Treatment for holoprosencephaly

The treatment plan for holoprosencephaly would either be to terminate the pregnancy or to carry out the pregnancy with hopes that the child is one of the one percenters that do survive. Below are a couple of videos with the different choices.

This video shows this precious baby that did not survive, but the family did a photo shoot to honor her.

 

 

This story is a beautiful story of the struggles of this family going through this hard time. Thomas had lived for a few days after birth.This family did get pregnant again and had a beautiful baby girl that did not have holoprosencephaly.

 



 

 

The President of Families for HoPE explains how she came to develop Families for HoPE and provide conferences for other families to connect with each other.

 



I hope you enjoyed these videos and were able to have a grasp of the different severity of holoprosencephaly.

Signs and Symptoms

There's not really much signs or symptoms for holoprosencephaly, which is detected by ultrasound. Below are some videos that show the brain malformation and another videos with some of the kids that made it through birth and onto life or had passed after having a life.

 

 

 

 

 

As you can see in this video, there are different medical issues with each type of holoprosencephaly.

Analyzing.....

     To diagnose holoprosencephly, there are a few ways to do this. The first suspicion would come from the prenatal ultrasound that shows an alober brain. A semilobar or lobar holoprosencephaly cannot be reliably detected. Lobar can be recognized by in utero sonography. An MRI may show some abnormalities in a 30 week old fetus. When holoprosencephaly is found on an prenatal ultrasound, a high-resolution ultrasound is used to determine the presence of other anomalies.

     If there is a family history of holoprosencephaly, the mother may get a genetic testing done. This may be done by extracting DNA cells from the amniocentesis at about 15 to 18 weeks of gestation. A chorionic villus sampling may be obtained by 10 to 12 weeks of gestation.

     If the baby is born, a CT scan or an MRI will be used to confirm the diagnosis.

     To establish the extent of the disease, there may be further evaluations to follow up on. The baby/child by have some growth deficiencies which measuring the height, weight, and the head circumference is important. Some blood work would be a thyroid function test, bone age, a complete blood count, chemistries, sedimentation rate, insulin-like growth factor 1, and insulin-like growth factor binding protein 3.

 

     This link, http://europepmc.org/articles/PMC4131980/figure/F3/, has a great table that shows the diagnostic evaluation and clinical management of children with holoprosencephaly. I recommend that you do click on this link!

 

Reference

Solomon, B.D., Gropman, A., Muenke, M. (2013). Holoprosencephaly overview. Ncbi. February 14,

     2016, from http://www.ncbi.nlm.nih.gov/books/NBK1530/ 



What, How, and Why

February 5, 2016

What (causes holoprosencephaly):

The exact cause is unknown. There are some speculations that it could be genetic and or from the environment. Environment risk factors would include maternal diabetes, infections during pregnancy (syphilis, toxoplasmosis, rubella, herpes, cytomegalovirus). The mother could have taken various drugs, whether it was a prescribed medication or street drugs. The mother could also had a previous pregnancy loss or had bleeding during the first trimester (Carterdatabase). There have been six human genes that have been found to be associated with holoprosencephaly and seven other defective chromosome loci to be linked. The six genes are: SHH, SIX3, ZIC2, TGIF, PTCH, and DKK (Roesler, 2006). The SHH gene, which provides instructions for making a protein called Sonic Hedgehog, was the first known gene to cause holoprosencephaly. This protein functions as a chemical signal that is essential for the embryonic development. It plays an important role in cell growth, cell specializations, and the normal shaping of the body. It's very important for the development of the brain and spinal cord, eyes, limbs, and other parts of the body.



Sonic Hedgehog protein

How and Why:

There is a malformation of the brain during the first four weeks of embryogenesis. It results in an incomplete cleavage of the cerebral hemispheres. The Sonic Hedgehog protein is necessary for the development of the forebrain. It helps establish the line that separates the right and left sides of the forebrain. Specifically the midline for the underside of the forebrain, making the ventral surface (SHH gene, 2016).

There are more children surviving mild to moderate forms of holoprosencephaly and into adulthood. Most children have severe motor impairment with varying degrees of functional expressive speech and language skills.
 

 

 

 

References



The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. (n.d.).
     Retrieved February 5, 2016, from http://www.carterdatabase.org/hpe/

Roesler, C. P., Paterson, S. J., Flax, J. S., Kover, C., Stashinko, E. E., ...Benasich, A. A. (2006). Links
     between abnormal brain structure and cognition in holoprosencephaly. Pediatric Neurology,
     35(6), 387-394. http://doi.org/10.1016/j.pediatrneurol.2006.07.004

SHH gene. (2016, February 1). Retrieved February 5, 2016, from http://ghr.nlm.nih.gov/gene/SHH