What problem in embryogenesis lead to these findings?
This is early amnion disruption. The developing fetal ventral body wall does not develop normally. There can be formation of fibrous adhesions. Disruptions are asymmetric and variable. Torso, extremities, and/or head can be affected.
Name the abdominal wall defect.
This is gastroschisis, which is a ventral abdominal defect uncovered by skin or membranes and located to the right or left of midline. The umbilical cord is at the defect's margin.
What is scoliosis?
Curvature of the spine.
What would a karyotype show?
What is the name for this abnormality?
Limb-body wall complex. Since about 40% of cases are accompanied by fibrous bands (amniomic bands), the term amnionic band syndrome is sometimes applied.
In some cases, a skull defect is present, but cerebral tissue is seen. What is the name for this?
Exencephaly. This is the rarest form of neural tube defect. It is a disruption, not a malformation inherent to the neuraxis.
What chromosomal abnormalities will lead to abnormalities in the triple screen?
Down syndrome (trisomy 21) results in a low AFP, low uE3, and high HCG.
Edwards syndrome (trisomy 18) leads to a low AFP, low uE3, and low HCG.
(The results of this screen are generally interpreted based upon increased risk, e.g. 1 in 200, because there is no absolute value that is diagnostic.)