Volume 2, Issue 4 (October 2023)                   Health Science Monitor 2023, 2(4): 262-272 | Back to browse issues page


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Salesi M, Khaleghnejad Tabari A, Maracy M R. Study of the prevalence and associated factors of major congenital anomalies at birth in Shahreza County during 2016-2018. Health Science Monitor 2023; 2 (4) :262-272
URL: http://hsm.umsu.ac.ir/article-1-87-en.html
Professor of Epidemiology, Department of Epidemiology and Biostatistics, Faculty of Health, Isfahan University of Medical Sciences, Isfahan, Iran
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Introduction
Congenital abnormalities are developmental defects present at birth and can be classified into structural and functional types (1-5). These abnormalities can occur due to various factors, including single-gene disorders, chromosomal abnormalities, hereditary conditions, environmental factors, or specific nutritional deficiencies (5). moreover, racial and cultural differences contribute to variations in the prevalence of these disorders in different regions (6, 7). Structural abnormalities that are visible at birth are referred to as overt congenital abnormalities (8).
Congenital abnormalities account for 20% of infant mortality under one year of age and are a contributing factor to the deaths of 49,500 children worldwide. Additionally, 25% of hospitalizations in children are due to congenital abnormalities (9). Congenital abnormalities are divided into two categories based on their severity: major and minor. Minor abnormalities, also known as mild abnormalities, are observed in approximately 4% of the population, while major abnormalities or significant anatomical abnormalities affect an individual's life and normal functioning, requiring medical interventions. They encompass approximately 2% of all live-born infants with prevalent congenital abnormalities (7, 10, 11).
According to statistics from the World Health Organization (WHO), approximately 303,000 infants worldwide die within 30 days after birth due to congenital abnormalities (4). Generally, 3 to 5% of infants have detectable defects at birth (12). The prevalence of congenital abnormalities varies in different regions of Iran, with rates reported as follows: Dezful 2.3% (13), Isfahan 2.2% (14), Rasht 4.2% (15), Tehran 3.1% (16), Sabzevar 2.4% (17), Rafsanjan 2.9% (18), Bandar Abbas 3% (19), and Zanjan 5.5% (20). Meta-analysis studies in Iran between 1992 and 2014 reported a prevalence of 8.2%, and between 1986 and 2016, the prevalence was 3.2% (21, 22). In Chaharmahal and Bakhtiari province, the prevalence was 3.0% (23). Additionally, in Mashhad, it was 8.1% (7), in Ardabil 8.0% (3), in Isfahan 7.0% (24), in Tabriz 1.1% (25), and in Sistan and Baluchestan 8.1% (26). Outside of Iran, the prevalence of congenital abnormalities was reported as 2% in Europe (27), 2.0% in Turkey (28), 4.2% in Lebanon (29), and 6.8% in India (30).
Congenital abnormalities can result from genetic, environmental, or combined factors, and the financial burden of hospitalization and medical interventions for affected children places significant strain on healthcare systems and families (3). Known factors contributing to congenital abnormalities include genetic, environmental, and teratogenic factors such as maternal alcohol addiction, infections like rubella and toxoplasmosis, malnutrition, infections, drug use, and exposure to chemicals or radioactive materials (4, 31-33). Other factors like consanguinity, socio-economic factors, low income, maternal age, and newborn weight also increase the risk of congenital abnormalities (31, 34). The age of both parents (34), the number of previous pregnancies for the mother (35), and the mother's blood group (36) also play a significant role in the occurrence of major congenital abnormalities.
Identifying and preventing congenital abnormalities, rather than treating or rehabilitating disabilities resulting from such abnormalities, is cost-effective for societies due to the high expenses associated with treatment, uncertain outcomes, and the possibility of miscarriage or intrauterine death in severe cases (37, 38). Therefore, serious efforts to identify the effective factors associated with congenital abnormalities and their prevention can lead to improved health and well-being for future generations and averted social and economic burdens (26).
While numerous studies have been conducted on congenital abnormalities and related risk factors at the national and regional levels, no study on this subject has been found in Shahreza County. Hence, this study was conducted to determine the prevalence of congenital abnormalities at birth and some associated risk factors during the years 2016-2018 at Amir Al-Momenin Hospital in this county.
Materials & Methods
The present study was a cross-sectional study. The study population consisted of all pregnant women who gave birth in Amir Al-Momenin Hospital in Shahreza County in 2016 to 2018. The outcome of interest in this study was the presence or absence of major congenital anomalies in newborns, which was collected by the researcher using the information recorded in the mother and child records. According to the estimates made from the number of births in 2016 to 2018 in Amir Al-Momenin Hospital in Shahreza, 6,137 delivery records were available and were examined. Of these, 182 mothers were Afghan migrants and 2,041 mothers were residents of other neighboring counties in the province and sometimes other provinces, and only 4,516 records had the entry criteria for the study, including: A) Mother’s residence in Shahreza County, and B) All live births and fetal deaths and termination of pregnancy for any reason after 22 weeks of pregnancy. The records of all of them were reviewed and analyzed. The data required for this study included: parental information (mother’s age, parental consanguinity, mother’s blood group, number of previous pregnancies, and number of abortions) and infant characteristics (type of delivery, gestational age of infant, infant sex, birth weight, infant height at birth, infant head circumference at birth, year and season of birth, and presence or absence of congenital anomaly), which were collected by visiting Shahreza Hospital and by studying the paper records of mother and child carefully.
To recheck, the existing information for all those who had anomalies was matched with the records of Roming (neonatal ward) using the file number and date of birth of the infant, which was not found to be erroneous. In addition, the Excel data were re-examined, and infants who had congenital anomalies records should have at least one type of anomaly. The remaining data deficiencies that were not recorded in the mother and infant file were extracted from the family file of the individuals concerned by referring to the national Sib system, and if they did not have a family file, they were contacted by phone. The data were analyzed using SPSS software v.20. For quantitative variables, mean and standard deviation, and for qualitative variables, frequency distribution and percentage were used. Independent t-test was used to compare the mean of quantitative variables in two groups of normal and abnormal infants. Also, using multiple logistic regression model, factors associated with major congenital anomalies were calculated using odds ratio index. The confidence interval was 95.0 for odds ratio and significance level less than 0.05 was considered significant. The present research project was proposed to the Ethics Committee of Isfahan University of Medical Sciences and Health Services and was approved with the number IR.MUI.RESEARCH.REC.1399.738.
 
