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Abstract This work was done to investigate cases of major congenital malformations as regards the type of malformations, their possible causes searching for chromosomal aberrations if any, as one of these causes. This work was carried out during the period from June 1988 to March 1990 at the Maternity and Pediatric Hospitals of Ain Shams Univerity. All newly born infants delivered with major congenital malformations were subjected to full history taking, thorough clinical examination, family Pedigree studv, some special investigaytions whenever indicated as well as chromosomal analysis. Our findings can be summarised as follows: 1. The incidence of major congenital anomalies was 1.7% 2. Major congenital anomalies were classified into 7 groups according to the major system involved. These groups were congenital skeletal anomalies, digestive system anomalies, central nervous system anomalies, cardiac anomalies, eye anomalies, ear anomalies and urogenital system anomalies. --- -- - - ---- - - -- - -- --------- -- --- --- - ----------------- -- -_.-----------~._-- Summary and Conclusion [187J 3. The most common affected system was the skeletal system (34.9%) followed by the anomalies of the digestive system (18.6%), cardiac anomalies (16.3%), eye anomalies (11.6%), urogenital system (9.3%) and central nervous system (7%). The least group affected was the group of ear anomalies representing 2.3% of all congenital anomalies. 4. There was slight femal predominance over male. Also there was a sex difference in the same group of specific anomaly. There was a male predominance over female in the group of skeletal anomalies, while there was a femal predominance in the group of eye, urogenital, central nervous system and digestive system anomalies.. 5. It was observed that there was a higher percentage of congenital anomalies among newly born infants with low birth order than among high birth order. This may be attributed to exposure of the mothers to some environmental factors, that may act as teratogen, to the small number delivered by each mother and to the very young age of marriage in our community. 6. It was observed that a good percentage (11.61 %) of our cases had a family history of similarly affected sibs signifying the role of single gene anomalies in etiogenesis of major congenital malformations. - -- - -- -- - - -- -- - _.- - - -- --- --------------/-------------------- - -----------_.------------ Summary and Conclusion [1881 7. Parental consanguinity in our cases was higher than in the general Egyptian population and this denoted that consanguinity increases the risk for congenital anomalies. 8. Advanced maternal age was observed to increase the risk for congenital malformations. The frequency of malformations was increased obviously after the age of 35 and rised sharply from the age of 40 and above. No increase in the incidence of congenital anomalies with advanced paternal age. 9. As regards the association of congenital anomalies and maternal diseases. there were 4 cases gave a history of obscure maternal hyperthermia. One of the anomalous babies had microphthalmia and another one had a congenital heart defect. Two of our cases had maternal history of D.M., the first one had skeletal anomaly while the second had congenital heart defect. One case had a history of maternal rubella infection during pregnancy and presented with cataract and microphthalmia. One mother had oligohydramnios that gave a birth to a limb anomalous baby. 10. As regards the association between congenital malformations and maternal drug intake; there was one case had a history of maternal contraceptive drug intake during pregnancy and her infant presented with limb anomalies. - - - - - - - - - - - --- - -- -------- ---- _.----- Summary and Conclusion [189J Another case had a hydrocephalus and the mother received analgesics during pregnancy. 11. One case proved to be trisomy 13 and the mother exposed to a diagnostic x-ray irradiation during first month of pregnanacy. 12. The incidence of single gene anomalies as a cause of congenital malformations in our study was 30.2% 13. About 14% of our cases had relatively a clear association of a teratogen as a cause of malformations. 14. The incidence of chromosomal anomalies causing major congenital malformations in our study was 9.3%. 15. Some structural chromosomal abnormalities as breaks, dicentric chromosomes and absent centromere were observed in a higher frequency than in normal Egyptian populations. Those increased frequencies of chromosomal changes may denote that there is chromosomal instability in some cases of congenital anomalies. |