Abstract
We studied two thousand ,three hundred and twenty four newborns born a tertiary care hospital ,for congenital malformations. Out of these 1251 were males ,1071 were females and two babies had inderminate gender.We found 56 Congenital malformations in 45 newborns. Rate per 1000 live births was found to be 24.Rate of occurrence was higher with higher parity, higher maternal age, consanguinity, and multiple pregnancies.
Introduction
Congenital malformations are responsible for still births, neonatal mortality and morbidity. By definition the Congenital Malformations include structural defects. However in the 2012 modification WHO has included Inborn Errors of Metabolism in the spectrum.(1)The Causative factors of birth defects are diverse-These include genetic abnormalities,teratogens in environment, maternal malnutrition, Intrauterine Infections.(2) Neonatal mortality ,Infant mortality are indicators of nations health.(3)In the past, these were attributed to infections (4),however with the availability of newer antibiotics, better asepsis and preventive techniques the infectious cause of mortality is replaced by Congenital defects. Unfortunately this general statement may not be applicable to a progressive nation like ours where the NMR and IMR are still higher than that of developed countries. About 2% newborn infants have major anomalies. This incidence will be to the tune of five percent if anomalies manifesting later are also taken into consideration. This is an important issue needing research due to its frequency not to mention of their devastating effect on affected families.Their have been tremendous advances in the field of Fetal medicine ,Obstetrics, Perinatology ,but they need to reach out to peripheries. Additional efforts must be put to improve the health of our children. A better understandingand increased knowledge of the epidemiology of children with birth defects will help in making effective policies.Thus this study was taken up,to find the epidemiology of birth defects in a semi –urban area of Pune.
Aims and Objectives
1.To determine the Pattern and proportion of congenital anomalies in live newborns.
2.To study maternal and perinatal risk factors associated with congenital malformations .
Materials and Methods
Study Design: Cross-sectional descriptive study This study was carried out in a tertiary care hospital in semi urban area of Pune. Inclusion criteria All the live born babies born in this hospital during the period of one year from August 2012to July 2013were included. Exclusion criteria: All the babies, whose parents; not give consent to be included in the study, were excluded. The newborns were examined for the presence of congenital anomalies and mothers were interviewed for socio-demographic variables.
Results
There were 2324 live births ,1251 male babies and 1071female babies .In 2 babies gender was inderminate.56 malformations were recorded in 45 newborns.Rate per 1000 live births came out to be 24.Table I depicts the Patterns of congenital malformations.
Table I:Congenital Defects Patterns
System
|
Type
|
Number of malformations
|
CNS
|
Meningocoele
|
2
|
|
Meningomyelocoele
|
4
|
|
Hydrocephalus
|
3
|
|
Microcephaly
|
3
|
CVS
|
Hypoplastic Heart disease
|
1
|
|
Patent Ductus Arteriosus
|
1
|
|
Dextrocardia
|
1
|
Genito-Urinary System
|
Hypospadias
|
1
|
|
Ambiguous Genitalia
|
2
|
|
Ectopic Vesicae
|
1
|
|
Polycystic Kidneys
|
1
|
|
Renal Hypoplasia
|
1
|
Gastrointestinal System
|
Cleft lip
|
1
|
|
Cleft Palate
|
1
|
|
Tongue tie
|
1
|
|
Diaphragmatic Hernia
|
1
|
|
Exomphalos
|
2
|
|
Imperforate Anus
|
1
|
|
Fibromatous gum hypertrophy
|
1
|
|
Sigmoid perforation
|
1
|
|
Volvolus
|
1
|
Musculoskeletal System
|
Polydactyly- Unilateral
|
4
|
|
Bilateral
|
2
|
|
Congenital Talipus Equino Varus –Unilateral
|
2
|
|
-Bilateral
|
4
|
|
Pilonidal Sinus
|
1
|
|
Microstomia
|
1
|
|
Hypertrophy of Maxilla
|
1
|
|
Hypolastic foot
|
1
|
|
Arthrogryposis
|
1
|
|
Micropthalmia
|
1
|
|
Accessory auricle
|
3
|
|
Microtia
|
1
|
|
Capillary Hemangioma
|
1
|
|
Hairy neuvus
|
1
|
Total:56
Pattern Of Malformation According to Systems:
TableII:-
System
|
Numbers
|
%of Total Malformations
|
Rate/1000Live births
|
|
CNS
|
12
|
|
|
|
CVS
|
3
|
|
|
|
GIT
|
10
|
18.14
|
4.30
|
|
GUT
|
6
|
10.21
|
21.43
|
5.16
|
Musculoskeletal
|
17
|
30.32
|
5.34
|
1.24
|
Special Senses
|
6
|
10.21
|
4.30
|
|
Miscellaneous
|
2
|
3.57
|
0.86
|
|
Total
|
56
|
-
|
24
|
|
Table III Congenital malformations in relation to maternal age:
Age group(Years)
|
Total Births
|
Affected babies
|
%
|
< 14
|
2
|
0
|
0
|
15-19
|
340
|
10
|
2.94
|
20-24
|
977
|
25
|
2.56
|
25-29
|
598
|
6
|
1.04
|
30-34
|
276
|
3
|
1.09
|
35-39
|
97
|
0
|
0
|
40-44
|
12
|
0
|
0
|
>45
|
3
|
1
|
33.33
|
Table IV:Congenital Malformations in Relation to parity:-
Parity
|
Total Births
|
Malformed Babies
|
%
|
1
|
865
|
17
|
1.97
|
2
|
552
|
8
|
1.45
|
3
|
565
|
9
|
1.59
|
4
|
225
|
4
|
1.77
|
5
|
64
|
3
|
4.75
|
6
|
19
|
3
|
15.26
|
7
|
15
|
1
|
6.66
|
Table V:Malformations with respect to Birth Weight
