The foetal karyotype is the set of all the chromosomes of the foetus, stained with a banding pattern and arranged in order. Studying the karyotype allows us to detect alterations in the number of chromosomes (monosomies, trisomies, and triploidies) and any structural alterations in the chromosomes (translocations, inversions, deletions, and duplications), whether they are balanced or unbalanced.
Foetal karyotype studies require an invasive technique to obtain foetal cells which are then cultured in the laboratory. Either desquamated foetal cells collected from amniotic fluid or cells obtained from a chorionic villus biopsy are used.
A foetal karyotype study is recommended in cases where there is a suspected chromosomal abnormality as follows:
A foetal karyotype study allows us to detect:
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