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Updated: Jul 16, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
The Evaluation of Invasive Prenatal Diagnostic Tests in North Cyprus: A Retrospective Study
M Z Avci1, A Arkut2, N Bilgic3
1Faculty of Health Sciences, Cyprus Science University, Kyrenia, North Cyprus.
Insights
Prenatal invasive diagnostic tests are crucial for identifying fetal thalassemia and chromosomal anomalies, enabling timely family decisions. This study evaluated 30 years of diagnostic test results in North Cyprus.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Obstetrics
Background:
- Congenital diseases pose significant global health challenges.
- Thalassemia is a prevalent genetic disorder in North Cyprus, necessitating early detection.
- Prenatal diagnostic measures are vital for preventing births with severe genetic conditions.
Purpose of the Study:
- To assess the outcomes of prenatal invasive diagnostic tests (IPDT) in North Cyprus.
- To illustrate the diagnostic process for thalassemia and chromosomal abnormalities.
- To evaluate the efficacy of IPDT in a private obstetrics setting.
Main Methods:
- Retrospective descriptive study analyzing data from 1990-2022.
- Evaluation of Chorionic Villus Sampling (CVS) and amniocentesis results.
- Genetic analysis for alpha/beta thalassemia, sickle cell disease, and chromosomal anomalies.
Main Results:
- IPDT identified 7.3% chromosomal anomalies and 69.5% thalassemia/sickle cell anemia.
- Specific diagnoses included 23.4% beta-thalassemia major, 42.3% beta-thalassemia minor, and 2.1% alpha-thalassemia minor.
- Chromosomal anomaly detection rates were 2.8% for Down syndrome and 4.54% for other anomalies.
Conclusions:
- Invasive prenatal diagnostic tests are essential for accurate fetal anomaly diagnosis.
- Timely diagnosis empowers families to make informed reproductive decisions.
- IPDT plays a critical role in managing genetic diseases prenatally.
Background:
Congenital diseases are still an important medical, social, and economic problem all over the world. In North Cyprus, in addition to other reasons, early prenatal diagnostic measures are undertaken to prevent births with thalassemia major, a locally widespread genetic disease.
Aim:
This study aims to evaluate the results of prenatal invasive diagnostic tests performed in a private obstetrics clinic in Northern Cyprus and show the diagnosis process of thalassemia and chromosomal anomalies.
Materials And Methods:
This study is a retrospective, descriptive study. Chorionic villus sampling (CVS) results and the amniocentesis tests performed between 1990 and 2022 are evaluated. Thalassemia and chromosome analysis of samples obtained by CVS and amniocentesis tests were performed. To diagnose alpha or beta thalassemia and sickle cell, 239 CVS was performed. And to diagnose chromosomal anomalies, 396 CVS and amniocentesis were performed.
Results:
The mean age of the 480 pregnant women included in the study was 31.12 years (18-46) and 30% of them were older than 34 years. The most common indications for invasive prenatal diagnostic test (IPDT) were; mother/father thalassemia minor/major, advanced maternal age, high risk of ultrasonography erase findings, and the noninvasive screening test. The result of IPDT detected 7.3% chromosomal anomaly and 69.5% thalassemia and sickle cell anemia. Of the 239 CVS performed to diagnose alpha or beta thalasemia and sickle cell, 23.4% beta major, 42.3% beta minor, and 2.1% alpha minor were diagnosed. Of the 396 CVS and amniocentesis performed to diagnose chromosomal anormalies; 2.8% of Down syndrome and 4.54% of other chromosomal anomalies were diagnosed.
Conclusion:
IPDT is important in correctly diagnosing fetal anomalies at the prenatal stage to help families decide at the right time.
