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ORIGINAL ARTICLE
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Pattern of congenital birth defects at a tertiary care center in South India; A facility-based cross sectional study


1 Department of OBG, ESICMC and PGIMSR, Rajajinagar, Bengaluru, Karnataka, India
2 Department of Comunity Medicine, ESICMC and PGIMSR, Rajajinagar, Bengaluru, Karnataka, India

Date of Submission21-Jan-2022
Date of Decision17-Apr-2022
Date of Acceptance20-Apr-2022
Date of Web Publication02-Nov-2022

Correspondence Address:
Vedavathy Nayak,
Gurudev, No. 6, 1st Main, Laxmanappa Nagar, M L A Layout, R M V 2nd Stage, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_59_22

  Abstract 

Background: The prevalence and the pattern of birth defects help in devising strategies to reduce the burden of preventable birth defects. The study aimed to find out the pattern of various congenital anomalies in babies born at ESICMC & PGIMSR Hospital, Bangalore and to identify the associated risk factors, if any. Material and Methods: This hospital-based observational study was conducted in the Department of OBG during the period from 2016 to 2019. The data were collected from records and history taken from the antenatal patients with diagnosis of congenital abnormalities delivering at ESICMC & PGIMSR Hospital, Bangalore. Babies born were also assessed for congenital anomalies. Details of maternal age, parity, consanguinity, occupation, and maternal complications like diabetes were collected. The nature and severity of congenital abnormalities were recorded. Results: Out of total 11,469 deliveries in the study period, 77 babies were born with congenital anomalies (Prevalence 0.67%). The most common congenital anomalies involved the craniospinal system (53.2%), followed by the musculoskeletal system (19.5%). Multiple anomalies were present in 14.3% children. Anencephaly was the most common CNS anomaly. A history of abortions was present in 26% of women carrying anomalous fetuses. Majority of the anomalies were detected within 24 weeks of gestation (54.5%). A past h/o anomalous fetus or intrauterine fetal demise was present in 7% women. Conclusions: Our study observed that previous h/o abortions, history of consanguineous marriage, diabetes mellitus, and previous h/o anomalous fetus/IUD are prevalent among the women with anomalous babies in the study setting. Awareness to a large extent needs to be generated regarding the role of consanguinity as a risk factor for congenital anomalies. The importance of folic acid intake and early diagnosis and management of diabetes also needs to be emphasized. Prenatal diagnosis may be recommended to detect malformations early and plan management accordingly.

Keywords: Birth defects, congenital anomalies, risk factors



How to cite this URL:
Nayak V, Bharathi A, Arpitha M R, Anushree N, Marimuthu Y. Pattern of congenital birth defects at a tertiary care center in South India; A facility-based cross sectional study. Med J DY Patil Vidyapeeth [Epub ahead of print] [cited 2022 Dec 7]. Available from: https://www.mjdrdypv.org/preprintarticle.asp?id=360434




  Introduction Top


There has been a significant decline in infant and childhood mortality rates in most of the countries for the past 2 decades and is due to successful use of immunization, control of communicable diseases like diarrheal, acute respiratory infections, and improvement in health care services. As a consequence, birth defects contribute to a greater proportion of under-five mortality (WHO fact sheet, 2020). In developed countries, birth defects cause 30–35% of perinatal, neonatal, and childhood mortality. In developing countries, they contribute to about 5–7% of mortality. Congenital anomalies are of prenatal origin resulting from the defective embryogenesis or intrinsic abnormalities in the process of development.[1] About 2.5% of neonates at birth are affected by birth defects in India. They account for 8–15% of perinatal deaths and 13–16% of neonatal deaths.

The burden of birth defects is much higher in developing countries than in the high income countries. This is due to the differences in maternal health care, nutritional deficiencies, and a greater frequency of consanguineous marriages. Birth defects not only cause a tremendous drain on national resources especially in the low income countries but also cause a significant impact on individuals, families, and society. This justifies the need for early diagnosis and proper management of congenital anomalies. Congenital anomalies are defined as structural and functional abnormalities (including metabolic disorders). They occur during intrauterine life and can be identified perinatally, at birth or sometimes detected later in infancy.[2] They can be an isolated abnormality or part of a syndrome.

