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CLINICAL CYTOGENETICS

Cytogenetics is that branch of genetics which, through the study of the chromosomal structure, allows to identify numerical or structural anomalies associated with specific pathological conditions. Chromosomal ethiogenesis is, in fact, among the main causes of perinatal death, malformative syndromes and mental retardation in the pediatric population.

Chromosome analysis can be performed both in the prenatal and postnatal periods.

  • Cytogenetic analysis in the Prenatal period allows the identification of any numerical or structural fetal chromosomal anomalies,
    The material for karyotype analysis can be represented by: villicorials, amniotic fluid, fetal blood or abortive material.

  • Cytogenic analysis in the postnatal period makes it possible to identify, among other things, balanced structural alterations, potential risk factors for abortion or chromosomal pathologies in the progeny.

List of analyzes that can be carried out in the pre-Christmas period:

Karyotype on amniotic fluid cells
Gestational period 15-17 weeks
Cell culture, diagnosis by differential chromosome staining
Reporting with specific iconographic documentation.

Karyotype on chorionic villi
Gestational period 10-13 weeks
Culture of cytotrophoblastic cells, cytogenetic diagnosis by differential chromosome staining.
Report with photographic documentation of the fetal karyotype.

Karyotype on abortive material
Chorionic cell culture and cytogenetic diagnosis by differential banding
Photographic documentation of the fetal karyotype.

Karyotype on fetal blood
Cell culture of fetal blood lymphocytes (funiculocentesis)
Cytogenetic diagnosis and photographic documentation of the karyotype.

List of analyzes that can be carried out in the post-Christmas period:

Karyotype on peripheral blood
Peripheral lymphocyte culture.
Cytogenetic diagnosis with differential banding method.
Photographic documentation of the karyotype.

High resolution karyotype
Cell culture of peripheral blood lymphocytes.
Cytogenetic diagnosis with induction of chromosomal elongation and differential banding.
Photographic documentation of the karyotype.

Karyotype on medullary tissue
Short-term culture of bone marrow cells for spontaneous mitosis analysis.
Cytogenetic diagnosis with banding and photographic documentation of the karyotype.

citogenetica pre-post natale
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