Results
In this study, a total of 4,516 records of mothers and neonates who were born in Amir Al-Momenin Hospital in Shahreza during 2016-2018 were investigated.
The descriptive statistics and frequency distribution of the study variables are shown in Table 1.
 

Table 1. Dispersion and central indices of quantitative variables of mothers who have given birth in the maternity ward of Amir Al-Momenin Hospital, Shahreza city, according to the years 2016, 2017, and 2018.
2018 2017 2016 2016-2018
Variable name
Median (min-max) Mean (SD) Median (min-max) Mean (SD) Median (min-max) Mean (SD) Number of missing data Median (min-max) Mean (SD)
(16-46) 28 (5.6) 29.5 (16-46) 29 (5.4) 29.2 (45-13) 29 28.7 77 (13-46) 28 (5.5) 29.1 Mother's age (years)
(24-42) 39 (1.8) 38.5 (22-42) 39 (1.9) 38.5 (22-42) 39 (1/2) 38.4 113 (22-42) 39 (4.6) 37.6 Baby age (weeks)
(630-4400) 3135 (488.8) 3098.4 (500-5320) 3160 (518.4) 3121 (420-4660) 3120 (509.7) 30.89.7 59 (420-5320) 3140 (506.9) 3102.2 Birth weight (grams)
(29-55) 49 (2.2) 39 (27-56) 49 (2.8) 48.4 (20-55) 49 (2.8) 5/48 76 (20-56) 49 (2.8) 48.5 Baby's height (cm)
(39.5-21.5) 34.5 (1.6) 34.4 (14-40.5) 34.9 (1.8) 34.4 (5/39-14) 5/34 (2.7) 4/34 77 (14-40.5) 34.5 (2.7) 34.5 Head circumference (cm)
(0-8) 1 (1.2) 1.1 (5-0) 1 (1) 1.01 (7-1) 1 (0.95) 1 0 (1-8) 1 (0.1) 1.2 Gravida