Congenital malformations are multifactorial in origin, caused by the interaction of both genetic and environmental factors. Causes of birth defects include chromosomal disorders (1 in 263 births) and single gene disorders (1 in 81 births). Environmental factors include nutritional deficiencies, infectious diseases, maternal medical conditions, teratogenic medications, alcohol, drugs, and teratogenic pollutants.


  Need for the Study Top


Quantifying the burden and pattern of birth defects in a population helps in devising strategies to reduce the burden of preventable birth defects and thereby perinatal and under five mortality. It also helps in the appropriate allocation of health resources to reduce perinatal and infant mortality rates. With this background, the current study was conducted to assess the pattern of congenital anomalies and determine the factors associated with the congenital anomalies.


  Aims and Objectives Top


  1. To study the pattern of fetal congenital anomalies in babies born at ESICMC & PGIMSR Hospital, Bangalore.
  2. To identify the risk factors associated with congenital anomalies.



  Methodology Top


A record-based cross-sectional study was conducted at the Department of Obstetrics and Gynecology at ESICMC & PGIMSR Hospital, Bangalore. The hospital records of the deliveries conducted at the hospital during the period from 2016 to 2019 were used for the study. For the deliveries happened during 2019, the data is collected from the clinical history taken from antenatal patients with diagnosis of congenital abnormalities delivering at the institute and the newborn babies were examined for the congenital anomalies. Babies born outside our institution with congenital abnormalities and on treatment in our hospital were excluded from the study.

A predesigned semi-structured data collection form was used to obtain the demographic information and clinical details like maternal age, socio-economic status, parity, duration of marriage, mode of conception, previous h/o abortions, congenital anomalies, or intrauterine fetal demise. Maternal complications like diabetes, hypertension were also collected. Other details like family h/o congenital malformations, maternal drug intake, alcohol consumption, occupational status, exposure to radiation, h/o fever, nutritional deficiency, blood grouping, and typing were collected. Congenital anomalies were detected either by ultrasound examination or by physical examination at birth. Fetal outcome was evaluated. Birth weight of the baby, gender, mode of delivery, nature, and severity of the congenital abnormalities were also documented. Appropriate investigations and treatment to the live fetus were instituted.

Statistical analysis

The continuous variable is summarized using Mean [standard deviation (SD)] or median [interquartile range (IQR)] based on the distribution of data. The categorical variables are described using frequencies and percentages. Categorical variables are depicted in pie diagrams and bar charts.

Ethical considerations: The study was conducted after getting approval by the institutional ethics committee. Written informed consent was taken from the parents.


  Results Top


During the 4 years study period, 11,469 babies were in the study setting, out of which 77 babies were identified with congenital anomalies. The prevalence rate of congenital anomalies was 0.67% (95% CI: 0.53–0.84). Majority of the women with babies having birth defects were in the 21–30 years of age group (63.6%) [Figure 1].
Figure 1: Age distribution

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About 34 (44.2%) women were primiparous and 43 (55.8%) were multipara. Most of the anomalies were detected at </= 24 weeks gestation (53.2%) [Figure 2]. 37 (48%) of the anomalous fetuses were male and 34 (44%) were female. In six cases, the sex could not be ascertained because of the very early gestational age and small size of the abortus.
Figure 2: Gestational age

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The maternal risk factors identified were a previous h/o abortions in 21 (26%), age >30 years in 20 (26%), and h/o consanguinity in 13 (16%) women. Medical disorders complicated the pregnancies in 17 women, with 9 (11%) suffering from diabetes mellitus. 6 (7%) had a previous h/o anomalous fetus or intrauterine fetal demise in previous pregnancies. Only 5 (6%) had not taken folic acid supplementation during the pregnancy [Figure 3].
Figure 3: Maternal risk factors

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The system wise distribution of anomalies is as follows [Figure 4].
Figure 4: System-wise Distribution of Anomalies

