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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
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.
Abstract:
Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we report results of 3110 fetal karyotypes carried out in a Tunisian population, by cultured amniocytes analysis. It is the largest report in a Muslim Arab country in our Knowledge. Abnormal karyotypes rate was 4.18% classified in two groups: bad prognosis (3.05%) and good prognosis (1.13%). Common amniocentesis indication was maternal age. The highest predictive value was observed in balanced karyotype and fetal ultrasound findings indications. Maternal serum markers were not commonly used for trisomy 21 screening. Pregnancy termination that is permitted by legal and religious authorities was accepted by 94,74% parents. Information about PND outcomes was given by genetic counselling prior to fetal sampling, pregnancy interruption was discussed with parents at cytogenetic result announcement. The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia.