Molecular Karyotype

Molecular karyotype analysis in the prenatal period allows to monitor the health of the fetus during pregnancy in order to detect diseases of the fetus itself.

Molecular karyotyping is performed on fetal cells collected through amniocentesis, or chorionic villus sampling, and is able to analyse the entire fetal genome for genomic abnormalities of small size (for example 1 Mb), which can cause genetic diseases, that are not detectable by conventional karyotype. In addition, molecular karyotype, unlike the conventional one, does not require cell cultures. Therefore it is possible to reduce the reporting time to 3-5 days.

Microgenomics laboratory has developed array platforms designed for molecular karyotype analysis in prenatal diagnosis. These platforms allow us to optimize the specificity and sensitivity of the analysis and to provide highly accurate results.

Moreover, analyses are performed by professionals who have gained high competence and experience in molecular karyotyping in prenatal diagnosis.

Molecular karyotyping in the prenatal period is particularly indicated in the following cases:

  • Defects in fetal development detected by ultrasound
  • Chromosomal abnormalities in the fetus identified by conventional karyotype analysis
  • Spontaneous abortion in previous pregnancies
  • Chromosomal abnormalities in a previous child
  • Parent with a chromosomal structural rearrangement
  • Family history of genetic diseases
  • Positive screening test

For more information or browse the List of pathologies investigated by the Array-CGH analysis, please refer to our Prenatal diagnosis brochure.

For further informations about collection and shipment of samples, and to receive analysis application forms or other clarifications please write to