Karyotyping
Pronunciation: KAIR-ee-oh-ty-ping
Chromosomal analysis used to identify genetic abnormalities that may affect fertility or pregnancy outcomes.
Full Definition
Karyotyping is a laboratory technique that examines the number and structure of chromosomes in a cell sample. In reproductive medicine, karyotyping is performed on couples with recurrent pregnancy loss, repeated IVF failure, or severe male factor infertility to identify chromosomal abnormalities. Common findings include balanced translocations, sex chromosome abnormalities, and mosaicism. Results inform genetic counseling, treatment planning, and the potential need for preimplantation genetic testing. Standard karyotyping examines 20 metaphase cells and can detect abnormalities in approximately 5% of infertile couples.
Usage
Usage note: Results are typically reported in standard cytogenetic nomenclature (e.g., 46,XY for normal male).
In Context
- "Karyotyping revealed a balanced translocation in the male partner." — Genetic report
- "Normal karyotyping results ruled out chromosomal causes of recurrent loss." — Investigation summary