الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Congenital anomalies (CAs) are a global health problem. They are one of the important causes of disability, chronic illness, and deaths in pediatrics. World Health Organization defined congenital anomalies as any structural, functional, or metabolic defects that begin during intrauterine life and can affect functions of the body. About five million infants are born, with major congenital anomalies, each year. Approximately, 95% of all deaths from CAs occur in middle and low income countries.
Consanguinity increases the incidence of rare genetic congenital malformations. Maternal exposure to specific pesticides and other chemicals, as well as alcohol, tobacco, specific medications, and radiation during pregnancy, may also increase the risk of having a fetus or newborn with congenital anomalies. Maternal infections as rubella and syphilis are a significant etiology of congenital malformations. Maternal folate deficiency also increases the risk of having a newborn with a neural tube defect while excess intake of vitamin A may also affect the normal development the fetus. The causes of congenital anomalies are variable as many anomalies still of unknown etiology. Causes of congenital anomalies are categorized to four large categories; environmental, genetics, multifactorial and unknown.
Early and accurate diagnosis of a newborn with multiple congenital anomalies is necessary for management, genetic counseling about possible causes, risk of recurrence, importance of prenatal diagnosis and screening for other family members. Some congenital anomalies are preventable through good antenatal care, adequate folic acid supplementation, and vaccination.
This study included all newborns with major congenital anomalies admitted to the neonatal intensive care unit at Alexandria university children’s hospital within one year from 1st of January 2020 to 31st of December 2020. The study was conducted after approval of the local ethical committee and an informed written consent for every participant shared in the study (from parent or surrogate) was taken.
The study aimed to estimate the frequency of major congenital anomalies among newborn infant admitted to the neonatal intensive care unit (NICU) at Alexandria university children’s hospital, Egypt, during one year. Patient data included: Demographic data, prenatal and maternal characteristics, maternal medical history, maternal drug intake, maternal prenatal and obstetric history, presenting manifestations, type of dysmorphology, pathogenesis of anomalies, results of karyotyping, final diagnosis, duration of hospital stay and outcome. Statistical analysis of information accomplished from the present study revealed that the incidence of congenital malformations in the studied population was 9.1% of total admissions.
In the present study, it was found that males more affected than females, rural more than urban, full terms with normal weight were more than preterms and late preterms with low birth weight. The mean age of patients’ mothers was (28.7 ± 6.6) years. Consanguinity was positive in (21.5%) couples, multipara, smoking, ceserian section associated with high incidence of congenital anomalies. It was found that cardiovascular system anomalies were the commonest type of anomalies (58.5%) then musculoskeletal anomalies (32%), followed by central nervous system anomalies (25%), genitourinary system anomalies (16%), respiratory system anomalies (15%), GIT anomalies (7.5%) and special sense anomalies (6%).