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Epidemiological study of congenital malformations at birth in a tertiary health centre in central India

Congenital Malformations (CM), defined as a morphological defect of an organ, part of an organ, resulting from an internally abnormal developmental process. Congenital anomalies affect around 1 in 33 infants and result in approximately 3.2 million birth defect related disabilities every year. An estimated 2,70,000 newborn die during the first 28 days of life every year from congenital anomaly. Incidence of congenital anomalies in India is around 1.2-1.6%. Congenital anomaly account for 8-15% perinatal deaths and 13-16% of neonatal deaths in India. 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.


INTRODUCTION
Congenital Malformations (CM), defined as a morphological defect of an organ, part of an organ, resulting from an internally abnormal developmental process. 1 Congenital anomalies affect around 1 in 33 infants and result in approximately 3.2 million birth defect related disabilities every year. An estimated 2,70,000 newborn die during the first 28 days of life every year from congenital anomaly. 2 Incidence of congenital anomalies in India is around 1.2-1.6%. [3][4][5][6] Congenital anomaly account for 8-15% perinatal deaths and 13-16% of neonatal deaths in India. 7,8 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. 9 In India birth defects prevalence varies from 64.3/1000 live births. 9 According to March of Dimes (MOD) Global report on birth defects, worldwide 7.9 million births occur annually with serious birth defects and 94% of these births occur in the middle and low income countries. 10 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. 11 Birth Defect Registry of India (BDRI) show that the common systems involved in birth defects are Central Nervous System (CNS), Musculoskeletal System (MSS) and Cardiovascular System (CVS). 12

Causes and risk factors
Although 50% of all congenital anomalies (CA) cannot be linked to a specific cause, there are some known risk factors. The common causes of CAs can be grouped into genetic, environmental and multifactorial. 13 Socioeconomic factors: This is an indirect determinant, common in middle-and low-resource countries, where mothers are susceptible to macronutrient and micronutrient malnutrition, advanced maternal age, exposure to alcohol and infections. 2 Genetic factors: Consanguinity increases the prevalence of CA.
Infections: Maternal infections such as syphilis, toxoplasma, cytomegalovirus, herpes simplex, and rubella are a significant cause of CAs. 2 Maternal health status: Iodine deficiency, folic acid insufficiency, overt diabetes mellitus, maternal age, lack of immunization against rubella, unplanned pregnancies also contribute. 14,2 Environmental factors: Maternal exposure to pesticides, medications, alcohol, tobacco, and other psychoactive substances, certain chemicals, retinoids, high doses of radiation, working or living near or in waste sites, smelters or mines also contribute.

Importance
The importance of congenital malformations is as follows.
1. Deaths from CMs are increasing over the decades.
These are the first killer of infants under one year of age, approximately forty percent of early fetal deaths are supposed to be due to malformations. 15 2. CMs are the 2 nd most common consumer of pediatric hospital beds. 16 3. Economic and psychological burdens of parents with malformed babies are beyond all imagination.
4. There has been increasing interest in CMs, with many reports on phocomelia due to thalidomide and on German measles syndrome. 5. Affected individuals suffer from serious physical, mental and social consequences of their handicap. This influences families, community in terms of quality of life, need for services and health care costs.
CMs are etiologically considered as the outcome of interaction between host and environment. This indicates the importance and urgency of epidemiological investigations in this field.

METHODS
It was a retrospective observational study. Ethics approval was obtained.
The cases will be selected from those attending the antenatal O.P.D. and those admitted in wards of OBGYN Dept., GMH who delivered congenitally malformed baby dated from August 2013 to July 2014. A detailed history taken, examination done and relevant investigations were done.

Inclusion criteria
Inclusion criteria were patient with antenatally USG diagnosed congenital malformation; patients delivering congenitally malformed babies in labor room; all high risk mothers who can have congenitally malformed baby; all fresh and macerated still births with risk of congenital malformations.

Exclusion criteria
Exclusion criteria were babies aged more than 1 week.

