
































Original Article Childhood AsthmA And its AssoCiAted FACtors Among Children

J Nepal Paediatr Soc | VOL 42 | ISSUE 02 |MAY-AUG,  202236

Original Article

DOI: 103126/JNPS.V4113

Shristi Shakya,1 Kalpana Upadhyaya Subedi,2 Megha Mishra3 
1Medical Officer,Department of Neonatology, Paropakar Maternity and Women’s Hospital, Thapathali, Kathmandu, 
44600, Nepal
2Professor and Head of Department of Neonatology, Paropakar Maternity and Women’s Hospital, Thapathali, Kathmandu, 
44600, Nepal
3Registrar, Department of Neonatology, Paropakar Maternity and Women’s Hospital, Thapathali, Kathmandu, 44600, 
Nepal.                                                                                      

Incidence of Birth Defects among Live Born Neonates at Tertiary Level 
Maternity Hospital in Nepal

Introduction: Birth defects are structural and functional anomalies that present 
before, at birth, or later in life. This study aimed to find out total incidence, type 
of structural birth defects in live born babies in Nepal. 

Methods: The study was conducted at a tertiary level maternity hospital in 
Nepal from 14 April 2018 to 13 April 2019. Data was collected on online 
Newborn Birth Defect data base developed by WHO South- East-Asia Regional 
Office. All live born babies with external and internal birth defects confirmed 
by radiographic, ultrasonography and echocardiography until seven days 
of life were included. Ethical approval was obtained from Institutional Review 
Committee of hospital. 

Results: Total of 21,564 live babies were delivered during one-year study 
period. Out of these, 220 (1.02%) had one or more birth defects. Number of 
male babies {130 (59%)} were more than female {89 (40.9%)}. 176 (80%) 
babies with the malformation were born to mother within age group 20 to 35 
years. Of the total 220 babies with birth defects, 197 (89.5%) had isolated 
malformations and remaining 23 (10.4%) had sequence malformations. The most 
frequent malformations involved cardiovascular system 125 (56.8%) followed 
by gastrointestinal system 37 (16.8%), musculoskeletal system 34 (15.4%) and 
central nervous system 18 (8.1%).

Conclusions: Incidence of overall birth defects in this study was found to be 
1.02% in which cardiovascular system anomalies was the most common followed 
by gastrointestinal, musculoskeletal and central nervous system anomalies.

Abstract

*Corresponding Author
Shristi Shakya
Medical Officer, 
Department of Neonatology, 
Paropakar Maternity and Women’s 
Hospital, 
Thapathali, Kathmandu, 44600, Nepal.
Email: rijenshristi@gmail.com 

Article History 
Received On : 27 Nov, 2021
Accepted On : 18 Dec, 2022
 

Funding sources:  None

Conflict of interest: None

Keywords: Anomalies; Birth defects; 
Congenital malformations; Newborn

Online Access

DOI:
https://doi.org/10.3126/jnps.v42i2.41093

Introduction
Birth defects refer to structural or functional anomalies that present before or, at birth 
or later in life.1 Birth defects can occur during any stage of pregnancy but most occur 
in the first trimester.2 These defects can be caused by genetic abnormalities and / or 
environmental exposures, although the underlying etiology is often unknown. Birth 
defects can be isolated or present in a characteristic combination or pattern that may 
affect one or more organ systems.1

Structural birth defects are related to a problem with body parts. Range of such defects 

Copyrights & Licensing © 2022 by author(s). This is an Open Access article distribut-
ed under Creative Commons Attribution License (CC BY NC )



J Nepal Paediatr Soc | VOL 42 | ISSUE 02 |MAY-AUG,  2022 37

Original ArticleBirth Defects at tertiary Maternal hospital 

includes neural tube defects (NTDs), cleft lip with or without 
cleft palate, heart defects, and abnormal limbs. Functional birth 
defects are related to a problem in working of a body part or 
system. These often lead to developmental disabilities and can 
include disorders such as: muscular dystrophy, phenylketonuria, 
loss or impairment of vision and hearing. Structural birth defects 
are clinically obvious at birth whereas functional defects may 
only be diagnosed later in life. For example, bleeding disorders 
like hemophilia is usually not clinically obvious until infancy or 
childhood. Birth defects not only plays a major role in fetal loss, 
but also contribute significantly to pre-term births, childhood and 
adult morbidity.3 The treatment and rehabilitation of these children 
with birth defects is very costly with considerable repercussions 
on their families. Hence the need to identify causative and risk 
factors to prevent them early, where possible.3

