2024 Volume 33 Issue 5 Pages 331-338
The diagnosis of congenital pediatric neurosurgical diseases is often difficult since these diseases are not encountered frequently. One of the methods to confirm the diagnosis is molecular genetic testing by using methods such as the Sanger method, methyl CpG binding protein analysis using multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray analysis (CMA). Moreover, mutation analysis using next-generation sequencers (NGSs) has improved the diagnosis rate and reduced the time needed for diagnosis. When a clinical diagnosis can predict a certain responsible gene, it is understood that the mutation in the responsible gene has been analyzed by the Sanger method. When a clinical diagnosis leads to multiple candidate genes, multi-gene panel testing is available. If a clinical diagnosis is not certain, chromosome analyses, including G-banding and CMA, are performed at first, followed by whole exome sequencing. For such molecular genetic analysis, NGSs are routinely used.
From 2012 to 2022, we performed genetic testing for 72 cases in our department, and 43 cases were genetically diagnosed. The overall diagnosis rate was 59.7%. The major target diseases were craniosynostosis (18 cases), megalencephaly (14 cases), hydrocephalus (11 cases), and porencephaly (10 cases). NGSs were the most common test method, with 37 tests, showing that an NGS analysis is indispensable to molecular genetic diagnosis.
As has been established, molecular genetic diagnosis is indispensable for an accurate prediction of the prognosis and selection of treatment options for patients. In the near future, it will be used for the selection of gene therapy methods. Moreover, it can be used for genetic services for family members of patients and prenatal diagnosis of the next child. Consequently, for patients and family members of the patients, genetic counseling based on accurate knowledge can assist in the understanding of the patient's condition accurately and help select suitable future options autonomically. Therefore, keeping oneself updated about the latest knowledge on molecular genetic diagnosis and recognizing the role of genetic counseling is imperative for every clinician.
