Cytogenetics

The cytogenetics laboratory provides the standard chromosome analyses on all tissue types for diagnostics of numerical and structural chromosome abnormalities, which can be detected under the light microscope.

Indications for prenatal diagnostic testing

– Child with chromosomal abnormality
– Advanced maternal age (>37 y at expected date of delivery)
– Positive screening test (nuchal translucency measurement or combined screening test with adjusted risk > 1:300 and < 1:30)
– Parental chromosomal rearrangement
– Positive NIPT (noninvasive prenatal screening of cell free fetal DNA from maternal plasma)

– Recurrent miscarriage (two or more miscarriages)
– Ambiguous genitalia in newborn
– Female and male infertility
– Menstrual disorders
– Familial chromosome rearrangement
– Child with chromosome rearrangement
– Ring chromosome 20 suspected
– Chromosome syndrome suspected

Postnatal samples: peripheral blood and other solid tissues (skin, muscle,…).

Test turnaround time
The average turnaround time for prenatal samples ranges from 14 to 21 days and up to 7 days for urgent or 3 to 4 weeks for non-urgent postnatal blood samples from the time the samples are received.