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Abstract Birth defects are the structural, functional and metabolic disorders that originate in utero and identified before, at birth or later in life. They are the most important causes of spontaneous abortions, perinatal mortality, neonatal mortality, children morbidity and long-term disability. The exact causes of most birth defects cases are still un identified in 40-60% of cases, the known causes are genetic ; chromosomal, single gene defect or multifactorial and non-genetic ; teratogenic drugs, chemicals, irradiation or infections . Consanguineous marriage, parental ages at conception, maternal illness as Diabetes Mellitus hypertension, epilepsy and thyroid disorders as well as hyperthermia are risk factors for birth defects. Birth defect may be malformation, deformation, disruption or dysplasia. It can involve single primary system as isolated congenital heart or multiple as syndromes, association or sequence. It varies in severity from major defects that may be even lethal, need surgical and medical treatment or mild as minor defects that require no treatment. Management of birth defect is costly, the affected children require hospitalization for longer duration and more frequents than the others so birth defects have significant burden on child health, families, health care providers and societies. The best treatment for birth defects is prevention and genetic counselling plays a significant role for diagnosis and management The aim of this work was to study the pattern and frequency of birth defects among hospitalized patients at Fawzy Moaz Pediatric Hospital over a period of one year to allow accurate diagnosis, early management, proper genetic counseling and rehabilitation. It will also increase the awareness of parents, medical staff and health authorities on birth defects. The study was conducted to 238 (6.8%) patients with birth defects out of 3498 patients who were admitted to different departments of the hospital including intensive Summary, Conclusion and Recommendations 164 cares for neonat, pediatric and inpatient wards. Males were134, female 99 and 5 had undifferentiated sexes. Patients and methods: All the patients were subjected to detail medical, genetic history, pregnancy and delivery history, complete clinical genetic examinations with special emphasis on craniofacial and limb examination as well as anthropometric measurements, pedigree analysis and clinical photography. chromosomal analysis, radiological studies, hormonals, enzymes and factors assay, metabolic screening or molecular study were according to the individual cases. The results of the study revealed the following: According to systemic ICD10 classification of birth defect, the studied 238 cases were categorized into 15 groups; the commonest groups were isolated cardiovascular defects (25.63%), chromosomal (21.43%) and musculoskeletal defects (13.87%) while the least common were hematological disorders and isolated cleft lip and cleft palate. group 1: Isolated Congenital cardiovascular defects were 61 cases (25.63%) ; patent ductus arteriosus ,ventricular septal defect and atrial septal defect were frequent in acynotic type and transposition of great arteries and tetralogy of Fallot of cyanotic type. group 2: chromosomal defects were 51 cases (21.43%).trisomy 21 was the most frequent. the other were trisomy13, trisomy 18, ring chromosome 11, Di George syndrome, William syndrome and Turner syndrome group 3: Musculoskeletal system defects; were 33 cases (13.87%).skeletal dysplasia was the most frequent including 2 cases of each Achondroplasia, Ellis Van Crevelled and asphyxiated thoracic and one case of each of the following; Thanatophoric dysplasia, campomelic dysplasia and Fibrochondrogenesis. group 4: Central nervous system & neuromuscular defects were 18 (7.56%); the commonest were microcephaly (6) followed by neural tube defects (4cases). Summary, Conclusion and Recommendations 165 group 5: Congenital endocrinal defects; were12 cases (5. 04 %); diabetes mellitus type 1 cases were the most common followed by congenital adrenal hyperplasia group 6: Congenital Skin disorders were 9 cases (3.78 %), Icthyosis and neurofibroma type 1 were the most frequent group 7: Congenital Inborn Error of metabolism was 9 cases (3.78%) organic Acidemia was the commonest group 8: Genitourinary system defects were 8 cases (3.36%); hypospadias was the most frequent in 4 cases. group 9: Sequences and association were 6 cases (2.52%), 50% were Pierre Robin sequences, VACTREL association in 33.33% and potter in 16.66% group 10: Dysmorphic syndromes were 5 cases (2.10%). These cases were Johonson Blizzard, Apert, Treacher Collin, charGE, Goldenhar syndromes. group 11: Gastrointestinal system defects were 4 cases (1.68%); imperforated anus and diaphragmatic hernia were equally presented in this study (50%). group 12: Miscellaneous cases were 4 cases (1.68%); they were Beckweith weidmann, Noonan, Silver- Russel syndromes and anticonvulsant embryopathy. group 13: Hematological disorders were 2 cases (0.84%) group 14: Isolated cleft lip and isolated cleft palate group were 2 cases (0. 84%). Groups 15: Uncertain diagnoses were 14 cases (5.88%) as final diagnosis was not reached The mean maternal age was 28.18±2.03, The highest mean maternal age was among chromosomal group (32.5±7.89) specifically the non- disjunction type(35.4±7.02) while The mean Paternal age at time of conception was 36.10±1.4 and The highest mean paternal age was detected in miscellaneous group 40.75 ± 15.37. Summary, Conclusion and Recommendations 166 Parental Consanguinity detected in 31%, more frequent in inborn error of metabolism group 77.78% and skin defects 55.56%. Family history of similar genetic defects detected in 17.22% of cases while history of other genetic disorders in family detected in 5.04% of cases. Maternal history of abortion detected in 29.4%, more common in chromosomal defect group, the pregnancy assisted by intracytoplasmic sperm injection was 2.94%, and pregnancy complicated with Polyhydraminous was present in (13.86%), while oligohydraminous was in 7.56%. Maternal diabetes was detected in 24 cases, preeclampsia in 42, thyroid disorders in 2 cases, bronchial asthma in 2 cases, Congenital heart in 2 cases, epilepsy in 1 case. Maternal infection was present in 5 cases and 3 cases had maternal hyperthermia and Hyperpyrexia during pregnancy. Maternal use of drugs during pregnancy was present in 19.75%, 1.26% had active maternal smoking and one case had maternal exposure to radiation during pregnancy. Folic acid was received by 61.76% post conception but not regular. Most cases were delivered by C/S (84,4%), 74.8 % were full terms and 25.2 % were preterm while 93.69 were single,5.46% twins and 0.84% were more than twins. The mortality rate among cases of birth defect cases was 36.9% while it was 1.5% among non- Birth defect and isolated cardiovascular defect was the most common cause of death followed by chromosomal , central nervous system neuromuscular defect 33.3% for each group. Conclusion and recommendation; Frequency of birth defects was high with increased mortality rate in isolated cardiovascular defects and chromosomal defects. National survey is required for monitoring prevalence, pattern of birth defects, identifying the etiology and prevention. Genetic counselling, carrier detection, folic acid supplement to all females pre and post conception and antenatal care for control maternal illness. Perinatology centers and expansion of neonatal screening are required. |