OCCURRENCE OF CONGENITAL ANOMALIES AND GENETIC DISEASES IN A POPULATION OF GHAZVIN PROVINCE, IRAN: A STUDY OF 33380 CASES

Original Article
OCCURRENCE OF CONGENITAL ANOMALIES AND
GENETIC DISEASES IN A POPULATION OF GHAZVIN
PROVINCE, IRAN: A STUDY OF 33380 CASES
Movafagh A1, Z Pear Zadeh2, M HajiseyedJavadi3,
FM Mohammed4, Ghaderian SMH5, Heidari MH6,Ghasemi Barghi R7

ABSTRACT
Objectives: The purpose of this study was to determine the incidence of congenital and genetic
anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin
Province.
Methodology: A cross sectional study was performed between 2000- 2004 on 33380 children from
infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies
was elaborated by reviewing pedigree of family population screening, genetic records of family
data, routine tests such as application of molecular and karyotype and other essential
information have been approached.
Results: In total, the more frequent malformation associated congenital anomalies among our
patients was inborn error of metabolism (7.18%) followed by disorder of congenital hearth
defects (6%).
Conclusion: We suggest a possible role of various factors such as different geographical may
influence dissimilarities between present study and other population. Also the necessity of
particular attention and emphasize on special screening program that helps to identify early
stages of genetic and congenital malformation. These results together provide information to
physicians and genetic counselors to realize contribution of congenital abnormalities and setting
priorities of screening individual cases
KEY WORDS: Congenital abnormality, Prevalence, Population, Iran distribution, ethnic, different
habitual diet and socio - economic differences.
Pak J Med Sci January - March 2008 Vol. 24 No. 1 80-85
INTRODUCTION
family history and genetic counseling remains
of paramount importance.1
Genetic and congenital diseases are almost
Genetic and congenital abnormalities are
always serious, incurable, a number of these
more than what is generally appreciated and
diseases are treatable, and in some cases, their
are the cause of significant morbidity and
clinical therapeutic intervention and study of
mortality in pediatrics. With decreasing
Correspondence
incidence of fatal infections diseases,
Dr. Abolfazl Movafagh, PhD
congenital anomalies would be one of the main
Associate Professor of Medical Genetics,
causes of infants mortality in future. Large
Department of Medical Genetics,
Shahid Beheshti Medical University,
systematic studies of genetics and congenital
Evin Ave, Tehran - Iran.
abnormalities from Iran are not available.
For details of authors see Page No. 85
Hence, we investigated large heterogeneous
E mail: movafagh_a@yahoo.com
populations of paediatric patients to determine
* Received for Publication:
May 28, 2007
the current prevalence of genetic and
* Revision Received:
December 19, 2007
congenital anomalies among our
* Revision Accepted:
December 25, 2007
populations.
80 Pak J Med Sci 2008 Vol. 24 No. 1 www.pjms.com.pk

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Congenital anomalies and genetic diseases
Table-I: Comparative occurrence of
Table-II: Comparative occurrence of disorder
Chromosomal abnormalities.
of in born error of etabolism.
Diagnosis/Disorder
M
F
Cases
%
Abnormalities
M
F
Cases
%
Mental Retardation
3
3
6
0.20
Hypercalcemia
41
20
61
2.00
Fragile X syndrome
1
-
1
0.02
Hypocalcemia
38
23
61
2.00
Down’s syndrome
21
14
35
1.00
Cholesterolemia
24
3
27
0.90
Wolf Hirschhorn
1
-
1
0.20
Galactosemia
2
-
2
0.06
Total
26
17
44
1.3
MPS
8
4
12
0.60
Tyrosiemia
1
-
1
0.02
PATIENTS AND METHODS
PKU
4
3
7
0.20
Favism( G6PD)
14
10
24
0.70
A retrospective cross sectional study of
Hypourecemia
10
7
17
0.50
minor and major anomalies was encountered
Acidosis
7
2
9
0.20
on 33380 patients with hospital based registry
Total
149
72
221
7.18
from newborn infant to age 8 years of both
sexes, between 2000-2004 in the university cen-
tive occurrence of minor and major anomalies.
ter of Genetic division, Ghods major Pediatric
SPSS 11.5 a leading worldwide provider of
hospital. The hospital was chosen as it is a
predictive analytics software ,delivers more
university referral major hospital and provides
accurate analytical results and enhanced data
emergency services to the large district of the
management which enable users to retrieve
province. Demographic information and clini-
and format data faster and easier.
cal findings at birth were also collected from
Kosar maternal and newborn hospital records
RESULTS
and from the parents at the initial evaluation
This paper presents, the results, frequency
of the patient.
