Methods of chromosomal examination

Microarrays (see question No. 32 – Molecular cytogenetics)
 * Karyotyping (see question No. 33 - Human karyotype, methods of its examination)
 * Analysis of acquired chromosomal aberrations:
 * conventional staining of chromosomes with Giemsa dye solution only - detection of chromosome breakage results (acentric fragments, double minutes, dicentric chromosomes, ring chromosomes, chromosome breaks, chromatid breaks,...)
 * SCE (sister chromatid exchange) – using of BrdU during cultivation, differential staining of sister chromatids
 * FISH (fluorescent in situ hybridization) (see question No. 32 – Molecular cytogenetics)
 * NIPT (non-invasive prenatal testing):
 * analysis of cell-free DNA (cfDNA) fragments of fetus in maternal circulation (test performed from maternal blood sampling), used as a screening method to search primarily for chromosomal aneuploidies, sex of the fetus or Rhesus blood type
 * different modifications include also detection of microdeletions or even whole karyotype scan
 * 10 weeks of pregnancy or later
 * methods of analysis are different (different companies) – based on PCR, CGH-arrays or next generation sequencing