Study of clinical profile and associated risk factors for congenital malformations in neonates: a hospital based prospective study


  • Mamta Nikhurpa Department of Pediatrics, District Female Hospital, Haldwani, Uttarakhand
  • Sucheta Munshi Department of Pediatrics, B J Medical College, Ahmedabad, Gujarat
  • Dipti Shah Department of Pediatrics, B J Medical College, Ahmedabad, Gujarat



Congenital malformations, Neonatal mortality, Maternal risk factors


Background: Congenital malformations are major cause of neonatal morbidity and mortality and account for 8-10% of all peri-natal deaths especially in developing countries. Incidence of congenital malformation is increasing owing to reduction in other causes of neonatal deaths due to improvement in perinatal care worldwide. This study was aimed to evaluate the incidence, perinatal variables and contributing risk factors associated with birth defects that will help to plan future strategies for prevention, early diagnosis and timely management.  

Methods: This is a hospital-based prospective observational study conducted in department of pediatrics of a tertiary care centre of western India over period of two year. All new-borns with anatomical congenital malformations detected antenatal or postnatal (prior to discharge) period were included in this study. Detailed and careful clinical examination was carried out for all new-born.

Results: The incidence of congenital malformation in the present study is 1.27%. Prematurity (76.1%), low birth weight (68%) and male neonates (67%) were associated with increased risk of congenital malformation. Most common system involved in this study was cranio-spinal system (47.3%). Overall, most common congenital anomaly was Hydrocephalus with meningomyelocele (8%). Among maternal variables, malnutrition (90%), consanguinity (40%) and abortions (40%) are strongly associated with malformations.  

Conclusions: Congenital malformations are important cause of neonatal death. Strategies to diagnose, prevent, treat and rehabilitate the neonate are utmost necessary. Early screening to identify high risk pregnancies and timely management is strongly recommended.

Author Biographies

Mamta Nikhurpa, Department of Pediatrics, District Female Hospital, Haldwani, Uttarakhand

Pediatrician (MD)

Sucheta Munshi, Department of Pediatrics, B J Medical College, Ahmedabad, Gujarat

Pediatrics, Associate Professor

Dipti Shah, Department of Pediatrics, B J Medical College, Ahmedabad, Gujarat

Pediatrics, Assistant professor


Ochieng J, Kiryowa H, Munabi I, Ibinga CBR. Prevalence, nature and characteristics of external congenital anomalies at Mulago hospital. East Cent Afr J Surg. 2011;16:26-30.

Liu L, Oza S, Hogan D, Chu Y, Perin J, Zhu J, et al. Global, regional, and national causes of under-5 mortality in 2000-15: an updated systematic analysis with implications for the Sustainable Development Goals. Lanc. 2016;17;388(10063):3027-35.

Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349-64.

Kar A. Birth defects: an emerging public health issue in the field of child health in India. In: Nimse SB, Agarwal MK, editors. Public health and development in India. New Delhi. 2015;222-36.

Birth defects in South-East Asia- A public health challenge- situation analysis in 2013.

Shannon GD, Alberg C, Nacul L, Pashayan N. Preconception healthcare and congenital disorders: systematic review of the effectiveness of preconception care programs in the prevention of congenital disorders. Matern Chil Heal J. 2014;18(6):1354-79.

Verma IC. Burden of genetic disorders in India. Ind J Pediat. 2000;67(12):893-8.

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.

Taksande A, Vilhekar K, Chaturvedi P, Jain M. Congenital malformations at birth in central India: A medical college hospital-based data. Ind J Hum Genet. 2010;16(3):159-63.

Singh A, Gupta R. Pattern of Congenital Anomalies in Newborn: A Hospital based Prospective study. JK Sci J Med Edu Resear. 2009;11(1):34-6.

Malla BK. One-year study of congenital malformations in maternity hospital (Prasutigriha) Thapathali, Kathmandu university Med J. 2007;5(4):557-60.

Dutta HK, Bhattacharya NC, Sarma JN, Kusre G. Congenital malformations in Assam. J Ind Assoc Pediat Surg. 2010;15(2):54-6.

Suguna Bai NS, Mascarene M, Syamalan K, Nair PM. An etiological study of congenital malformation in the newborn. Ind Pediatr. 1982;19(12):1003-7.

Desai N, Desai A. Congenital anomalies: A prospective study at TN medical college and BYL Nair hospital Mumbai. Bombay Hosp J. 2006;48(3):109-14.






Original Research Articles