and analysis of congenital malformation and
Ghazvin city is located about 100 km away
genetic diseases of 33380 children from infancy
from Capital and surrounded by many facto-
to age 8 years over a consecutive period of four
ries. Also heterogeneity phenomena is being
years. The outcome of clinical and laboratory
established here. The precise and confirmed
features observed in our patients are summa-
diagnosis of diseases and in proband was sup-
rized in Tables I-X. As is evident, the preva-
ported by reviewing pedigree of family, includ-
lence of CA was 2.9% or 29.4/1000 (902 cases)
ing genetic records of family data, population
and the prevalence of CA was higher in male
screening, the mode of inheritance, assessment
(539 cases) than female (363 cases). The more
of various expertise and special interests of the
frequent conditions among our patients were
investigators, routine tests, ELISA, AFP, uri-
noticed for disorders of amino acid metabolism
nary amino acids were determined by chro-
(7.18%) followed by congenital hearth defects
matography and various kits, application of
(6%). Down’s syndrome were found more fre-
karyotype (High Resolution) with banding
quent (1%) among chromosomal defects in
pattern, routine ultrasonography examination
Table-I. The prevalence of cholesterolemia was
ecocardiography and other essential informa-
highest among metabolic disorders in (Table-
tion have been collected. A classification sys-
II). Rates of CNS anomalies were estimated to
tem was introduced to divide diagnosis into
be from 0.12% (Spina bifida) to 1.10% (micro-
different categories by exhibiting seven tables.
cephaly) Table-III. The occurrence of cleft pal-
The rates of malformation and disease were
ate (2.5%) was more than cleft lip (1.1%) as
calculated per 1000 patients.
demonstrated in Table-IV. The highest rate for
The sorted patients charts, checklist and data
anomalies of (Table-V) was that for Hypospa-
were analyzed by SPSS (version 11.5 Inc. USA)
dias (1.40%) followed by Cryptorchidism
to extract the frequencies, rates and compara-
(Table-VI). This study includes 33 patients with
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Abolfazl Movafagh et al.
Table-III: Comparative occurrence of Central
Table-IV: Comparative occurrence of
Nervous System (CNS)
Cleft lip and Palate
Anomalies
M
F
Cases
%
Anomalies
M
F
Cases
%
Meningomyelocele
8
9
17
0.50
Cleft Lip
23
14
37
1.1
Anencephaly
4
3
7
0.20
Cleft palate
45
32
77
2.5
Omphalocele
13
5
18
0.50
Total
68
46
114
3.4
Spinabifida
4
-
4
0.10
Hydrocephaly
13
8
21
0.60
DISCUSSION
Microcephaly
20
17
37
1.10
Cerebral palsy
8
8
16
0.50
Based on our findings, the prevalence rate of
Epilepsy Seizures
5
4
9
0.26
CA was 2.9%. The prevalence rates of present
Total
75
54
129
3.76
findings on CA are more compatible to studies
with four teaching Hospitals in Tehran (2.3%).2
sensory disorders; they consisted of hereditary
Comparison of international frequency on
deafness (0.70%) and blindness (0.30%).
CA to our results 2.9% (29.4/1000) yielded as
Hirschsprung,s diseases exhibit highest rate
follow; in the UAE 10.5/1000),3 in Bahrain
(1%), esophageal atresia (0.75%),
2.7%,4 in Lebanon 16.5/1000,5 in Turkey 1.1%,6
Laryngomalacia (0.23%), Gasteroschisis
In black South Africa 11.9/1000,7 in Russia
(0.14%) and anal atresia (0.23%) were the
1.23%-1.5%,8 in China 11.5/1000,9 in India
other disorders including thorax and abdomi-
21.1/1000.10
nal anomalies in (Table-VII). Among 27 patients
As in present study, the prevalence rate of
which suffered from hematological disorders,
mental retardation and chromosomal defects
occurrence of thalasemia minor (0.40%) and
revealed 1.3% per 1000 live births (Table-I).
Von Willebrand disease were shown with high
Other study reported from Arak Medical Uni-
and low frequency respectively (Table VIII).
versity has shown significant relationship be-
Furthermore other disorders, such as congeni-
tween chromosome aberrations and MR with
tal hearth defects (6%0), Waardenburg syn-
Down’s syndrome.11 Furthermore, in the cur-
drome (0.02%), Tubers Sclerosis (0.05%) and
rent situation in India the top three disorders
Vater association (0.05%) included 207 patients
are identifiable syndromes (12%), chromosomal
exhibited in Table-X. The results were double
aberration (11.3%) and mental retardation
checked with the both hospital registration
(11%).12
information related to the study period.