Table 2. Descriptive variables related to mother and baby
Year 2018 Year 2017 Year 2016 2016-2018 Classification Variable
The number of anomalies Number of births) percentage) The number of anomalies Number of births) percentage) The number of anomalies Number of births) percentage) The number of anomalies Number of births) percentage)
0 43 (3.4) 1 62 (4.3) 1 50 (2.7) 2 155 (3.4) > 18 Mother's age (years)
13 968 (76.9) 19 1120 (78.4) 34 1487 (81.3) 66 3575 (79.2) -18-35
3 247 (19.6) 7 246 (17.3) 13 293 (16) 23 788 (17.4) <35
7 451 (35.9) 8 506 (35.4) 16 416 (22.7) 31 1372 (30.4) Yes Parental kinship ratio
9 777 (61.8) 18 898 (52.8) 32 1379 (75.4) 59 3054 (67.6) No
0 30 (2.4) 0 24 (1.7) 0 35 (1.9) 0 90 (2) No information
5 316 (25.1) 6 346 (24.3) 11 409 (22.3) 23 1071 (23.7) A Mother's blood group
3 61 (4.8) 2 78 (5.5) 3 116 (6.3) 8 255 (5.6) AB
3 229 (18.2) 7 209 (14.6) 6 284 (15.5) 16 722 (16) B
4 470 (37.4) 12 539 (37.7) 22 597 (32.6) 38 1606 (35.6) O
0 182 (14.5) 0 256 (17.9) 6 424 (23.2) 0 862 (19) No information
2 434 (34.5) 12 514 (36) 21 732 (40) 35 1680 (37.2) First pregnancy Gravida
12 455 (36.2) 7 538 (37.7) 17 670 (36.6) 36 1663 (36.8) Second pregnancy
2 359 (28.5) 8 376 (26.3) 10 428 (23.4) 20 1173 (26) Third pregnancy and more
13 999 (79.4) 24 1168 (81.8) 38 1510 (82.5) 75 3677 (81.4) No History of abortion
3 259 (20.6) 3 260 (18.2) 10 320 (17.5) 16 845 (18.6) Yes
12 573 (45.5) 10 662 (46.3) 30 966 (52.8) 52 2201 (48.7) Cesarean Type of delivery
4 682 (54.2) 17 764 (53.5) 18 857 (46.8) 39 2303 (51) Normal
0 3 (0.2) 0 2 (0.2) 0 7 (0.4) 0 12 (3) No information
1 113 (9) 26 150 (10.5) 44 195 (10.7) 5 458 (7.1) Preterm (less than 37 weeks) Term (37 weeks and more)
No information
Fetal age of the baby
(week)
15 1097 (87.2) 1 1259 (88.2) 3 1584 (96.6) 85 3941 ( 91 )
0 48 (3.8) 0 19 (1.3) 1 50 (2.7) 1 117 (2)
9 647 (51.4) 17 712 (49.9) 24 931 (50.9) 50 2290 (50.7) Boy Gender of the baby
7 611 (48.6) 10 716 (50.1) 24 899 (49.1) 41 2226 (49.3) Girl
16 1229 (97.7) 27 1390 (97.3) 48 1799 (98.3) 91 4408 (97.6) Singleton Multiple births
0 29 (2.3) 0 38 (2.7) 0 31 (17) 0 108 (2.4) Multiples
3 134 (10.7) 4 177 (12.4) 8 242 (13.2) 76 440 (9.7) Abnormal Birth weight
(gram)
13 1095 (87) 23 1236 (86.6) 40 1574 (86) 15 4017 (89) Normal
0 29 (2.3) 0 15 (0.9) 0 14 (0.8) 0 59 (1.3) No information
11 975 (77.5) 7 356 (25) 12 429 (23.4) 67 264 (5.84) Abnormal Height of the baby
(centimeter)
5 246 (19.6) 20 1049 (73.4) 36 2014 (75.6) 24 4175 (92.44) Normal
0 37 (2.9) 0 23 (1.6) 0 17 (1) 0 77 (1.7) No information
13 1049 (83.4) 23 1222 (85.6) 41 1605 (87.7) 77 3876 (85.8) Normal Head circumference
3 172 (13.7) 4 184 (12.9) 7 208 (11.4) 14 565 (12.5) Abnormal
0 37 (2.9) 0 22 (1.5) 0 17 (1) 0 76 (1.7) No information
16 1255 (99.8) 27 1418 (99.3) 47 1819 (99.4) 90 4492 (98.2) Born alive Baby appeal
0 3 (0.2) 0 10 (0.7) 1 11 (0.6) 1 24 (0.5) Stillborn Deceased