RESULTS
The present study includes 9014 women who delivered babies over a period of 1 yr. among them, 110 babies had CMs. In the present study, the incidence of CMs at birth was found to be 1.22% (110).
In the present study, Incidence of CMs were more in still births (8.17%) than live births (1.02%) and this distribution was found statistically significant.
The study shows, maximum women with congenital malformations were in the age group of >40 years (8.33%), <20 yrs were 5.88% and least were seen in the age group of 31-40 yrs (0.42%). The distribution was found statistically significant (p=0.000, X 2 =23.173).

DISCUSSION
During this study, total deliveries were 9014 and total CMs were 110. The incidence of CM at SGMH and associated hospitals, Rewa was 1.22%, which is similar to incidences 1.21% and 2.2%. 17,18 In 2014, Basavanthappa et al, did a study between 2012 and 2014, reported that incidence of malformations among live births 2.72% whereas it was 17.33% among still born babies, which is in concordance with this study which shows CMs were more in still births (8.17%) than live births (1.02%). 19 In the present study, maximum women who delivered babies with CMs were in the age group of >40 years (8.33%), <20 yrs were 5.88%, 21-30 yrs age group had 1.40% and least in 31-40 yrs (0.42%) age group. Similar to a study conducted by Lisa on CM. 20 In the present study, CMs were more common in Muslim religion (3.41%) than in Hindu religion (1.15%). Similarly Dr. Chowdhury found that most of the respondents were Muslims (91%); followed by Hindus (6.4%); Christians (1.5%) and Buddhists (0.4%). 21 In the present study, CMs were seen more in multigravida (1.64%) than primipara (0.94% In the present study, 1.82% were on AntiEpileptics (phenobarbitone and phenytoin) and 1.82% were on antihypertensives (name of antihypertensive not known), 3.64% were on Oral Hypoglycaemic Drugs, 0.91% was on NSAID, 6.36% were on unspecified medication, 8.27% women did not know if they were taking any medication, 78.18% did not report of taking any drugs or medications during pregnancy.
Dr. Chowdhury also interrogated the women about drug intake and found 75.3% did not report of taking any medications during pregnancy. 14.6% did not know if any medications were taken during pregnancy; 3.0% reported of taking antihypertensive drugs; 2.6% reported of taking antibiotics but could not specify the name of antibiotics; 2.2% took some kind of medication but were unable to specify; 1.1 % reported of taking oral hypoglycemic drugs; 0.7% took antiepileptic drugs; and 0.4% took some kinds of anti-asthmatic drugs. 21 In the present study, maximum number 27(24.55%) of CMs were of CNS. 21  The high CNS anomalies (Figure 1 and 2) could be explained by lack of foods fortified with folic acid, very low periconceptional use of folic acid and poor dietary intake of foods rich in folic acid like vegetables due to poor appetite and nausea occurring in pregnancy.

CONCLUSION
During this century, as a result of the improvements in hygiene and health care, there has been a steady decline in the contribution of environmental factors to diseases, communicable diseases and malnutrition have changed the disease spectrum in general population. Hence, as a result, congenital and hereditary diseases have been recognized as being the major health burden.
Various factors, which influence the frequency of congenital malformations are, maternal age, drug intake, fever, alcohol consumption, h/o abortions, consanguinity and genetic abnormalities in the parents or the gametes. Therefore, it can be concluded that many malformations arise because of the interplay of genetic, environmental and multifactorial factors.
Some environmental factors may be causing genetic damage in the gametes of the parents, alter the tissue growth and interfere with the cellular differentiation, causing malformations in the newborns. The stress imposed on the parents may be reduced considerably by understanding the causes of the malformations and adopting the management strategies outlined for the prevention or reduction of congenital malformations.
CMed neonates often require intensive, multidisciplinary medical treatment, which is always costly and frequently life threatening. However despite massive advancements and refinements in the study of congenital anomalies, the magnitude of the problem still to this day causes significant health impacts.
We hope that observations of our study will be clinically useful to physicians and obstetricians enabling them to optimise treatment modalities for pregnancies with CMs in order to achieve a healthy mother and a healthy baby.