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Year : 2021  |  Volume : 7  |  Issue : 1  |  Page : 22-27

A prospective study on congenital anomalies at birth at a tertiary care teaching hospital in Bihar

1 Department of Obstetrics and Gynaecology, PMCH, Patna, Bihar, India
2 Department of Reproductive Medicine, IGIMS, Patna, Bihar, India

Date of Submission21-Dec-2020
Date of Decision24-Mar-2021
Date of Acceptance31-Mar-2021
Date of Web Publication12-Feb-2021

Correspondence Address:
D-305, Sai Enclave, Vijay Singh Yadav Path, Khagaul Road, Danapur, Patna, Bihar
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jigims.jigims_8_20

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Background: Birth defect, also known as congenital anomaly, is a condition present at birth regardless of its cause. They may be structural or functional including metabolic disorders. Congenital anomalies are the important causes of stillbirth, infant and childhood deaths, chronic illness, and long-term disability. Congenital anomalies or birth defects are still not considered a significant health problem in India as they are low in the prevalence. However, scenario is changing fast. Data on the prevalence of congenital anomalies are needed to channelize the health service for the prevention and management. The objective was to study the prevalence of congenital malformations in new-borns and the associated factors.
Subjects and Methods: This is a prospective study undertaken on women admitted in labor room of PMCH, Patna, from June 2018 to May 2019. All live and still born babies with congenital anomalies were included in the study. Sociodemographic factors and information of antenatal checkup of mothers recorded.
Results: Out of the total 6647 deliveries, 82 babies were malformed. Incidence was 1.33%. Live babies were 60, whereas 22 were still born. The incidence was higher in multigravidas and age more than 30 years. Neural tube defect was the most common.
Conclusions: Birth defect surveillance at a larger level is required to understand it's magnitude in India. Most anomalies are preventable. Prevention and management of nutritional deficiency and medical disorders such as diabetes, hypothyroidism, and cardiac diseases can reduce the incidence. Regular antenatal care, folic acid supplementation, and vaccinations should be promoted.

Keywords: ANC, birth defects, NTD, still birth

How to cite this article:
Pushpa, Kumari S. A prospective study on congenital anomalies at birth at a tertiary care teaching hospital in Bihar. J Indira Gandhi Inst Med Sci 2021;7:22-7

How to cite this URL:
Pushpa, Kumari S. A prospective study on congenital anomalies at birth at a tertiary care teaching hospital in Bihar. J Indira Gandhi Inst Med Sci [serial online] 2021 [cited 2022 Nov 28];7:22-7. Available from: http://www.jigims.co.in/text.asp?2021/7/1/22/318929

  Introduction Top

Congenital anomalies, also commonly referred to as birth defects, congenital disorders, congenital malformations, or congenital abnormalities, are the conditions of prenatal origin that are present at birth, potentially impacting an infant's health, development, and/or survival. Congenital anomalies encompass a wide array of structural and functional abnormalities that can occur in isolation (i.e., single defect) or as a group of defects (i.e., multiple defects).[1]

Every year an estimated 8 million children, 6% of total births worldwide, are born with a serious birth defect of genetic or partially genetic origin. In addition, hundreds of thousands more are born with serious birth defects of postconception origin due to maternal exposure to the environmental agents. At least 3.3 million children <5 years of age die annually because of serious birth defects and the majority of those who survive may be mentally and physically disabled for life.[2]

According to centers for disease control and prevention, some of the common birth defects include heart defects, cleft lip with or without cleft palate, Down syndrome and spina bifida, Trisomy 18, gastroschisis, and Omphalocele.[3] Such inborn syndromes and malformations can affect the organs, senses, limbs, physical, and mental development. It can also cause pregnancy loss through miscarriage and stillbirth. While some conditions can be recognized at birth, others become apparent later in life. Some congenital anomalies can produce long-term disabilities that require a lifetime of care. Congenital abnormalities can be chromosome abnormalities such as Down syndrome, single-gene abnormalities such as autosomal dominant inheritance, conditions occurring during pregnancy that cause abnormalities at birth such as diabetes, genetic factors combining with environmental factors to cause spina bifida, or even any unknown cause.

