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/