Research Paper on Holoprosencephaly

What is Holoprosencephaly? Holoprosencephaly is a disorder that appears when the embryonic forebrain doesn't divide into the two lobes of the cerebral hemispheres ("Holoprosencephaly Information Page"). However this happens, let’s get into probable causes. There hasn’t been much research done as to why this happens but there are some theories. One thing thought to cause Holoprosencephaly is drinking during the pregnancy. Although this is not a for sure cause, a mutation in chromosomes is. With saying it is a chromosome mutation, that does not mean its genetic or that all other conceived children will have it. HPE is short for Holoprosencephaly and it can normally be detected in the first 3-5 weeks of the pregnancy. There are three different types of Holoprosencephaly and each has to be addressed differently. ("Holoprosencephaly Information Page"). Holoprosencephaly is not a disorder to be taken lightly. 

There are not many ways to check for HPE but here are some of the practices used. Holoprosencephaly is usually detected during routine ultrasounds. This is the most common way to initially check for it too. However, if the ultrasound doesn’t pick up the early development then there are other ways to see this. If it is detected by an ultrasound, they will use other methods to confirm. One of the things used to double check the diagnosis is uteral MR’s. This is where they go in to see the brain structure. With Holoprosencephaly being a disorder targeting the brain structure, this shows very easily as long as it is not a mild case. Another practice used is CT scans. This scan allows the doctor to see the brain growth and development. With HPE it is important to monitor these things in case fluid begins to build on the brain (Holoprosencephaly). All in all, these tests are reliable as long as the case of Holoprosencephaly is not mild. 

There are three types of holoprosencephaly: lobar, semilobar, and alobar. Lobar is the least severe of the three. With Lobar Holoprosencephaly “. . .the brain is almost completely divided into two halves, with normal or almost normal brain and facial development.” (“Holoprosencephaly”). Lobar is hard to see on the scans done to diagnose holoprosencephaly. The next step up in severity is semilobar. Semilobar Holoprosencephaly is intermediate in terms of being severe. With semilobar the forebrain fails to split properly. The structures of all brain lobes are present but do not work to full capacity. There are mild face deformities that come with this as well. The third and final type is Lobar holoprosencephaly. This is the most severe of the three. Lobar is where the two main lobes of the brain do not split at all. This puts the baby at risk of dying from a stroke. With Lobar comes severe facial deformities. This raises the risk of fluid on the brain which leads to needing a shunt (Bickel). A shunt is used to help drain the fluid on the brain. All types have very minimal expectations for making it past birth.