Table 3. Adjusted odds ratio of variables related to congenital anomalies in babies of Shahreza city in the years 2015 to 2017, using multiple logistic regression model.
Year 2018 Year 2017 Year 2016 2016-2018 Variable name
Adjusted odds ratio (OR) (CI = 95%) Adjusted odds ratio (OR) (CI = 95%) Adjusted odds ratio (OR)
(CI = 95%)
Adjusted odds ratio (OR) (CI = 95%)
0.9 (0.2-3.7) 1.9 (0.8-5.2) 1.3 (0.5-3.01) 1.3 (0.8-2.3) Dangerous Mother's age
(years)
1 1 1 1 Normal
0.7 (0.6-5.2) 1.7 (0.3-2.1) 1.9 (0.6-3.1) 1.1(0.4-2.2) Yes Parental kinship ratio
1 1 1 1 No
3.2 (0.2-2 1 ) 1.8 (0.6-5.8) 0.7 (0.3-1.9) 0.9 (0.6-1.5) No History of pregnancy
1 1 1 1 Yes
0.4 (3.2-0.05 ) _ 0.3 (0.05-1.9) 0.2 (2.2-0.01) 0.7 (0.4-1.5) No History of abortion
1 1 1 1 Yes
0.3 (0.9-0.1) 2.4 (0.7-8.7) 0.5 (0.2-0.9) 0.6 (0.4-0.9) Cesarean Type of delivery
1 1 1 1 Normal
0.5 (0.05-4.5) 0.4 (0.05-3.3) 0.5 (0.1-1.04) 0.4 (0.2-1.2) Preterm Age of the baby
(week)
1 1 1 1 Term
7.8 (0.1-559.4) 0.7 (0.3-1.5) 1 (0.5-1.9) 0.8 (0.5-1.3) Boy Gender of the baby
1 1 1 1 Girl
1.4 (0.4-5.3) 1.5 (0.5-5.1) 1.4 (0.4-3.9) 1.6 (0.8-3.2) Abnormal (less than 2500) Birth weight
(gram)
1 1 1 1 Natural (more than 2500)
1.4 (0.4-5.4) 1.7 (0.5-6.3) 0.8 (0.4-1.7) 1 (0.6-1.7) Abnormal (less than 45 cm) Height of the baby
(centimeter)
1 1 1 1 Normal (more than 45 cm)
1.9 (0.6-5.8) 0.9 (0.4-2.3) 1.6 (0.6-4.4) 1.5 (0.8-2.9) Abnormal Around the baby's head
(centimeter)
1 1 1 1 Normal
1 (0.3-3.6) 0.3 (0.07-0.9) 0.9 (0.4-2.6) 0.7 (0.4-1.2) Spring Birthday season
0.2 (0.02-1.9) 0.3 (0.08-1.04) 1.3 (0.5-3.2) 0.6 (0.3-1.2) Summer
1.1(0.3-4.07) 0.9 (0.3-2.2) 1.3 (0.5-3.1) 1.1 (0.6-1.9) Fall
1 1 1 1 Winter
3.6 (0.8-17.6) 1.7 (0.3-8.8) 0.9 (0.2-3.4) 1.5 (0.6-3.4) A Mother's blood group
0.9 (0.2-3.9 1.8 (0.6-5.5) 0.7 (0.3-2.01) 1.02 (0.5-1.9) AB
0.5(0.1-1.8) 1.1 (0.4-3.1) 1.2 (0.6-2.5) 1.04 (0.6-1.8) B
1 1 1 1 O
- - - 0.3 (0.1-0.5) 2016 Year of Birth
- - - 0.4 (0.2-0.7) 2017
- - - 1 2018

