الفهرس 
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Abstract
This combined prospective , retrospective, observational study was conducted on 2651 high risk pregnancy women that attend the medical genetic center at Ain shams university during the period from August 2007 to March 2011 to study fetal chromosomal abnormalities and congenital malformations in high risk pregnancy and to evaluate the role of sonography as a diagnostic procedure in this field .
The study was divided into three groups .
Group I: 2651 high risk pregnant women that underwent all the clinical lab and examination
Group II: 80 pregnant women who gave birth with congenital malformation (3%).
Group III: 80 infants with congenital malformation.
In the present study 18% of group 2 were above 30 years, and group 3 shows that 14 % had chromosomal abnormalities. CNS disorders represented the highest incidence accounting for 20 % in group III.
Both positive family history and consanguinity represents the highest risk factor present in 30 % of cases of group II.
Ultrasound revealed 68 cases with congenital anomalies; a sensitivity of 85% and a false negative rate of 15%.
Amniocentesis and karyotyping were performed in 26.3% of cases of group 3 prenatally, and 8 cases (10%) were counseled and advised to terminate pregnancy.