ultrasound diagnosis of fatal anomalies

THORAX
References
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Diaphragmatic Hernia
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Definition: Diaphragmatic hernia is a defect of
varying size in the diaphragm resulting in displacement
of abdominal content into the
thoracic cavity. They occur most commonly in
the posterolateral part of the diaphragm and are
left sided (75–85 %). Retrosternal location is rare.
Incidence: One in 2000–5000 births.
Sex ratio: M:F=2:1.
Clinical history/genetics: Mostly sporadic. Multifactorial
inheritance: risk of recurrence in a
sibling 2%. Rarely autosomal-dominant or X-
linked transmission.
Teratogens: Unknown.
Embryology: Forms between 5 and 8 weeks.
Associated malformations: Associated anomalies
are expected in almost 75% of cases. Cardiac
anomalies in 20%, CNS anomalies in 30%. Chromosomal
aberrations, particularly trisomy 18,
are also observed. It is also associated with over
30 syndromes.
Associated syndromes: Wolf–Hirschhorn syndrome
(deletion 4 p), Fryns syndrome, Multiple
pterygium syndrome, Pallister–Killian syndrome
(tetrasomy 12 p), partial trisomy 9,
trisomy 18.
Ultrasound findings: A left-sided diaphragmatic
hernia is the most common finding. Displacement
of the heart to the right is obvious. Stomach,
bowel, and parts of the liver may be detected
next to the heart in the left hemithorax. In
cases of the rare right-sided diaphragmatic
hernia, the liver lies in the right hemithorax, displacing
the heart to the left. Organ displacement
and mediastinal shift can lead to obstruction of
the intestines, resulting in hydramnios. This is
prognostically unfavorable. The defect in the diaphragm
is not always seen, so that it is often difficult
to estimate its size (one-sided agenesis of
the diaphragm?).
Clinical management: Sonographic screening,
including fetal echocardiography. Karyotyping.
Counseling of the parents by the pediatrician
and pediatric surgeon concerning the findings
and their possible prognostic significance. Fetal
surgery (tracheal occlusion) is still at the experimental
stage. Premature birth in association
with diaphragmatic hernia has a poor prognosis.
Delivery by cesarean section may be considered
in order to organize intensive therapeutic measures
(ECMO preparation).
Procedure after birth: Ventilation using a nasopharyngeal
mask should be avoided (overventilation
of the stomach). Immediate intubation
and drainage of the stomach contents. High risk
of pneumothorax. Possibly, high-frequency respiration
and application of surfactant. Stabilizing
the neonate for at least 12–24 h is important
prior to surgery. The prognosis is very poor if the
“honeymoon” stage (short-lived improvement
of ventilation) has not been achieved. The role of
ECMO (preoperative or postoperative) is at present
still uncertain, but promising.
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