Fetal chromosome abnormalities and congenital malformations: an Egyptian study

  • SMN El Din
  • NA Ismail
  • AR Ramy


Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic counseling in 22.8% of the study cases was positive family history of CNS malformations, and in 17.9% was chromosomal abnormalities in previous child. Also, the results showed that the indications for amniocentesis in 60.8% were history of having previous child with Down syndrome, and in 15.3% were advanced maternal age. The results of chromosomal analysis of amniotic fluid samples; 21 cases (19.3%) had chromosomal abnormalities, where trisomy 21 (Down syndrome) was detected in 10 cases (9.2%), unbalanced translocation Down syndrome was detected in 9 cases (8.3%) and one had 46 XX, del (13-q), one had 45, XX, t (13;14) and 2.8% was 46, XX, +21, der (14;21) (q10;q10). The risk of complications of amniocentesis was associated with performing amniocentesis early in pregnancy, and with increased number of attempts. The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic fluid, the decision to terminate the pregnancy was made in 3 (14.3%). Among the 45 cases with abnormal findings suggesting fetal congenital malformation, 16 (35.6%) chose termination of their pregnancy. In conclusion: Public awareness of the risks and difficulties facing a child with chromosomal anomalies or congenital malformations and the effect on their future health and living is of great importance for acceptance of prenatal screening. Prenatal diagnosis may affect the reproductive decision after genetic counseling. It is essential that genetic counseling is noncoercive and nonjudjemental. The couples decision (Even if it is different from the counselor's views) should be respected.

Keywords: Genetic counselling, antenatal screening, amniocentesis.

Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 131-146

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