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A. Head, neck and spine
1. Hydrocephalus
Diagnosis: the lateral ventricular diameter should be less than or equal to 1.0 cm throughout gestation.
b. Etiology
(1) Aqueductal stenosis, most common (40%) (2) Communicating hydrocephalus (3) Dandy-Walker malformation
c. Associated malformations are present in
2. Dandy-Walker Malformation
Diagnosis: complete or partial absence of cerebellar vermis with cystic dilation of the fourth ventricle
b. Associated anomalies are
not be detectable on US
3. Neural Tube Defects
a. Definition: a group of malformations resulting from failure of closure of the neural tube, including anencephaly, encephalocele, and spina bifida
b. Diagnosis:
(1) Cranial signs-present in 98% of cases
(2) Spinal views, transverse and longitudinal
4. Choroid Plexus Cysts
a. Diagnosis: may be unilateral or bilateral, and of variable sizes b. Incidence: common, found in 50% of autopsies
c. The presence of choroid plexus cysts should
MANAGEMENT
A. Perinatal management team
1. Obstetrician
2. Perinatologist
3. Support personnel
4. Genetic counselor
5. Pediatrician
6. Neonatologist
7. Pediatric surgeon
B. Goals birth defects
1. Inform and prepare family for the birth of an infant with an anomaly
2. Determine whether discussion regarding pregnancy termination is warranted
3. Consider the need for further diagnostic tests and in utero treatment (medical
or surgical)
4. Assess the need for delivery in a tertiary center, as well as special delivery
room personnel (e.g., pediatric surgeon or cardiologist)