Karyotyping

Karyotyping is a laboratory test that visualizes a person’s chromosomes arranged by size, shape and number under a microscope. It detects numerical and structural chromosomal abnormalities—trisomies, monosomies, translocations, deletions and duplications. It’s used in prenatal screening, infertility and recurrent miscarriage evaluation, genetic counseling, and in diagnosing or classifying some cancers and guiding treatment planning.

A karyotype test analyzes a baby’s chromosomes to check their number and structure, detecting conditions like Down, Edwards, Patau syndromes and sex‑chromosome abnormalities. It’s performed on fetal or newborn cells obtained via amniocentesis, chorionic villus sampling, or blood. Results confirm chromosomal variants and help guide medical care, prognosis, and genetic counseling for parents.

A normal female has a 46,XX karyotype: 46 total chromosomes organized as 22 pairs of autosomes plus two X sex chromosomes. One X chromosome is typically inherited from each parent. A normal karyotype indicates the expected chromosome number and gross structure, without large-scale numerical abnormalities (like trisomies or monosomies) or major structural rearrangements.

Karyotyping in IVF is chromosomal analysis used to detect numerical or structural abnormalities in parents or embryos. Parental karyotyping uses a blood sample to identify balanced translocations or rearrangements that can cause infertility or recurrent miscarriage. Embryo karyotyping (via preimplantation genetic testing and embryo biopsy) assesses aneuploidy to help select chromosomally normal embryos, improving implantation success and reducing miscarriage risk.

Karyotyping itself is low-risk, but risks depend on how the sample is obtained. Blood draws can cause bruising, infection or phlebitis. Prenatal sampling (amniocentesis/CVS) carries additional risks including miscarriage, infection, bleeding, amniotic fluid leak and Rh sensitization. Results can be uncertain, miss small DNA changes, or produce false positives/negatives, causing emotional distress and follow-up testing.

Costs vary widely: in the United States a standard karyotype typically runs about $300–$2,000 (more for specialized analyses), in the United Kingdom it’s generally provided free on the NHS or £250–£800 privately, and in India private prices are roughly ₹1,500–₹6,000. Final charge depends on the lab, test complexity (standard karyotype versus microarray) and insurance or public coverage—confirm with your provider.