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Most common among the anomalies were those affecting the CNS 41 (53.2%) with anencephaly being the most common CNS anomaly. Out of these, 15 (19.5%) had musculoskeletal and 7 (9.1%) had cardiovascular defects. There were multiple anomalies in 11 (14.3%) cases. The other systems (renal, gastrointestinal, and respiratory) accounted for 3 (3.8%) cases [Table 1].
Table 1: Spectrum of abnormalities affecting the various systems

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  Discussion Top


Congenital birth defects are important causes of still births and infant mortality. They can cause long-term disability, which may have a significant impact on individuals, families, health care systems and societies in general. The World Health Assembly at their 2010 meeting urged the member states to raise awareness about the importance of birth defects as the cause of childhood morbidity and mortality.[3] The prevalence of structural anomalies in the present study was 0.67%. Other studies from India reported a prevalence of 0.84% and 0.9%.[4],[5] Another study reported a prevalence of 1.48%.[6]

In the current study, congenital anomalies were noted with highest frequency (63.6%) in babies born of mothers aged between 21 and 30 years. But as the maximum number of deliveries occurs in this age group, more anomalies were detected in babies born to mothers of this age group. On the contrary, many studies support the increased incidence of congenital anomalies in advanced maternal age.[7],[8]

In a study by Kokate et al.,[5] most of the anomalies were detected at >28 weeks gestational age whereas in the present study majority of the anomalies were detected at </= 24 weeks gestation (54.5%). Our hospital caters to insured working class of women who mostly have regular anomaly scans helping in the early detection of anomalies.

It was observed that 55.8% of mothers in this study were multiparous, which is consistent with other similar studies.[4],[9],[10] However, a study reported that higher proportion of anomalies among primiparous mothers as compared to multiparous mothers.[11]

Our study observed that the most common system involved in congenital anomalies was the central nervous system (CNS) followed by the musculoskeletal system, which is similar to another study by Kokate et al.[5] The CNS was also the most common system involved in two other studies.[6],[11] A study done by Bhide et al.[12] reported that cardiac anomalies were the most common among congenital anomalies. Under diagnosis is common for congenital heart defects with some presenting late in infancy. In two other studies,[4],[13] renal and urinary system anomalies were the most commonly observed. In yet another study,[14] the musculoskeletal followed by the CNS were the common systems involved. The pattern of prevalence of anomalies varies in different parts of the country and geographic regions.

Among the risk factors studied, 26% of women carrying anomalous fetuses had previous h/o abortions in the present study. Jayasree et al.[4] also reported a similar frequency (25.1%) of previous abortions among newborns with the congenital anomalies. Savaskar et al.[9] also reported that previous history of abortions in mothers was associated with anomalous babies.

Jayasree et al.[4] reported a significant association between diabetes and congenital anomalies in their study. Diabetes and hypertension was present in 11% and 5% of the mothers with anomalous babies, respectively in our study. Another similar study reported a 5.3% occurrence of hypertension in their study.[4]

History of consanguineous marriage was present in 16% cases in our study whereas, Kokate et al.[5] reported that consanguinity is an important risk factor for congenital anomalies with 40% prevalence. Skeletal dysplasia was present in two women whose pregnancies were terminated and they also had past history of pregnancies terminated for the same anomaly. They were counseled regarding prenatal testing.[15]

The interpretation of prevalence in the study needs to be done with caution since it is a facility-based study and neonates with birth defects born outside but treated in our hospital were excluded.[16] Only structural anomalies detected antenatally or during delivery were included. Also women with 1st trimester abortions most likely due to anomalies were not included. These are considered limitations of this study. However, our study created evidence regarding the prevalence and the pattern of congenital anomalies in the study setting.


