Karyotyping is a lab test that examines a person’s chromosomes to detect numerical and structural abnormalities. It’s used for prenatal diagnosis (e.g., Down, Turner, Klinefelter syndromes), evaluation of infertility or recurrent miscarriage, and some cancers to identify chromosomal changes that affect prognosis or treatment. Results guide diagnosis, management, and genetic counseling for individuals and families.

Karyotyping in IVF is the laboratory examination of chromosomes to identify numerical or structural abnormalities. Parental karyotypes can reveal balanced rearrangements; embryo testing (via preimplantation genetic testing) screens biopsied embryos for aneuploidy or structural defects to help select chromosomally normal embryos for transfer. This reduces miscarriage risk and can improve implantation rates and guide genetic counselling.

A normal karyotype shows 46 chromosomes arranged in 23 pairs: 22 pairs of autosomes and one pair of sex chromosomes — XX in females or XY in males. Chromosomes display the expected size, shape and banding pattern with no extra or missing chromosomes, large deletions or duplications, translocations, inversions, or mosaicism. This indicates typical chromosomal structure and number.

Genetic compatibility testing costs in India vary by test complexity. Basic targeted tests (e.g., thalassaemia) often cost ₹500–3,000 per person. Standard carrier panels run about ₹3,000–10,000, while expanded genomic panels may be ₹10,000–30,000+ per person. For couples expect roughly ₹1,000–60,000 total—most common packages fall in the ₹5,000–30,000 range depending on lab and panel breadth.

Karyotyping risks depend on how samples are obtained. Blood sampling carries minimal risks (bruising, infection). Invasive prenatal sampling (amniocentesis or CVS) carries a small risk of miscarriage (roughly 0.1–0.3% for amniocentesis; CVS similar or slightly higher), plus infection, amniotic fluid leak, Rh sensitization, or rare fetal injury. Other risks: false/ambiguous results (mosaicism), lab error, and emotional distress.

Karyotype results usually take 7–14 days for routine chromosome analysis. Prenatal samples (amniocentesis or CVS) can take 10–14 days; some labs report up to 2–3 weeks. Rapid tests (QF‑PCR/FISH) for common aneuploidies give results in 1–3 days, but the full karyotype still needs the standard wait. Cell culture to grow cells often requires 48–72 hours.