What is Karyotyping?

Karyotyping is a genetic analysis that examines the number and structure of an individual’s chromosomes to detect potential abnormalities. Using cell culture techniques, this test provides a clear “snapshot” of all chromosomes, making it possible to identify changes such as:

• Abnormal chromosome numbers (aneuploidy)
• Structural rearrangements (translocations, deletions, inversions)
• Triploidy
• Mosaicism

Karyotyping is widely used in both clinical and reproductive settings to help doctors and patients understand underlying genetic causes of certain conditions.

What Can Karyotyping Detect?

Karyotyping can reveal chromosomal changes such as:

• Aneuploidy – extra or missing chromosomes (e.g., Down syndrome, Turner syndrome).
• Translocations – rearrangements of chromosome segments.
• Deletions – missing sections of a chromosome.
• Inversions – chromosome segments that are reversed end to end.
• Triploidy – presence of an extra set of chromosomes.
• Mosaicism – presence of two or more cell lines with different chromosome patterns.

Why is Karyotyping Important?

• Helps diagnose congenital disorders and developmental delays.
• Assists in infertility and recurrent miscarriage investigations.
• Provides critical information for prenatal, pediatric, and cancer genetics.

Who Should Consider Karyotyping?

Karyotyping may be recommended for:

• Couples with infertility or recurrent miscarriages – to identify possible chromosomal abnormalities affecting conception or pregnancy outcomes.
• Individuals with developmental delays, intellectual disabilities, or congenital abnormalities – to detect underlying genetic causes.
• Couples with a history of chromosomal disorders – for family planning and genetic counseling.
• Pregnant women with abnormal prenatal screening results – to confirm chromosomal abnormalities in the fetus.
• Individuals with certain cancers or hematological conditions – where chromosomal changes may influence diagnosis or treatment.