الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Congenital anomalies are a worldwide problem causing morbidity, mortality and disability. Congenital anomalies vary greatly between high, middle and low income countries. Middle and low income countries show the highest prevalence of severe CAs.In Egypt, the prevalence of CAs is increasing. As a result of that, the mortality and disability resulting from CAs are increasing as well. Most of CAs have unknown cause. Many integrated risk factors contribute to CAs and most of CAs can be prevented.
The study was carried out with the principle aim of investigating the pattern and risk factors of CAs among infants in El Shatby University Hospital, Alexandria, Egypt and with the following specific objectives:
1. To estimate the frequency of CAs among infants presented to El Shatby University Hospital throughout six consecutive years (2010 – 2015).
2. To describe the nature of CAs among infants presented to El Shatby University Hospital.
3. To identify possible risk factors of CAs among infants presented to El Shatby University Hospital.
This study was carried out in El Shatby University Hospital. A retrospective case series was used for estimating the frequency and nature of CAsand a case control study for identifying the possible risk factors of CAs among infants presented to El Shatby University Hospital.
For the retrospective case series, all available records were reviewed for thesix years (2010-2015). The collected data included the sociodemographic characteristics, the characteristics of patients, the diagnosis, the duration of stay in hospital and the condition at time of discharge.
For the case control study, a sample of 200 infants (100 cases and 100 controls) was taken.Data were collected from the guardians of the infants using a predesigned structured interviewing questionnaire which included the socio-demographic data, the maternal data, the family history of CAs, the associated foetal factors and the diagnosis.
The study revealed the following main results:
I. The record review (2010 – 2015):
Congenital anomalies were higher among post-neonates (62.7% in 2010 to 71.9% in 2015).
Males were more affected with CAs than females (70.6% and 29.4% respectively).
Gastrointestinal anomalies were the most common type of CAs in El Shatby University Hospital (33.9%), followed by musculoskeletal anomalies (26.7%), CHD (11%)and blood disorders (6.2%). Genitourinary anomalies, TOF, diaphragmatic hernia, exomphalosomphalocele, genetic and chromosomal diseases and other CAs constituted 4.9%, 4%, 3.2%, 3%, 2.2% and 4.2% of the total CAs respectively. Multiple anomalies were rare constituting only 0.7% of the total CAs.
II. The case control study:
Males were significantly more associated with CAs than females (63% of cases and 47% of controls were males, p= 0.033, OR=1.92).
More than half of the studied cases were from urban areas (53%) and less than half of controls were from urban areas (46%).
Infants with CAs were more liable to be born to mothers aged 35 years old or more compared to infants without CAs (p= 0.097, OR= 2.22).
Infants with CAs were more liable to be born to fathers aged 45 years old or more compared to infants without CAs (p= 0.065, OR= 3.27).
Consanguinity between parents was positive in 47% of cases and 38% of controls. Positive consanguinity between parents was not associated with the presence of CAs (p= 0.252, OR= 1.44).
Fifty three percent of infants had their first sign of CAs at time of birth, one fifth of them (10%) were diagnosed before birth by antenatal ultrasound.Thirty eight percent of infants were diagnosed as having CAs at the time of birth and only 9% of infants were diagnosed as having CAs before birth by antenatal ultrasound.
About one third of infants’ guardians (32%) were informed by the physician that their babies have CAseither antenatally by ultrasound (10%) or clinically at the time of delivery (22%).
More than half (52%) of infants were diagnosed in governmental hospitalsand only 3% were diagnosed in private hospitals. Those diagnosed in private clinics constituted 45%.
An equal percentage of mothers of both cases and controls were exposed to secondhand smoke and both infants with and without CAs had an equal probabilityregardingsecondhand smoke history of mothers.Smoking of fathers had no significant association with the presence of CAs (p= 0.202, OR= 1.496).
Infants with CAs were more liable to be born to obese females than infants without CAs. There was no significant association between cases and controls regarding obesity of mothers (p= 0.187, OR= 1.739).
More than three quarters (77%) of the mothers of cases and 57% of the mothers of controls had complications during pregnancy. A marked association between complications during pregnancyand presence of CAs was found (p= 0.004, OR= 2.256).