The world wide prevalence of Tyrosinemia
is approximately 1:100,000.13 In our popula-
Table-V: Comparative occurrence of external
genital anomalies and disorder of gonadals
tion here (Table-II) the rate (0.02% per 1000)
and internal reproductive ducts.
of Tyrosinemia are lower than the rest of the
Disorders
M
F
Cases
%
world. The study of hypocalcemia was per-
formed on 153 neonatal and 63 newborn from
Abnormalities
17
-
17
0.50
Shiraz.14
in testis
Hypospadias
47
-
47
1.40
Some of the rates of anomalies of the central
Cryptorchidism
21
-
21
0.70
nervous system such as Cerebral Palsy (CP)
Epispadias
2
-
2
0.05
Bladder extrophia
1
-
1
0.02
Table-VI: Comparative occurrence
Renal Urinary
4
-
4
0.01
of sensory disorders
tract
M
F
Case
%
Turner
-
4
4
0.01
syndrome
Hereditary
13
11
24
0.70
Ambiguous
6
5
11
0.5
deafness
genitalia
Blindness
4
5
9
0.30
Total
98
9
107
3.3
Total
17
16
33
1.00
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Congenital anomalies and genetic diseases
Table-VII: Comparative occurrence of thorax,
Table-VIII: Comparative occurrence of
respiratory and abdominal anomalies
hematological disorders
Anomalies
M
F
Cases
%
M
F
Case
%
Esophageal
16
9
25
0.75
Thalasemia minor
8
6
14
0.40
atresia
Thalasemia major
4
2
6
0.20
Laryngomalacia
5
3 0
8
0.23
Hemophilia
6
--
6
0.20
Hirschsprung’s
17
7
34
1.00
Von-Willebrands
1
--
1
0.02
disease
disease
Gastroschisis
3
2
5
0.14
Total
19
8
27
0.82
Anal Atresia
6
2
8
0.23
Total
47
23
70
2.35
considerably. As there is no established hear-
diagnosed in the present investigation with
ing loss screening program in Iran, the reason
0.5% per 1000 (Table-III) is lower than most
for these discrepancies is not completely clear,
studied with 2 to 3 per 1000 live birth preva-
but may reflect to different unknown
lence.15 The prevalence of cleft lip and palate
etiological factors.
in different studies are, in the United States 1
The prevalence of several visual impairment
per 700,16 China 6.11 per 10,000,17 Korea 1.81
were reported with different range (2.3%-8%)
per 1000,18 Brazil 0.19 per 1000,19 Ireland 1.14
in childhood.28-31 The different incidence of
per 1000,20 1.03 per 100021 and 0.88 per 1000
blindness in this study (0.3%) in Table-VI and
in Iran.22 The rate of cleft lip and palate found
other studies may suggest a genetic suscepti-
in our population and other studies appear
bility, environment factors or both.
with approximately similar frequency.
Skeletal and muscle, neuromuscular disor-
Hearing loss prevalence rates found in
ders is the commonest congenital generalized
various studies range from 1 to 3 cases per 1000
bone malformation at five teaching hospitals
children23 and in high risk neonates is from 5
in Tehran,1 India,12 Bahrain,4 black South
to 50 in 1000 live births.24 In the United States
African,7 Denmark.32 The rate of skeletal dys-
1.4 to 3 per 1000.25 European rates 1.4 to 2.1
plasia (0.33%) investigated here (Table-IX)
per 1000.26 In recent study performed in na-
were found to be less frequent than generally
tional congress of genetic disorders at Tehran,
assumed.
1033 patients with hearing impairment have
Various studies of Congenital Hearth Disease
been reported.27 The data of hearing deafness
(CHD) in live born infants of 28 centers from
yielded here (Table-VI) with 24(0.7%) patients.
different countries yielded 4.05 to 10.2 per
The percentage of hearing impaired found vary
100033 which is not similar to present investi-
Table-IX: Comparative occurrence of skeletal and muscle, neuromuscular disorders
M
F
Case
%
Marfan syndrome
1
-
1
0.02
Osteogenesis Imperfecta
2
-
2
0.05
Achondroplasia
1
-
1
0.02
Spondyloepiphysial dysplasia
-
-
1
0.02
Polydactyly
4
2
6
0.05
Ectrodactyly
1
-
1
0.02
Meckel syndrome
1
-
1
0.02
Pierre Robin syndrome
3
1
4
0.05
Amyotrophic lateral sclerosis
1
1
2
0.05
Duchene muscular dystrophy
6
-
6
0.20
Total
20
5
25
0.5
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Abolfazl Movafagh et al.
Table-X: Comparative occurrence
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Authors
1.
Movafagh A, PhD,
Associate Professor of Medical Genetic,
Shaheed Beheshti Medical University,
Tehran - Iran.
2.
Z Pear Zadeh, MD,
Assistant professor of Pediatrics,
Ghazvin Medical University,
Ghazvin - Iran.
3.
M Hajiseyed Javadi,
General Practitioner,
4.
FM Mohammed, PhD,
Assistant Professor of Allied Health Science,
Kuwait University,
5.
Ghaderian SMH,
Assistant Professor of Medical Genetics,
6.
Heidari MH,
Associate Professor of Medical Anatomy,
5,6: Shaheed Beheshti Medical University,
Tehran - Iran.
7.
Ghasemi Barghi R,
Associate Professor,
Ghazvin Medical University
Ghazvin - Iran.
Pak J Med Sci 2008 Vol. 24 No. 1 www.pjms.com.pk 85

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