A two-year study of patterns and prevalence of congenital malformations

Sowmyanarayanan Lavanya, Vuppu Seethalakshmi


Background: India is undergoing an epidemiological transition; communicable diseases are on the decline due to better living conditions and healthcare delivery. On the other hand, the relative increase in the prevalence of non-communicable, chronic and genetic diseases threatens to be a public health problem in India like congenital malformations. Congenital malformations remain one of the least focused areas of disease surveillance in India compared with communicable and some chronic diseases. Thus, data on the magnitude of birth defects are essential to plan preventive strategies and organize methods of supportive care for affected individuals and families. The aim of this study is to study the incidence and prevalence of the birth defects and the patterns of congenital malformations in our institute and the various risk factors influencing the occurrence.

Methods: A cross sectional study was conducted on all Ant natal patients and deliveries conducted in the institution for a period of two years from June 2015 to May 2017. Mediscan Systems extended a big hand in further confirmation of diagnosis. A detailed history was taken regarding the patients and husband’s age, parity, occupation, previous obstetric outcome, family history of birth defects and exposure to teratogens and environmental factors and intake of periconceptional folate. Data analysis was done with respect to age, parity, consanguinity, sex, previous defects.

Results: CNS defects were the most recognisable malformations at birth. Pick up rate for CVS anomalies were low requiring expertise. As against the wide prevalence of cardiac defects across total population the reported prevalence is less as similar to rest of the studies done in many centres across the country. Target scan has halved the burden of birth defects.

Conclusions: Congenital malformations though cannot be prevented totally but can be minimised and if detected early will reduce the mental agony in the mother and family. Prenatal counselling, periconceptional folate, anomaly scan, Prenatal diagnosis reduce the incidence of birth defects.


Congenital malformations, Karyotyping, Lethal and non-lethal defects, Prenatal diagnosis, Target scan, Ultrasound

Full Text:



Patel ZM, Adhia RA. Birth defects surveillance study. Indian J Pediatr. 2005;72:489-91.

Agarwal SS, Singh U, Singh PS, Singh SS, Das V, Sharma A, et al. Prevalence and spectrum of congenital malformations in a prospective study at a teaching hospital. Indian J Med Res. 1991;94:413.

Kalra A, Kalra K, Sharma V, Singh M, Dayal RS. Congenital malformations. Indian Pediatr. 1984;24:945-50.

Mohanty C, Mishra OP, Das BK, Bhatia BD, Singh G. Congenital cardiac malformation in newborn: A study of 10,874 consecutive births. J Anat Soc India. 1989;38:101-11.

Sugunabi NS, Mascarane M, Syamala K, Nair PM. An etiological study of congenital malformations in new born. Indian Pediatr. 1982;19:1003-7.

Chaturvedi P, Benerjee KS. Spectrum of congential malformations in the newborn from rural Maharashtra. Indian J Pediatr. 1989;6:501-7.

Matsunga E, Oishi TA. Reexamination of paternal age effect in Down’s syndrome. Human Genetics. 1978;40(3):259-68.

Brent RL. Utilization of animal studies to determine the effect and risk of Environmental toxicants, drugs (chemicals, and physical agents). Paed. 2004;113:984.

De Wals P, Trochet C, Pinsonneault L. Prevalence of neural tube defect in the province of Quebec, 1992. Can J Public Health. 1999;90:237-9.

Baird PA, Anderson TW, Newcombe HB. Genetic disorders. Am J Hum Genet. 1998;42:677.

Czeizel AE, Intody Z, Modell B. What proportion of congenital abnormalities can be prevented? Br Med J. 1993;306(6876):499-503.

Suresh S, Thangavel G, Sujatha J. Methodological issues in setting up a surveillance system for birth defects in India. Nat Med J India. 2005;18(5).

Nelson-Piercy C. Pre-pregnancy counselling. J Obs Gynaecol Reprod. 2003;13:273-80.

Ahmed AM, Elkader SA, Hamid AA, Gaafar HM. Assessment of risk factors for fetal congenital anomalies among pregnant women at Cairo university hospitals. J Am Sci. 2011;7:899-908.

Sridhar K. A community based survey of visible congenital anomalies in rural Tamil Nadu. Indian J Plast Surg. 2009;42(l);S184-91.