According to March of Dimes (MOD) Global Report on Birth Defects,[2] worldwide 7.9 million births occur annually with serious birth defects and 94% of these births occur in the middle- and low-income countries. According to joint World Health Organization (WHO) and MOD meeting report, birth defects account for 7% of all neonatal mortality and 3.3 million under five deaths. In India, birth defects prevalence varies from 61 to 69.9/1000 live births. Major birth defects include congenital heart defects, neural tube defects (NTDs) and down syndrome, hemoglobinophathies and glucose-6-phosphate dehydrogenase deficiency, cause 20% of infant mortality and are responsible for a substantial number of childhood hospitalizations.[4] It has been estimated that 70% of birth are preventable.[4]

A quarter of global neonatal deaths occur in India. In 2013, the country reported a neonatal mortality rate of 29 per 1000 live births, responsible for 753,000 neonatal deaths. Congenital anomalies constituted the fifth largest cause, being responsible for an estimated 9% of neonatal deaths in 2010.[5]

Increased incidence of irradiation, alkylating agents, smoking, and alcohol has contributed to increased incidence of congenital malformation. The true magnitude of the number of births affected by congenital anomalies in India is unknown due to the lack of a national birth defects surveillance. The need of data arises for the estimation of affected pregnancies and disabled children and for programming and implementation of strategic preventive, medical, and rehabilitative services. The present study is conducted to understand the magnitude and to be able to prevent the occurrence and management of long-term disabilities.

  Subjects and Methods Top

The objective was to study congenital malformations in new-borns and stillbirths and estimate the prevalence of birth defects. An attempt was also made to study associated factors with the affected pregnancy.

This is a prospective study undertaken on women reporting at emergency room of department of obstetrics and gynaecology, PMCH, Patna, Bihar, from June 2018 to May 2019, after taking ethical clearance. It was an attempt to estimate the congenital anomalies among live and still births. The congenital anomaly diagnosed prenatally (and confirmed at birth), or at birth were included in study. The inclusion criteria was based on the WHO manual of hospital-based surveillance program.[6] Parents were told about the study and that the information will be shared and consent was taken.

Inclusion criteria

Live births and stillbirths delivered at an age of 28 weeks gestation or more.

Birth weight of at least 1000 g when gestational age is not available.

Foetuses with at least one of the selected major congenital anomalies at any gestational age, for the subset of congenital anomalies for which a prenatal diagnosis is considered definitive (e.g., anencephaly) after terminations of pregnancy.[6]

Exclusion criteria

All neonates with or without congenital anomalies of <28 weeks' gestational age or with a birth weight of <1000 g, if gestational age is not available.

All babies were clinically examined. Patients' personal records, history, obstetric history, h/o previous malformed baby, drug intake, habits, and consanguinity were taken. Any malformed baby suspected of having syndromic malformations was also confirmed by investigations, for example, ultrasonography (USG), X-ray, echo, and consultation with pediatrician.

All anomalies were recorded and classified by the organ system according to the 10th version of the WHO International Classification of Diseases-10.[7] Babies were followed up to 7 days (early neonatal period), which is the usual hospital stay for patients with affected pregnancy.

Data were analyzed using the computer software MS Excel 2019. The patient's characteristics were reported as percentages or mean ± standard deviation as deemed appropriate.

  Results Top

In the study duration of 1 year out of total 6647 deliveries, 82 babies were malformed. Live births were 6353. The prevalence of birth defects was found to be 12.91/1000 live births. Male babies were 3586 and 3061 were female. Malformed babies in each sex were 49 (1.36%) and 33 (1.07%), respectively. Stillbirths were 22 (26.83%) of all birth defects.

Birth defects were found more in patients who were above 30 years of age (42/82, 51.21%). Multipara patients were associated with more congenital anomalies (78.05%). Medical disorders were found in 18 cases of anomalies. Most cases (52.44%) presented between 28 and 34 weeks of pregnancy. Some cases of anencephaly terminated before 28 weeks of gestation. Most were delivered through vaginal route (85.65%) [Table 1].
Table 1: Maternal and perinatal profile in affected pregnancies

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Central nervous system (CNS) deformities were most common (56.09%) of birth defects detected. Musculoskeletal deformities in 15 babies, whereas cleft lip and palate were found in five cases. Cardiovascular defects in 5 cases, 2 cases of hydrops fetalis, 1 case of thoracopagus conjoint twin, and 1 case of Down's syndrome found [Table 2].
Table 2: Description of congenital anomalies according to the major systems and International Classification of Disease-10 codes

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NTDs were the most common form of birth defects (35.36%). Cleft lip and palate were found in five (6.09%) babies. Hydrocephalus was found in 15 (18.29%) babies and most were detected at term or at birth. Six babies had mild degree, whereas 9 had marked ventriculomegaly.

Out of 82 babies delivered with anomalies, 22 were stillbirths. Forty babies died in early neonatal period (0–7) days. Follow-up more than that could not be done.

