Prenatal Diagnosis

Thanks to our partnership with the Consultorio di Genetica srl, one of the most important cytogenetic and genetic laboratories in Italy, it is possible to find solutions for every type of prenatal problem known about today at the Genoma Laboratory.

The Prenatal Diagnosis Centre is able to carry out all the diagnoses that are available today in the prenatal period (immunological, biochemical, contagious, cytogenetic and molecular) on chorionic villi, amniotic fluid and blood from the umbilical cord. This allows prospective parents to obtain absolutely up-to-date information on any eventual problems right from the first weeks of foetal development, and, as a result of this, quickly arrange for therapeutic solutions aimed at protecting the health of the unborn child and guaranteeing him/her the best conditions of life.

The diagnostic activity of the Prenatal Diagnosis Centre takes place within two principal areas of prenatal checks:

 

Traditional prenatal diagnosis

This consists of carrying out a cytogenetic analysis on the foetus for the most common chromosome defects that may be present at birth, such as trisomy 21 syndrome or Down’s syndrome, or less common aneuploids, such as those affecting chromosomes 18, 13, X, Y or other chromosomes, both by determining the foetal karyotypes with cell culture that takes about 15 days, or in 24/48 hours, using a special molecular cytogenetic examination, known as fluorescent in-situ hybridisation (FISH).

This last procedure has recently been replaced by a molecular evaluation technique of the chromosomic aneuploids, more advanced and completely automated, called quantitative fluorescent-polymerase chain reaction (QF-PCR).

Molecular Prenatal Diagnosis

This involves carrying out on the foetus, as well a traditional cytogenetic exam, further checks through analysis of the DNA for gene mutations associated with the most frequent and serious genetic illnesses.

Patients, therefore, have the possibility of obtaining, in a very short time, a multiple genetic screening, aimed at the diagnosis of serious illnesses, such as cystic fibrosis, fragile X chromosome syndrome (mental retardation), Beta thalassaemia, congenital deafness, Duchenne’s muscular dystrophy, myotonic dystrophy, and many other genetic diseases.

The foetus, furthermore, can be monitored with molecular techniques, for infective agents such as cytomegalovirus (CMV), herpes simplex (HSV), varicella-zoster (VZV), rubeovirus, HIV, Toxoplasma gondii, parvovirus.