How is Holoprosencephaly Diagnosed?
HPE is often first seen on an ultrasound of the baby. The right and left sides of the brain may look different than expected. There might also be differences in the baby’s eyes or nose. MRI can be used to get a more detailed look at the baby’s brain and face, as well as check on the other parts of the body. An ultrasound of the baby’s heart (called an echocardiogram) may be recommended because babies with HPE have a higher chance of having heart problems.
Genetic testing may be recommended to look for a cause of the baby’s HPE. This can be done by testing the amniotic fluid during pregnancy (called an “amniocentesis”) or using a blood sample from the baby after they are born.
What Else Can Be Seen with Holoprosencephaly?
About half of babies with HPE can have problems in other parts of their body such as the genitals or urinary tract, fingers or toes, spine, and heart. Babies with genetic syndromes are more likely to have other health problems. HPE might also cause changes in the appearance of the face. These changes can be mild or severe. Some examples include a cleft lip and/or cleft palate, eyes that are closer together or further apart than usual, and a small or missing nose.
What Does an Evaluation for Holoprosencephaly Look Like at Cincinnati Children’s Fetal Care Center?
An evaluation for HPE usually involves two days of appointments.
- On day one, the MRI, ultrasound and fetal echocardiogram are done. In some cases, not all testing can be done on day one. It will be done on day two.
- On day two, the patient and their support person will meet with a nurse coordinator, a social worker, and a genetic counselor. In the afternoon, a team meeting will be held with several specialists present. The specialists may include maternal fetal medicine, neonatology, neurology, and genetics. The team will share images from the MRI and ultrasound and talk about the diagnosis.
Our team is here to support patients through the process and give them the information they need to make the best decisions for them and their baby.