Prenatal cytogenetic diagnosis

General aspects

The prenatal cytogenetics analysis consists in a study of fetus karyotype to identify numerical (ex. trisomy 21 or Down syndrome) and the structural anomalies of chromosomes.
Generally it is recommended for pregnant with an increased risk of fetal chromosomal pathology.

Indication for prenatal cytogenetics analysis:
1. maternal age over 35 years;
2. parents have had a son with chromosomal pathology;
3. malformations and anatomic variants diagnosed through ecography;
4. parents carrier of chromosomal alterations (balanced translocations, sexual chromosome aneuploidy, chromosomal mosaic, etc.);
5. positive combined test (nuchal translucency + Bitest) for the numerical anomalies of
chromosomes 21, 13, 18;

In Tecnobios Prenatal Eurogenlab, cytogenetics analysis can be perform on samples of:

1. chorionic villi
2. amniotic fluid
3. fetal blood

Molecular cytogenetics

Thanks to the partnership with other centers in our laboratory is possible to perform the Array-CGH (Array Comparative Genomic Hybridization) technique, with a resolving power until 100 times upper of the traditional techniques of cytogenetics on metaphase, underlining unbalanced regions causing microdeletion syndroms/ duplication or genes responsible of diseases.
That technique have a specific diagnostic indications even in Prenatal Diagnostic, as suggested by the Italian and European guidelines (for ex. De novo or unbalanced chromosomal rearrangements in a fetal karyotype, echo-graphic anomalies).

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