ultrasound diagnosis of fatal anomalies

UROGENITAL TRACT
Ultrasound findings: Both kidneys are considerably
enlarged (above the 95th percentile for the
gestational age). The renal parenchyma is very
echogenic, and structural differentiation is absent.
The bladder is almost empty. Severe oligohydramnios
may develop, usually after 20 weeks
of gestation. The circumference of the abdomen
is increased due to enlarged kidneys.
Differential diagnosis: Bilateral polycystic renal
dysplasia, Meckel–Gruber syndrome. Trisomy
13, adult or autosomal-dominant polycystic kidney
disease.
Clinical management: Karyotyping, further
sonographic screening, including fetal echocardiography.
Ultrasound of the kidneys of both
parents and siblings (adult form of polycystic
kidney disease?). Exclude premature rupture of
membranes causing amniotic fluid loss, regular
scans to monitor amniotic fluid index. Vaginal
delivery.
Procedure after birth: Hypoplasia of the lungs is
expected. In the prenatal stage, a pediatrician
should be consulted and the parents should be
counseled regarding clinical management in the
neonatal stage.
Prognosis: Intrauterine fetal death is the usual
outcome. Only a small number survive the first
year of life. All affected children develop renal
insufficiency before adulthood.
Fig. 7.14 Infantile polycystic kidney disease.
Cross-section of the fetal abdomen at the level of the
kidneys, 23 + 0 weeks. Autosomal-recessive inheritance
of the infantile form of polycystic kidney. Both
kidneys are large and well visualized as echo-dense
structures.
1
2
3
4
5
Fig. 7.15 Infantile polycystic kidney disease. Same
fetus, longitudinal section.
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