Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From Türkiye.

Area of Science:

• Genetics
• Prenatal Diagnosis
• Medical Diagnostics

Background:

• Chromosomal microarray (CMA) is a key diagnostic tool for genetic diseases.
• Its utility in prenatal diagnosis is established, but clinical correlation needs further study.
• A Turkish cohort study is needed to assess CMA's relevance with clinical findings.

Purpose of the Study:

• To evaluate the diagnostic yield of CMA in a large Turkish prenatal cohort.
• To analyze CMA results in fetuses with ultrasound abnormalities, family history, or abnormal screening.
• To assess the significance of pathogenic variants, including unique breakpoints.

Main Methods:

• Chromosomal microarray (CMA) analysis was performed on 373 prenatal samples.
• Samples were from fetuses with various ultrasound abnormalities, family history, or abnormal screening.
• Fetal anomalies were categorized based on ultrasound findings.

Main Results:

• Pathogenic variants were identified in 18 out of 373 fetuses (4.8%).
• A total of 21 pathogenic variants were detected.
• Seven variants were recurrent microdeletions/duplications; 14 had unique breakpoints.

Conclusions:

• CMA is important and effective for prenatal diagnosis in the Turkish population.
• Reporting results, especially unique breakpoints, is crucial for genetic counseling and management.
• CMA enhances diagnostic accuracy for fetal anomalies.