Research articles
 

By Dr. Neelam Deshpande , Dr. Maya Borle , Dr. Sr Agarkhedkar
Corresponding Author Dr. Neelam Deshpande
Dr.DY Patil Medical College,Hospital ,Department of pediatrics, Dr.DY Patil Medical College,Hospital - India 411018
Submitting Author Dr. Maya Borle
Other Authors Dr. Maya Borle
Department of Paediatrics,Dr DY Patil Medical College,Hospital and Research Centre ,Pune, Department of Paediatrics,Dr.DY Patil Medical College,Hospital &Research Centre - India 411018

Dr. Sr Agarkhedkar
Dr.DY Patil Medical College,Hospital,Department of Pediatrics, Dr.DY Patil Medical College ,Hospital - India 411018

PAEDIATRICS

Birth defects,Malformations,Prevalence

Deshpande N, Borle M, Agarkhedkar S. Title : Congenital Malformations: Patterns and Prevalence at Birth. WebmedCentral PAEDIATRICS 2015;6(10):WMC004988

This is an open-access article distributed under the terms of the Creative Commons Attribution License(CC-BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
No
Submitted on: 05 Oct 2015 05:34:41 PM GMT
Published on: 06 Oct 2015 02:57:16 PM GMT

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.

References


1.World Health Organization. Section on congenital anomalies. [Cited on 2012 Oct]. Available from:http://www.who.int/mediacentre/factsheets/fs370/en/

2.Tanteles GA, Suri M. Classification and etiology of birth defects. Pediatr Child  Health 2007;17:233-43.

3. Cassell CH, Golden L. Epidemiology as aguardian of children's health: translating   birth defects research into policy. Ann Epidemiol 2010;20:493-8.

4. Singh A, Gupta RK. Pattern of congenital anomalies in newborn: a hospital based  prospective study. JK Science 2009;2:34-6.

5. Swain S, Agrawal A, Bhatia BD. Congenitalmalformations at birth. Indian Pediatr 1994;31:1187-91.

6. Birch MR, Grayson N, Sullivan EA. AIHW Cat. No. PER 23. Birth Anomalies Series No. 1. Sydney: AIHW National Perinatal Statistics Unit; 2004. Recommendations for development of a new Australian birth anomalies system: A review of the congenital malformations and birth defects data collection.

7. Mohanty C, Mishra OP, Das BK, Bhatia BD, Singh G. Congenital malformations in newborns: A study of 10,874 consecutive births. J Anat Soc India. 1989;38:101–11.

8. Chaturvedi P, Banerjee KS. Spectrum of congenital malformations in the newborns from rural Maharashtra. Indian J Pediatr. 1989;56:501–7.

9. Taksande A, Vilhekar K, Chaturvedi P, Jain M. Congenital malformations at birth in Central India: A rural medical college hospital based data. Indian J Hum Genet. 2010;16:159–63.

10. Gupta RK, Singh A, Gupta R. Pattern of congenital anomalies in newborn at birth: A hospital based prospective study. Proceedings of the 42nd National Conference of Indian Academy of Pediatrics (Pedicon); Jan 6-9; Kolkata, India. 2005.

11. Tibrewala NS, Pai PM. Congenital malformations in the newborn period. Indian Pediatr. 1974;11:403–7.

12. Mishra PC, Baweja R. Congenital malformations in the newborns. A prospective study. Indian Pediatr. 1989;26:32–5.

13. Verma M, Chhatwal J, Singh D. Congenital malformations - A retrospective study of 10,000 cases. Indian J Pediatr. 1991;58:245–52.

14. Mathur BC, Karan S, Vijaya Devi KK. Congenital malformations in the newborn. Indian Pediatr. 1975;12:179–83.

15. Suguna Bai NS, Mascarene M, Syamalan K, Nair PM. An etiological study of congenital malformation in the newborn. Indian Pediatr. 1982;19:1003–7

18/

16. Dutta V, Chaturvedi P. Congenital malformations in rural Maharashtra. Indian Pediatr. 2000;37:998–1001.

17.Grag A, Canolly C, Hollier LM: Maternal age and malformations in singleton births. J Obstet Gynecol 2000, 96:701–6.

18. Mohanty C, Mishra OP, Das BK, Bhatia BD, Singh G. Congenital malformations in newborns: A study of 10,874 consecutive births. J Anat Soc India. 1989;38:101–11.

19. Hudgins L, Cassidy SB. Congenital anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, editors. Neonatal-Perinatal Medicine. 8th ed. Philadelphia: Mosby-Elsevier; 2006. pp. 561–81.

20. Mathur BC, Karan S, Vijaya Devi KK. Congenital malformations in the newborn. Indian Pediatr. 1975;12:179–83.

21. Taksande A,  Vilhekar K,  Chaturvedi P. Congenital malformations at birth in central india: a rural medical college hospital based data brief report .Indian journal  of human genetics . 2010 ; 16(3) : 159-163.

22.Ordσρez MP, Nazer J, Aguila A, Cifuentes L. Congenital malformations and chronic diseases of the mother. Latin American Collaborative Study of Congenital Malformations (ECLAMC) 1971-1999. Rev Med Chil. 2003;131:404.

Source(s) of Funding


Nil

Competing Interests


None

Reviews
1 review posted so far

Review of Congenital Malformations: Patterns and Prevalence at Birth
Posted by Ms. Shannon Marcum on 21 Nov 2016 08:47:38 PM GMT Reviewed by Interested Peers

Comments
1 comment posted so far

Please use this functionality to flag objectionable, inappropriate, inaccurate, and offensive content to WebmedCentral Team and the authors.

 

Author Comments
0 comments posted so far

 

What is article Popularity?

Article popularity is calculated by considering the scores: age of the article
Popularity = (P - 1) / (T + 2)^1.5
Where
P : points is the sum of individual scores, which includes article Views, Downloads, Reviews, Comments and their weightage

Scores   Weightage
Views Points X 1
Download Points X 2
Comment Points X 5
Review Points X 10
Points= sum(Views Points + Download Points + Comment Points + Review Points)
T : time since submission in hours.
P is subtracted by 1 to negate submitter's vote.
Age factor is (time since submission in hours plus two) to the power of 1.5.factor.

How Article Quality Works?

For each article Authors/Readers, Reviewers and WMC Editors can review/rate the articles. These ratings are used to determine Feedback Scores.

In most cases, article receive ratings in the range of 0 to 10. We calculate average of all the ratings and consider it as article quality.

Quality=Average(Authors/Readers Ratings + Reviewers Ratings + WMC Editor Ratings)