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Page 61
alliedacademies
September 20-22, 2017 | Toronto, Canada
10 TH AMERICAN PEDIATRICS HEALTHCARE &
PEDIATRIC INFECTIOUS DISEASES CONGRESS
Pediatric Healthcare & Pediatric Infections 2017
Congenital Neural Tube Defects (NTD) are common
malformations both as an isolated form and a part
of genetic syndromes. Extraordinarily fast development
of molecular genetics confirms that almost all NTD are
genetically dependent in terms of aberrations in different
regions of a chromosome or single gene m utations. On the
other hand, NTD are an important component of diverse
genetic diseases, inclu ding monogenic and metabolic
disorders with mutations (often called polymorphism)
genes responsible for the condition of the MTHFR gene.
The genes participating therein are located nearly on each
chromosome, mainly on pathways, along with ligand genes
and co-factors, transcription factors or individually. Many
mechanisms on NT development are based on the balance
between apoptosis, proliferation and migration. Crucial
genes controlling fetal development, including the creation
of neural tube and the forming of vertebral continuity are
primary “homeobox” genes grouped in 4 clusters HOX1-4.
Other genes condition the for ming of different structures.
The most important pathways are Shh, Wnt, FGF, Notch,
and BMP. These pathways are closely connected with
other structures of the body, like conus heart, thymus,
intestinal tract, skin, or symphatic nervous system. The most
complicated is closing of column. On the one hand, this
process does not depend on one but on numerous genes,
especially Pax3 and Pax7, and, on the other hand, it depends
on proper work mainly of Folic Acid Path, as well as vitamin
B12, and choline. Neural development is also affected by
the imprinting (about 30 genes) and the inactivation of the
X chromosome in day 21s of embryo development. In our
daily prenatal practice we are able to find specific NTD as
soon as 12th week of gestation but our target is to confirm
if NTD may be of truly isolated nature or non-specific mild
ultrasound co-markers. As you can see above, we have a
lot of information and we can prevent many open NTD, but
still affected children are born. It means that our knowledge
about it is not yet complete. Presently, we have some
possibilities to help the baby in uterus to close peripheral
open NT if it’s not too big and has isolated nature.
e:
The genetic background of human neural tube development in the aspect of prenatal diagnosis
Krzysztof Piotrowski
Pomeranian Medical University, Poland