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Monogenic Fetal Diseases

The Fetal Monogenic Diseases level analyzes specific diseases associated with single genes (monogenic diseases).

Genetic disorders can be inherited in an autosomal dominant (one parent is affected), autosomal recessive (both parents are healthy carriers), or sex chromosome-associated manner. Some genetic disorders also have a de novo onset, that is, not transmitted by parents but produced in a casual way.

With the exception of beta thalassemia, the autosomal recessive genetic disorders analyzed have no symptomatic effect in the healthy carrier; for this reason there is a risk that two apparently healthy subjects may produce offspring affected by a disorder that both of them carry.

In cases of genetic disorder with a de novo onset, the parental analysis cannot detect any anomalies, as this is solely borne by the fetus and cannot be foreseen.

Cystic Fibrosis (GENE CFTR)
Congenital deafness (GENE GJB2)
Beta thalassemia (GENE HBB)
Rett syndrome (GENE MECP2)
Hemochromatosis (GENE HFE)
Achondroplasia (GENE FGFR3)
Hypochondroplasia (GENE FGFR3)
Thanatophoric dysplasia (GENE FGFR3)
Apert Syndrome (GENE FGFR2)
Crouzon Syndrome (GENE FGFR2)
Leopard Syndrome (PTPN11 GENE)
Phenylketonuria (PAH GENE)
Noonan syndrome
(GENES PTPN11 / SOS1 / RAF1)
al congenital adrenal hyperplasia due to 21-hydroxylase deficiency (GENE CYP21A2)
Autosomal recessive polycystic kidney (PKHD1)

Table comparison