Is there prenatal testing for Alagille syndrome?
Once a mutation or deletion is identified in a child with Alagille syndrome, parents and other family members can be tested for the gene change. If a person is found to carry the mutation or deletion, he or she has a 50 percent chance of passing it on in a pregnancy. During a pregnancy, the fetus could be tested for the mutation with standard prenatal testing (chorionic villus sampling or amniocentesis). But while prenatal testing can determine if the fetus has inherited a Jagged1 mutation or deletion, it can’t predict the severity of the disorder, which might range from serious cardiac and liver disease to more benign manifestations. Other prenatal tests — such as a fetal echocardiogram designed to look for severe heart defects — may offer some further information, but they are also limited.
