الفهرس 
Material and methodsOnly 14 pages are availabe for public view
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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.
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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.
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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.
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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.