Diagnostic ultrasound ( PDFDrive )

CHAPTER 36 The Fetal Chest 1263
A
Right
Left
B
C
FIG. 36.15 Eventration of the Hemidiaphragm. (A) Transverse
view of the thorax demonstrates the stomach in the thorax with
mild mediastinal shift. (B) Coronal and (C) sagittal T2-weighted MRI
shows the high position of stomach with intact diaphragm.
perinatal mortality rate compared to CDH and may not require
surgical repair. hus it is crucial to make the distinction between
the two diagnoses to provide appropriate counseling.
Associated Anomalies
CDH may be an isolated defect or may be associated with other
structural, chromosomal, or syndromal anomalies. Associated
anomalies are present in 25% to 55% of cases. Congenital heart
disease is the most common association (20%), with hemodynamically
signiicant heart disease in 11% of cases. 230-232 Because
of the high rate of associated cardiac abnormalities, formal fetal
echocardiography is indicated in fetuses with CDH.
Associated central nervous system anomalies are second
in frequency of associated structural abnormalities in fetuses
with CDH; these anomalies include anencephaly, ventriculomegaly,
and neural tube defects. 191 Chromosomal abnormalities
occur in 10% to 20% of antenatally detected CDH, the
most common being trisomy 18. 192,193 Chromosomal abnormalities
are most common when CDH is present in association
with other structural abnormalities. Given the high association
with aneuploidy, chromosomal assessment is typically performed.
Associated syndromes include Fryn, Beckwith-Wiedemann,
Simpson-Golabi-Behmel, Brachmann–de Lange, and
Perlman. 195