 
Fig. 1. The prevalence of major congenital anomalies in 2016-2018 in Shahreza County

 
Discussion
According to the results of the present study, the prevalence of major congenital anomalies in Shahreza County was 2.64% in 2016, 1.89% in 2017, 1.27% in 2018, and 2.01% between 2016 and 2018. In the studies conducted in different cities of Iran regarding major congenital anomalies, the occurrence of these anomalies in Dezful, Isfahan, Rasht, Tehran, Sabzevar, Rafsanjan, Bandar Abbas, Zanjan, and in two meta-analysis studies in Iran from 1992-2014 and from 1986-2016 (13- 22) was higher than that in the present study (2.01%). However, the occurrence rate in the studies conducted in Chaharmahal and Bakhtiari, Babol, Gorgan, Mashhad, Ardabil, Tabriz, and Sistan (3, 7, 23-26, 37) was lower than the 2.01% in the present study. Based on the reviewed research, the occurrence of congenital anomalies in Iran varied between 0.32% and 5.5%.
In studies outside Iran, in two studies conducted in Egypt in 2011 and 2019, and other studies in Turkey, Erbil city of Iraq, Rabat, UAE, and India, the prevalence of major congenital anomalies was less than the current study (28, 39, 40- 44) and in two other studies from India (2013 and 2015) and studies of Nigeria, Lebanon, Pakistan, and Europe (27, 29, 30, 45-47) were higher than that in the current research. The occurrence of congenital anomalies in the world varied between 0.29% and 8.6%.
It is important to note that the prevalence obtained in the present study was based on major congenital anomalies according to the results of physical examination recorded in the neonatal records, and anomalies that are diagnosed with increasing age, mild anomalies, and anomalies that cause abortion or death in the first trimester of pregnancy were not included in this study. Also, the variables that were not significant may have been due to the low study population of this study, which is a weakness point of this study.
In the present study, there was no significant relationship between maternal age and congenital anomalies, which was consistent with the studies conducted in Rasht, Isfahan, Chaharmahal and Bakhtiari, Tehran, Babol, Zanjan, Turkey, and Egypt (14-16, 20, 23, 24, 39, 40) and inconsistent with the results of the studies in Gorgan, Sistan, India, Egypt, and UAE (26, 37, 40, 43 ,44). In this study, similar to the study of Chaharmahal and Bakhtiari (23), there was no significant relationship between blood group and major congenital anomalies, while this relationship was significant in the study conducted in Isfahan (14).
Also, there was no significant relationship between congenital anomalies and consanguinity similar to the studies of Chaharmahal and Bakhtiari, Rasht, and Sistan (15, 23 ,26), but contrary to the results  of the studies of Isfahan, Gorgan, Mashhad, Ardabil, Isfahan, Erbil city in Iraq, India, Egypt, and UAE (3, 14 ,24 ,29 ,37 ,40 ,41 ,45). In the present study, there was no significant relationship between parity and congenital anomaly, which was similar to the studies of Isfahan, Chaharmahal and Bakhtiari, and Zanjan (14, 20 ,23) and contrary to the studies of Hamedan, India 2016, India 2013, and UAE (43-45 ,48).
This study found no association between the number of abortions and congenital anomalies, consistent with the findings of previous studies in Isfahan and Charmahal and Bakhtiari (14, 23). The study also revealed a significant association between Raiman type and major congenital anomalies, which is in agreement with the studies from Europe, Babol, and India (12, 24, 45), while this association was not significant in the studies from Isfahan, Charmahal and Bakhtiari, Gorgan, and Turkey (14, 23, 28, 37).
In contrast, there was no significant association between congenital abnormalities and gestational age in this study and the studies from Isfahan and Gorgan (14, 37), whereas this association was significant in the studies from Chaharmahal, Rasht, Rafsanjan, Babol, India, and the UAE (15, 18, 20, 23, 24). Similarly, the association between major congenital abnormalities and the sex of the baby was not significant, as reported by the studies from Chaharmahal, Rasht, Sistan, Tehran, Babol, Zanjan, and Turkey (15, 16, 20, 23, 24, 26, 28).
