of tests or on following up for some time after birth.[7],[14] The present study estimated incidence of 33.7/1000 live births. Meta-analysis of CAs based on 23 studies extending from 1969 to 1982 revealed a prevalence of 20–30/1000. This figure fall somewhere in the middle of incidence and prevalence-based studies. It is also indicated that the magnitude is higher among northern areas of India.[15] What inferences, therefore, can be drawn? Is it static, increased or have decreased over the years? Evidence suggests that it is more or less stable within a narrow range. Although the incidence of some CAs has shown a downward trend since more CAs is being identified owing to the availability of technological tools, the trend looks static. Increased awareness and increased access to health services including increase in the number of institutional deliveries might have contributed to the situation as well (We observed nearly 95% of deliveries in our study taking place in institutions). A couple of investigators have reported higher rates than us (Fernando et al.).[16] Reasons enumerated in the above paragraph aptly describe the change in magnitude depending on how these are distributed or how these operate in a particular setting. Many studies reporting CAs have published figures according to the systems involved. CNS abnormalities have been reported most frequently both in hospital [17],[18],[19] and community-based studies.[9] We observed preponderance of CAs from digestive system which on aggregate level compare well with a couple of investigators.[20],[21],[22] However, the similarity ends at aggregate level. Most CAs reported by us comprise of umbilical hernias, which is not the case with other investigators. The chief reason probably accounting for this preponderance is that majority of these defects were identified at 6–14 weeks, a period that coincided with the trial enrolment phase when the field staff was actively looking for the presence of CA, one of the exclusion criteria for the trial participants.

A lot of work has been done on the congenital malformations of central nervous system including its association with environmental and genetic factors and the role of folic acid in its prevention.[13] The incidence of anomalies of central nervous system in the present study was (10/1000 live births) which is similar to two others investigators.[9] Many studies conducted in north India has reported a high incidence of CNS anomalies.[11],[15],[18],[19] However, Mahadevan and Bhat [17] have reported a rising trend of NTDs in southern India as well.

The overall incidence of CAs in males was slightly higher than females 34.1/1000 live births and 33.3/1000 live births respectively in our study. The biological fragility of the male fetus and higher risk from obstetric catastrophes culminating in a higher incidence of congenital deformities in males has been postulated, although the debate is yet to settle.[23] The sex differences with regard to a different anatomical system and individual malformations were also observed in the present study. We observed female predominance in CNS anomalies. The overall incidence of CAs being slightly higher in males. Various other studies have also reported higher overall incidence among males.[8],[10],[13],[16],[24] More male conception (120:100) and higher vulnerability of male fetus as described above could account for male preponderance of CAs among males. Some investigators, however, have reported no overall differences in sex of the babies with CAs.[10]

We also observed a U-shaped pattern in the incidence of CAs with regards to parity and maternal age, similar to figures reported by other investigators.[24] The other maternal characteristic which was seen in significant number of women included lack of intake of folic acid in the first trimester. As majority of women become aware of their pregnancy only after 3rd–4th week of conception, folic acid supplements consumed at or after this period is too late to prevent NTD as neural tube closure happens generally by the 27th day of conception. We may have underestimated the incidence of CAs as it is quite possible that very early first trimester abortions may have been missed.

The preceding paragraphs make it clear that CAs contribute significantly to morbidity, mortality, and disability among children. The situation seems static for the last couple of decades. Literature review indicates that a substantial number of CAs (particularly related to CNS) can be prevented if appropriate precautions are exercised before and during pregnancy. Further, a substantial proportion can be managed more effectively, and further disability can be prevented if CAs are identified at an early stage.

   Conclusion Top

The study demonstrated that the CAs continue to occur in Jammu at a similar magnitude as reported from other parts of the country.

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Conflicts of interest

There are no conflicts of interest.

   References Top

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  [Table 1], [Table 2], [Table 3]

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