ultrasound diagnosis of fatal anomalies
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CATARACT
Procedure after birth: In the case of fresh and
severe bleeding, a transfusion of erythrocytes
and platelets should be kept ready. Intensive
medical intervention may be withheld in the
most severely affected newborns. Magnetic resonance
imaging is the best method for detecting
associated vessel malformations.
Prognosis: This depends on the severity of brain
damage and the cause of the bleeding, such as
infection. As a result, hydrocephalus or porencephaly
may develop.
References
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Cataract
Definition: Echogenic lenses of the eye, which
can be seen with high-frequency ultrasound
(e.g., 7 MHz transvaginal sonography).
Incidence: Rare.
Clinical history/genetics: Family history, isolated
finding resulting from autosomal-recessive
or autosomal-dominant transmission.
Teratogens: Unknown.
Ultrasound findings: The earliest diagnosis was
made at 15 weeks with a positive family history.
Otherwise, prenatal diagnosis is unlikely.
Differential diagnosis: Infections (cytomegalovirus,
rubella, toxoplasmosis, varicella),
coloboma, congenital aniridia, microphthalmia,
glucose-6-phosphate dehydrogenase deficiency,
homocysteinuria, arthrogryposis, chondroplasia
punctata, Hallermann–Streiff syndrome, hypochondroplasia,
Kniest syndrome, Marfan syndrome,
Roberts syndrome, Smith–Lemli–Opitz
syndrome, Walker–Warburg syndrome.
Clinical management: Genetic counseling,
TORCH serology.
Procedure after birth: Early ophthalmic treatment
can prevent the development of severe
amblyopia.
Prognosis: Variable, depending on the associated
anomalies. Surgical treatment of isolated
cataracts is very successful.
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