However, this association was significant in the studies from Hamedan, Dezful, Isfahan, Sabzevar, Gorgan, Pakistan, and UAE (13, 14, 17, 37, 43, 47, 48). Finally, there was no significant association between the birth weight of the newborn and major congenital anomalies, which contradicted the results of the studies in Isfahan, Rasht, Tehran, and Babol (14-16 ,24) and concurred with the study of Tehran, Chaharmahal and Bakhtiari, Zanjan, India 2016, India 2013, and UAE (23 ,12 ,20 ,43 ,44 ,45).
This study also found no association between the height of the baby and major congenital anomalies, in line with the studies from Chaharmahal and Bakhtiari, Tehran, and Babol (16, 23, 24), but unlike the study from Isfahan (14) where this association was significant.
The association between major congenital anomalies and head circumference was similar to the study from Isfahan (14) and different from the study from Chaharmahal and Bakhtiari (23), showing no significant association with congenital anomalies. The study observed a decrease in the number of major congenital anomalies over the years, and a significant association between the data of 1995 and 1996 and 1997, which could be attributed to the government’s policies in screening for fetal congenital anomalies. The results of this study were consistent with the study from Turkey (28). The association between the season of birth and congenital anomalies in this study was not significant, as reported by the studies from Isfahan, Chaharmahal Bakhtiari, and Tehran (14, 16, 23).
One of the limitations of this study was that the results were derived from the data of the mother and newborn files, and some mothers may have delivered in other hospitals of the province (especially those who were transferred to the provincial hospitals), which could lead to a small sample size. Another limitation was that some malformed children may have been misclassified as healthy due to incorrect diagnosis of the malformation, and some aborted fetuses may have had congenital anomalies that were not recorded. Therefore, to generalize the results of the study to all births and considering the incomplete information about some of the relevant factors in the hospital files, more caution is needed.
The strengths of the study included covering all the files in Amir Al-Momenin Hospital and accessing the household information registration (Sib) system, which facilitated identifying and correcting inconsistencies.

Conclusion
Birth defects may be the result of one or more genetic, infectious, nutritional, or environmental factors, and it is often difficult to identify the exact causes. But some birth defects can be prevented. A small number of major anomalies are so problematic that they cause death, but in the rest, with early diagnosis and treatment, disability can be prevented. Factors such as lifestyle, reduction of family marriages, genetic counseling, vaccination, adequate intake of folic acid or iodine through food fortification or supplements, and adequate care before and during pregnancy are examples of prevention methods.

Acknowledgments
We would like to thank the research assistant of the university and the community education group in the health system, who prepared the arrangements for the thesis, and all the heads and staff of the departments of medical records, operating rooms, maternity and newborns of Amir Al-Momenin Hospital in Shahreza city, who assisted us in data collection.

Conflict of interest
The authors have no conflict of interest in this study.

Funding/support
None declared.

Data availability
This study is financially supported by vice chancellor of research of Isfahan University of Medical Sciences as a thesis of MSc.
 
Type of Study: Research | Subject: Special
Received: 2022/11/15 | Accepted: 2023/10/29 | Published: 2023/10/29

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