An association was found between medications and vitamin A intake during pregnancy and the presence of CAs (p= 0.004, OR= 2.746 and p= 0.000, OR= 6.247 respectively).
Twenty one percent of mothers of cases and 10% of mothers of controls were exposed to chemicalsduring pregnancy, while 53% of mothers of cases and 33% of mothers of controls were exposed to pesticides during pregnancy. Exposure to chemicals and pesticides were found to be associated with CAs (p= 0.002, OR=3.500 and p= 0.006, OR= 2.289 respectively).
Living near strengthening mobile stations was associated with the presence of CAs (10% of mothers of cases and 2% of mothers of controls, p= 0.033, OR= 5.444) but living near high electricity transmission towers was not significantly associated with the presence of CAs (9% of mothers of cases and 4% of mothers of controls, p= 0.251, OR= 2.374).
The most commontype of CAs in the studied infants was genetic/ metabolic disorders (33%), followed by CVS anomalies (27%), GIT anomalies (24%), musculoskeletal anomalies (21%) and genitourinary anomalies (20%). Multiple anomalies were found in 26% of the presented cases.
The main recommendations of the study are:
1. Recommendations to El Shatby University Hospital:
Improve the recording system to facilitate the use of the secondary data to monitor the trend and assess the magnitude of CAs. This could be achieved through computerizing the recording system instead of using the manual recording. Ensure that the data available in the records should include the precise age of the infant, the details of the residence and the final diagnosis. Records should be organized and of good quality.
2. Recommendations to obstetricians:
a. Limit prescription of multivitamins that include vitamin A.
b. Follow up of pregnant females regularly for hypertension, oligohydramnios and preeclampsia.
c. Restrict the medication prescriptions that may have a potential teratogenic risk.
d. Assess pregnant females regularly by ultrasound for early detection and diagnosis of CAs.
3. Recommendations to neonatologists and pediatricians:
a. Routine neonatal screening can facilitate life-saving treatments and prevent progression towards some physical, intellectual, visual, or auditory disabilities. This could be done in the maternity unit and includes clinical examination and screening for disorders of the blood, metabolism and hormone production. Screening for CHDs as well as early detection of CAs.
b. Early treatment of children with functional problems such as thalassaemia (inherited recessive blood disorders), sickle cell disorders, and congenital hypothyroidism (reduced function of the thyroid). This could be done through training of the pediatrician and providing the specific treatments free of charge needed in the pediatric hospitals.
4. Recommendations to pediatric surgeons:
Early diagnosis and early intervention are needed to improve the prognosis of the cases of CAs. Many structural CAs can be corrected with pediatric surgery. This could be achieved through provision of training courses to pediatric surgeons.
5. Recommendation to Ministry of Health and Population:
a. Raising the awareness of the public about:
• The importance of folic acid in preventing CAs.
• The hazards of environmental factors for pregnant.
This could be done using health educational messages through the mass media and through the antenatal care settings.
b. Screening of females during the following periods:
• Preconception period: to identify those at risk for specific disorders or at risk of passing a disorder onto their children. Screening includes obtaining family histories and carrier screening, and is particularly valuable in places where consanguineous marriage is common.
• Peri-conception period: to identify maternal characteristics that may increase the risk. Screening results should be used to offer appropriate care of the females according to the risk. This may include screening for young or advanced maternal age, as well as screening for use of alcohol, tobacco or other risks. Ultrasound can be used to screen for Down syndrome and major CAs during the first trimester and for severe foetal anomalies during the second trimester. Maternal blood can be screened for placental markers to aid in prediction of risk of chromosomal abnormalities or NTDs, or for free foetal DNA to screen for many chromosomal abnormalities. Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose chromosomal abnormalities and infections in women at high risk.
c. Strengthening and ensuring the provision of antenatal counseling for the couples about the different risk factors of CAs and the possibility of their prevention.
d. Initiating a national registry and a surveillance system for CAs to have accurate estimate of their burden in Egypt.
6. Recommendations to Ministry of Electricity and Ministry of Communications and Information Technology:
High electricity transmission towers and mobile strengthening stations should be constructed according to the standard guideline precautions.
7. Recommendation to researchers:
Further studies are needed to assess the relation between assisted pregnancy, exposure to different types of radiations, living near mobile strengthening stations and living near high electricity transmission towers and the risk of having CAs.