None of the patients had their 1st ANC before the 2nd trimester. Forty patients came with a single USG report and were referred to hospital. Some (30) were diagnosed after admission and 12 were found only after delivery.

  Discussion Top

The present study was conducted to know the magnitude and type of birth defects prevalent in the token community of Bihar that is patients attending our hospital. It was an attempt to contribute the relevant data to the studies of congenital anomalies as there was no national surveillance.

In this study, the incidence is 1.29%. The WHO reports 3%–7% of new-born abnormities every year worldwide. The prevalence of congenital anomalies varies due to various racial, sociocultural, and ethnic influences. Low incidence in our study is probably because malformation at birth only was included except for few anencephaly cases which were terminated before 28 weeks. Furthermore, very few women in our study are exposed to alcohol and smoking. Ara et al. found anomalies 30.5/1000 birth in a population-based surveillance in Jammu.[8] Local incidence rates in Indian studies range from 0.3% to 3.6%, the most recent being 2.36%.[9],[10]

In a study of Sarkar et al., most of the women (55.7%) belonged to the age group between 21 and 30 years. Congenital anomalies were seen more commonly (3.3%) in the multiparas in comparison with primiparas (1.8%).[11] In our study, 51.21% patients were above 30 years of age and 35.36% women belonged to the age group of 21–30 years. Similarly, congenital anomalies were found more commonly (78.05%) in multipara than in primiparas (21.95%).

In our study, only 5 (6.09%) were diabetic. The other important risk factors were hypothyroidism (12.19%), H/O previous malformation, H/O epilepsy, maternal cardiac disease, and H/O infertility were 2.43%, 1.21%, 2.43%, and 2.43%, respectively. Consanguinity was found in 9 (10.95%).

Our hospital is the oldest and the highest level of state government facility providing services free of cost to all strata of society, especially lower socioeconomic population. None of the attending patients with affected pregnancy had their 1st ANC before the 2nd trimester. Anencephaly can be diagnosed in the 1st trimester by USG, but in our set of patients, only 7 were diagnosed and referred to our hospital before 28 weeks and none in 1st trimester. Other seven cases reported for the 1st time between 28 and 34 weeks, diagnosed by the USG and termination was done. Many anomalies were diagnosed in the 3rd trimester only after admission to labor room and 12 babies with defects could only be found out after birth. This shows the lack of awareness for regular antenatal checkup in our patients still and thus in the population they represent.

CNS deformities were the most common (56.09%) of birth defects detected, 7.47/1000 live births. In a study of Mathur and Mukherjee,[12] CNS was affected in 1.2%. Musculoskeletal system 0.8%, digestive system 0.5%, and urogenital system in 0.5%. In our study, these are 2.4%, 0.65%, 0.65%, and 1.46%, respectively. The most common anomaly in our study was NTDs (35.36%).

Foetal hydrops was found in two patients. One was a case of Rh isoimmunization, whereas the other one was a case of nonimmune hydrops. Exact cause could not be found except that the mother had uncontrolled diabetes while presenting to our hospital because of limitations regarding certain specific investigations and lack of autopsy. One patient with conjoint twin was diagnosed when she attended hospital for the first time with complaints of less foetal movement and was diagnosed at USG by radiologist. They were thoracopagus delivered by lower segment cesarean sections and were both female. The babies died in the neonatal period.

The stillbirths mainly displayed CNS anomalies (anencephaly, meningocoele, hydrocephalus, and achondroplasia) and malformations were four times more common in stillbirths (71 out of 561) in a study of Mathur and Mukherjee.[12] In our study, it was 22 out of 384 stillbirths.

The data from this study has significant health service implications in terms of necessary care. Several babies with anomalies needed care, in the form of corrective surgery, orthopaedic interventions or additional investigations like imaging. These included new-borns with congenital heart diseases, congenital talipes equinovarus, poly and syndactyly, cleft lip and palate, and congenital hydronephrosis. Keeping in mind the absolute numbers as indicated in this study, the data suggest that pediatric surgery services for congenital anomalies should be made accessible to all including low socioeconomic group population as part of new-born care.

This study typically collects the data on live births and stillbirths, because neonates are discharged within days following birth. Our hospital is a tertiary care teaching hospital which is a referral hospital for whole of Bihar. Therefore, referral bias may be present. Defects present in babies surfacing later in infancy are not likely to be captured. Autopsy on stillborn babies could not be done because of social reasons and lack of consent from parents. An infantogram is desirable in this condition, especially in suspected skeletal defects but could not be done in an already overburdened radiology department and lack of motivation in bereaved family for further investigation of anomalous stillborn baby. A government programme dedicated to congenital anomalies and large-scale surveillance is needed to avoid these difficulties.

