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Prenatal diagnosis of chromosome disorders in Tunisian population

H Chaabouni1, M Chaabouni, F Maazoul

  • 1Service des Maladies Héréditaires et Congénitales Hôpital Charles Nicolle 1006, Tunis, Tunisia. habiba.chaabouni@rns.tn

Annales De Genetique
|August 28, 2001
PubMed

Insights

Prenatal diagnosis (PND) rates are low in developing nations due to cost and cultural beliefs. This study of 3110 Tunisian fetal karyotypes reveals a 4.18% abnormality rate, highlighting the need for PND promotion.

Area of Science:

  • Medical Genetics
  • Reproductive Health
  • Public Health

Background:

  • Cytogenetic prenatal diagnosis (PND) is a standard national health program in developed countries.
  • PND access remains limited in developing countries, influenced by financial and socio-cultural factors, particularly in Arab Muslim nations.

Purpose of the Study:

  • To report the outcomes of 3110 fetal karyotype analyses in a Tunisian population.
  • To assess the prevalence of chromosomal abnormalities and factors influencing PND in a Muslim Arab country.

Main Methods:

  • Analysis of cultured amniocytes for fetal karyotyping.
  • Review of indications for amniocentesis, including maternal age, balanced karyotypes, and ultrasound findings.
  • Assessment of parental acceptance of pregnancy termination following genetic counseling.

Main Results:

  • A total of 3110 fetal karyotypes were analyzed, with an abnormal karyotype rate of 4.18%.
  • Abnormalities were categorized into bad prognosis (3.05%) and good prognosis (1.13%).
  • Maternal age was the most common indication; balanced karyotype and ultrasound findings showed the highest predictive value.

Conclusions:

  • PND promotion through education, genetic counseling, and ultrasound screening is crucial for preventing handicaps from cytogenetic disorders.
  • Despite legal and religious permissions, 94.74% of parents accepted pregnancy termination when advised.
  • The study represents a significant contribution to understanding PND in Muslim Arab countries.

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