Karyotyping is one of first steps and common investigation to explore or rule out chromosomal aberrations such as numerical anomalies (extra chromsome, i.e. Trisomy or a missing chromsome, e.g Monosomy) and structural imbalances.

Karyotyping is one of the oldest and trusted diagnostic techniques available for Prenatal Diagnosis and Fetal Medicine, to rule out gross chromosomal anomalies and common genetic syndromes (like Downs Syndrome) in the fetus.