  Conclusions Top

Congenital anomalies may be the result of one or more genetic, infectious, nutritional, or environmental factors. With changing social and environmental factors, increasing congenital defects is a cause of great concern. The genetic inheritance recurrence cannot be prevented, but we can certainly modify some of the factors reducing the occurrence and recurrence of defects.

Vaccination, adequate intake of folic acid or iodine through fortification of staple foods or supplementations, and adequate antenatal care are just the three examples of prevention methods. Complications of Rh incompatibility can be easily prevented by administering anti D immunoglobulin.

Early detection and management can reduce long-term impact and improve the quality of life of millions of people.

Early diagnosis and management of gestational diabetes and thyroid disorders should be done. The limitation of teratogen and education of mothers regarding this should be done. Some factors such as smoking and alcohol radiation can be easily prevented.

Early detection such as USG diagnosis and serum markers at early gestational weeks can reduce the long-term impact or can even alleviate them completely. Prenatal genetic counseling, screening, and diagnosis should be emphasized to evaluate a fetus with risk of chromosomal, genetic, or a structural abnormality. Noninvasive screening for chromosomal anomaly (trisomy 21, 18, and 13) should be a routine to all pregnant women, irrespective of their age and should be further investigated if screened positive.[13] Double marker test (free β hcg and pregnancy-associated plasma protein-A) and nuchal translucency scan are must for earliest screening. Furthermore, cost of these tests must be reduced to make them affordable to all socioeconomic strata. People and health-care providers in peripheries should be made aware of regular ANC, and 1st and 2nd trimester screening so that required interference could be done at earliest possibility.

With more research, better understanding and comprehensive efforts it is likely that incidence of these conditions can be reduced and thereby improving the quality of life of millions of people in India and around the world.


We are grateful to our patients for their cooperation despite their sad obstetric outcome

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

DeSilva M, Munoz FM, Mcmillan M, Kawai AT, Marshall H, Macartney KK, et al. Congenital anomalies: Case definition and guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine 2016;34:6015-26.  Back to cited text no. 1
Christianson A, Howson CP, Modell B. March of Dimes Global Report on Birth Defects: The Hidden Toll of Dying and Disabled Children. Research Report. March of Dimes Birth Defects Foundation, White Plains, USA; 2006. Available: https://www.marchofdimes.org/global-Report-on-Birth-Defects-the-Hidden-Toll-of-Dying-and-Disabled-Children-Full-Report.Pdf. [Last accessed on 2020 Nov 27].  Back to cited text no. 2
World Health Organization. Management of Birth Defects and Haemoglobin Disorders: Report of a Joint WHO-March of Dimes Meeting. Geneva, Switzerland, Geneva: WHO; 2006.  Back to cited text no. 4
Bhide P, Kar A. A national estimate of the birth prevalence of congenital anomalies in India: Systematic review and meta-analysis. BMC Pediatr 2018;18:175.  Back to cited text no. 5
Birth Defects Surveillance: A Manual for Programme Managers; March 25, 2014. Available from: https://www.who.int/publications/i/item/9789241548724. [Last accessed on 2020 Nov 27].  Back to cited text no. 6
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.  Back to cited text no. 8
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Ghosh S, Bali L. Congenital malformations in the newborn. Indian J Child Health 1963;12:448-52.  Back to cited text no. 9
Bhide P, Sagoo GS, Moorthie S, Burton H, Kar A. Systematic review of birth prevalence of neural tube defects in India. Birth Defects Res A Clin Mol Teratol 2013;97:437-43.  Back to cited text no. 10
Sarkar S, Patra C, Dasgupta MK, Nayek K, Karmakar PR. Prevalence of congenital anomalies in neonates and associated risk factors in a tertiary care hospital in eastern India. J Clin Neonatol 2013;2:131-4.  Back to cited text no. 11
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Mathur SB, Mukherjee SB. Congenital malformations to birth defects – The Indian scenario. Indian Pediatr 2017;54:587-8.  Back to cited text no. 12
Dutta DC, Hiralal K. DC Dutta's Textbook of Obstetrics. 9th ed., Ch. 12. New Delhi, India: Jaypee Brothers Medical Publishers (P) Ltd, Prenatal Genetic Counseling, Screening and Diagnosis; 2019. p. 102-7.  Back to cited text no. 13


  [Table 1], [Table 2]


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