Knowing the incidence of birth defects is important for planning 
and implementing programs to reduce morbidity and mortality 
resulting from it. Realizing the paucity of incidence of the birth 
defect studies, this study is being commenced. The aim was to 
estimate the total incidence, types of structural birth defects in 
live newborns delivered at the tertiary level maternity hospital of 
Nepal. This data can be used as baseline to analyze burden of 
the problem and prevent using existing opportunities.

Methods

The retrospective, institution based study was conducted in tertiary 
level maternity hospital of Nepal, from 14th April 2018 to 13th 
April 2019. All the newborn babies delivered in the institution 
during this period were examined by paediatricians. Thorough 
physical examination was done to identify any birth defects. All 
live born babies with external birth defects identified at birth or 
before discharge from the hospital were included. Those babies 
with suspected internal defects were sent for radiography, 
ultrasonography or echocardiography confirmation. Internal 
defects confirmed within seven days of life were included. Babies 
who were still-birth and elective termination of pregnancy for fetal 
anomaly (ETOPFA) were excluded in this study. Data is being 
collected on online system of World Health Organization- South 
East Asia Regional Office - New Born Birth Defect (WHO- SEARO- 
NBBD) data base since 2014. Each case meeting the inclusion 
criteria were filled in separate performa. The major birth defects 
were classified according to the International Classification of 
disease version- 20 (ICD-10) for all birth defects observed by 
using the Birth Defects atlas.4 Ethical approval was obtained from 
Institutional Review Committee of the hospital.

Results
During study period, a total of 21,564 live infants were delivered. 
Of these newborns, 220 (1.02%) were found to have one or more 
birth defects. i.e the prevalence of birth defects on this study was 
10 per 1000 total live birth.

As shown in table 1, the study showed that there were more male 
babies (59%) with birth defects than female (40.9%). Among the 
birth defect newborn babies, the majority (176 ie 80%) of the 
cases were born to mothers age group 20 to 35 years (Table 

2). The incidence of anomaly was found higher among the full 
term live births than preterm deliveries. Of the total 220 babies 
with birth defects, 197 (89.5%) had isolated malformations and 
the remaining 23 (10.4%) had sequence malformations. The 
most frequent malformation involved was cardiovascular system 
125 (56.8%) followed by gastrointestinal system 37 (16.8%) 
musculoskeletal system 34 (15.4%) and central nervous system 
17 (8.1%). Distribution of birth defects in the study group shown 
in Table 3.

Table 1. Birth defects distributed according to sex and mode of 
delivery 

 Total live birth 21564

Total live birth defects (1%) 220

Sex

 Male (59%) 130

 Female (40.9%) 90

Mode of delivery

 Normal delivery (51.3%) 113

 Cesarean delivery (48.1%) 106

 Instrumental delivery (0.45%) 1

Table 2. Frequency of birth defects classified according to 
maternal age and week of gestation

Maternal age Number of cases

years 20 < 30 (13.6%)

years 35 - 20 176 (80%)

years 35 < 14 (6.3%)

Week of gestation (WOG)

< 37 WOG 77 (35%)

< 37 WOG 143 (65%)

Table 3. Birth defects classified according to anatomical system

 System Frequency (220)

 Cardiovascular 125 (56.8%)

Central Nervous 18 (8.1%)

 Gastrointestinal 37 (16.8%)

Genitourinary 17 (7.7%)

 Musculoskeletal 34 (15.4%)

Others 18 (8.1%)

 

Discussion
The incidence and types of birth defects differ from one country 
to another and even in same country from one region to another. 
Globally if we look at it, as per March of Dimes estimates, every 