Birth Weight
|
Total Number
|
%
|
Number of Malformations
|
%
|
>2.5Kg
|
1235
|
53
|
22
|
48
|
< 0r=2.5Kg
|
1090
|
47
|
23
|
51
|
Correlation with Ante-natal Factors:-
Anti natal Check Up(ANC) was done in34 mothers out of 45mothers,
One ANC in Hospital -2/34
Outside ANC -6/34
Antenatal Factors were present in 31.11% of Pregnancies. The breakup is as given below:--
Risk Factor
|
Number of cases
|
|
|
Toxemia of Pregnancy
|
2
|
VDRL positive at 3 months
|
1
|
Decreased fetal movements
|
2
|
Unstable Lie
|
1
|
Urinary Tract Infection
|
1
|
Conceived after infertility treatment
|
3
|
Abdominal pain, backache needing reatment
|
1
|
Hypertension on treatment
|
1
|
History of Spontaneous abortion
|
2
|
Consanguinity
|
14
|
Twins
|
17
|
VDRL=Venereal disease research laboratory test……Incidence of twin pregnancies in total was 0.74%,However in Congenitally malformed babies the incidence was 4.4%.
Discussion
We have, to large extent, been able to treat infections and nutritional deficiencies. With this improvement, Congenital malformations will soon become an important determinants of Infant mortality in the developing part of the world.(5) The pattern and prevalence of congenital anomalies may vary over time or with geographical location. This may reflect a complex interaction of known and unknown genetic and environmental factors which including socio-cultural, racial and ethnic variables.(6) With improved control of infections and nutritional deficiency diseases, congenital malformations have become important causes of perinatal mortality in developing countries like India.(7)
In the present study, the prevalence of congenital malformations in the newborns were 2.22%, which is comparable with the earlier studies from India, which reported incidence of 2.72% and 1.9%.[(8,9) In the study by Swain et al,2.5% was the incidence of Congenital defects (63 of 2517) of live born neonates.(5) The above results are similar to the results of European network of population-based registers for the epidemiological surveillance of congenital anomalies (EUROCAT) which were 2.4%,Jehangir et al. reported an incidence of 2.9%.
With regard to pattern of congenital anomalies in the study, the most common system involved was musculoskeletal system (33.2%), followed by gastro-intestinal tract (GIT) (15%), CNS (11.2%), genitourinary (10.5%), cardiovascular system (9.1%), skin (8.7%) etc., This was comparable with studies conducted by others.(10,5,11,12,13,14)
With respect to maternal age, age group of 45years and above 33.33% had babies with birth defects . Suguna Bai et al.(15) reported a higher incidence of malformation in the babies born to mothers aged over 35 years, whereas Dutta et al.(16) documented statistically insignificant association of increased maternal age and congenital anomalies. The mean maternal age (in years) of those with congenital
abnormality is 29 ± 5. Grag and colleague(17) also noted a high occurrence of congenital abnormality among women who are between 33 and 39 years of age.
Previous studies have reported significantly higher incidence of malformations among the multiparas.(18)Our result is consistent with this finding, which indicates a positive correlation between the birth order and the incidence of congenital anomalies. In this series lowest incidence(1.45%) was recorded in second gravid,,and maximum incidence in the sixth gravida mothers. Khanna and Prasad Mittal reported maximum number of malformations in third gravid mothers.
Consanguineous marriages are reported to play a major role in the occurrence of congenital malformations.(19) In the present study also, prevalence of malformed babies was more when born out of consanguineous marriages—37.77%, as also seen in studies from Kuwait, Arab and also India.(20)
Prenatal factors of significance were present in 31.11% of our cases. Toxemia of pregnancy,VDRL positivity,Unstable lie,Urinary tract infections, Induced Ovulation etc were seen as some of the pre-natal factors in our study.Certain maternal diseases may occasionally lead to increased risk of birth defects.(21) According to Ordonez et al.(22)diabetes mellitus, arterial hypertension, and hypothyroidism show a positive association with congenital malformation.
Conclusion
Congenital malformations are emerging as important perinatal problem .They contribute sizably to the perinatal mortality and morbidity.This has considerable repercussion on the mothers and the families.There is a high risk of recurrence of congenital malformations.However, there are no accepted preventive measures in developing countries like India.The implications are that , preventive measures this region are needed. Increasing awareness about maternal care during pregnancy, educational programs on congenital malformations and the consequences of consanguineous marriages need to be highlighted to decrease the incidence of congenital anomalies and their co-morbidities.
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Source(s) of Funding
Nil
Competing Interests
None