  Conclusion Top


Information on the burden of disease is one of the first steps to support public health policy and provides added value to evidence-based measures within the health sector. Our study observed that previous h/o abortions, diabetes, and history of consanguineous marriage are prevalent among women with anomalous babies in the study setting. Awareness to a large extent needs to be generated regarding the role of consanguinity as a risk factor for congenital anomalies. The importance of folic acid intake and early diagnosis and management of diabetes also needs to be emphasized. The feasibility of offering serum screening, noninvasive prenatal testing, ultrasonography, and even invasive testing to all women regardless of their age, genetic or family history needs to be explored for early detection, and appropriate management of the congenital anomalies.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Birth Defects in South-East Asia: A Public Health Challenge. Situation Analysis. WHO, Regional Office for South-East Asia. WHO; 2013. p. 1-5.  Back to cited text no. 1
    
2.
World Health Organization. Section on congenital anomalies. Available at http://www.who.int/mediacentre/factsheets/fs370/en/pdf. [Last accessed on 2016 Sep 12].  Back to cited text no. 2
    
3.
WHO. Birth Defects. Sixty-Third World Health Assembly. Agenda item 11.7. 2012. Available from: http://apps.who.int/gb/ebwha/. [Last accessed on 2012 Feb 10].  Back to cited text no. 3
    
4.
Jayasree S, D'Couth S. Prevalence of congenital anomalies in a tertiary care centre in North Kerala, India. Int J Reprod Contracept Obstet Gynecol 2018;7:864-9.  Back to cited text no. 4
    
5.
Kokate P, Bang R. Study of congenital malformation in tertiary care centre, Mumbai, Maharashtra, India. Int J Reprod Contracept Obstet Gynecol 2017;6:89-93.  Back to cited text no. 5
    
6.
Qurieshi MA, Qureshi UA, Munshi IH. Prevalence and pattern of birth defects in a tertiary care hospital in Kashmir: A pilot study. Glob J Med Public Health 2016;5:1-6.  Back to cited text no. 6
    
7.
Kalra A, Kalra K, Sharma V, Singh M, Dayal RS. Congenital malformations. Indian Pediatr 1984;24:945-50.  Back to cited text no. 7
    
8.
Francine R, Pascale S, Aline H. Congenital anomalies: Prevalence and risk factors. Univers J Public Health 2014;2:58-63.  Back to cited text no. 8
    
9.
Savaskar SV, Mundada SK, Pathan AS, Gajbhiye SF. Study of various antenatal factors associated with congenital anomalies born at tertiary health centre. Int J Recent Trends Sci Technol 2014;12:82-5.  Back to cited text no. 9
    
10.
Padma S, Ramakrishna D, Jijiya P, Ramana PV. Pattern of distribution of congenital anomalies in still born: A hospital based prospective study. Int J Pharma Bio Sci 2011;2:604-10.  Back to cited text no. 10
    
11.
Ghanghoriya V, Patel K, Ghanghoriya P. Prevalence and pattern of congenital anomalies at tertiary health care hospital. Int J Clin Obstet Gynaecol 2018;2:102-5.  Back to cited text no. 11
    
12.
Bhide P, Gund P, Kar A. Prevalence of congenital anomalies in an Indian maternal cohort: Healthcare, prevention, and surveillance implications. PLoS One 2016;11:1-13.  Back to cited text no. 12
    
13.
Wills V, Abraham J, Sreedevi NS. Congenital anomalies: The spectrum of distribution and associated maternal risk factors in a tertiary teaching hospital. Int J Reprod Contracept Obstet Gynecol 2017;6:1555-60.  Back to cited text no. 13
    
14.
Pabbati J, Subramanian P, Sudharshan RC, Sadhana N, Rao R. Study on incidence of congenital anomalies in a rural teaching hospital, Telangana, India. Int J Contemp Pediatr 2016;3:887-90.  Back to cited text no. 14
    
15.
Wojcik MH, Agrawal PB. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020;6:a005504. doi: 10.1101/mcs.a005504. PMID: 32826208; PMCID: PMC7552931.  Back to cited text no. 15
    
16.
Kumar, Jogender; Saini, Shiv Sajan, Sundaram, Venkataseshan. Prevalence & spectrum of congenital anomalies at a tertiary care centre in North India over 20 years (1998-2017). Indian Journal of Medical Research:2021;154; 483-90. doi: 10.4103/ijmr.IJMR_1414_19.  Back to cited text no. 16
    


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