Original Article Birth Defects at tertiary Maternal hospital 

J Nepal Paediatr Soc | VOL 42 | ISSUE 02 |MAY-AUG,  202238

year eight million children worldwide are born with a serious 
birth defects due to genetic or environmental causes.5 EUROCAT 
recorded a total prevalence of major birth defects of 23.9 per 
1000, birth for 2003-2007, in which 8% were live birth.6  The 
World Health Statistics annual birth data of 2010 reports the 
estimate would be 9.78 million children.7  

In Nepal, children born with birth defects annually is 59.9 
prevalence per 1000 live births.8  In our study incidence of birth 
defects in neonate (1.02%) was found significantly higher than 
previous studies done at Maternity Hospital (0.36%),9 Western 
Regional Hospital ( 0.42%),10 Patan Hospital (0.81%),11 combined 
12 hospitals of Nepal (0.58%),12 but similar to Dhulikhel Hospital 
(1.1%)13 and Sarlahi (1.1%).14 The discrepancy could have been 
resulted because of increased awareness among hospital staff 
about birth defects so that they examine the baby to look for 
anomalies and also for the increased facilities for investigations 
to detect internal defects. However, while comparing congenital 
malformation with neighbor countries like India (1.53%), Egypt 
(2%), Brazil (2.2%), Ethiopia (1.25%), these countries have 
slightly higher prevalence than our county.15-18  This may be due to 
their cohort studies allows the collection of more information which 
are manifested later in life than document-based retrospective 
studies.19

In the present study, male infants were significantly higher with 
congenital anomalies than females. This observation agrees with 
the findings of studies conducted in Maternity Hospital,9 Western 
Regional Hospital,10 Dhulikhel Hospital13 and at South India.20  
This could be due to X-linked recessive factor or Y-linked genetic 
basis.20

According to several literatures, extremes of ages were found to 
be associated with birth defects. Young age < 20 years21 and / 
or advanced maternal age < 35 years.22-24 However, results of our 
studies was not consistent with all of these findings. The incidence 
of malformation was higher in mother age group 20 to 35 years, 
which is similar to studies done at Patan Hospital,11  South India 
20 and in Bradford study.25 This could be because this range of 
age is the common child bearing age group in our country. 
Also differences in study design, case definition, and potential 
confounders may play a role in this discrepancies.26

Birth defects encompass a wide array of structural and functional 
abnormalities that can occur in isolation (i.e. single defect) or as 
a group of defects (i.e.multiple defects). It is generally estimated 
that around 14% of babies are born with a single minor defects, 
around 2 to 3% have a single major defects and 1% of neonates 
have multiple defects.6 Those babies with cleft lip and palates, 
Down’s syndrome or babies with meningocele with hydrocephalus 
are included in isolated defect and with multiple birth defects are 
included in multiple defects in our study.

The most prevalent birth defect in the current study was 
cardiovascular system. This may be because of availability of 
echocardiography facility in the hospital for last one year where all 
newborn with suspected congenital heart disease (CHD) undergo 
echocardiography examination early so that they are diagnosed 
within seven days of life. CHD is most prevalent global trend of 
birth defect. Since past 15 years, 1.35 million yearly newborns 
are recorded with CHD. Asia reported the highest CHD birth 
prevalence, with 9.3 per 1,000 live births.27 Another multiethnic 
birth cohort study done in Brandford, UK also reported CHD as the 

most common anomaly in newborn in UK.25

There are several limitations in this study. Since, this is a 
retrospective study, getting complete information and avoiding 
biases were challenging. In our setting due to lack of karyotyping 
and metabolic screening were not able to include chromosomal 
and metabolic abnormalities which may have lead to under 
representation of disorders. The sample size is less and only 
represents one tertiary center.

Conclusions
Incidence of overall birth defects in this study was found to be 
1.02% in which cardiovascular system anomalies was the most 
common followed by gastrointestinal, musculoskeletal and central 
nervous system anomalies. The incidence and types of congenital 
malformation can differ from one country to another and even in 
the same country from one region to another.

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