ultrasound diagnosis of fatal anomalies

RENAL AGENESIS
References
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Renal Agenesis
Definition: Unilateral or bilateral absence of fetal
kidneys.
Incidence: Unilateral: one in 600–1000, bilateral:
one in 8000–40 000.
Sex ratio: Unilateral: M:F=1:1, bilateral:
M : F = 2.5 : 1.
Clinical history/genetics: Sporadic, rarely autosomal-dominant
forms (unilateral).
Teratogens: Warfarin, cocaine, diabetes mellitus.
Embryology: Arises around 6–7 weeks after conception.
It occurs due to failure of development
of the ureteric buds of the mesonephros.
Associated malformations: Other renal malformations,
gastrointestinal anomalies, cardiac
anomalies. Over 50 malformation syndromes
have been described.
Associated syndromes: Diabetic embryopathy,
Smith–Lemli–Opitz syndrome, Fraser syndrome,
EEC syndrome, short rib–polydactyly syndrome
types I and III, caudal regression syndrome/
sirenomelia, MURCS association, VACTERL association.
Ultrasound findings: A reduction in amniotic
fluid results in poor visualization of internal
structures, so that detection of the kidney is very
difficult. One cannot visualize the kidney, but the
adrenal gland may appear different in form and
position, lying more caudally than normal. This
may be incorrectly interpreted as renal tissue. The
urinary bladder cannot be demonstrated in
cases of bilateral agenesis. The diagnosis is confirmed
if a repeated ultrasound examination after
an interval of 2 h fails to show the urinary bladder.
After about 18 weeks of gestation, oligohydramnios
or anhydramnios may develop. Color flow
mapping with an angio-mode is very useful in
confirming the absence of renal arteries.
Clinical management: Karyotyping; further
sonographic screening of other organs, including
fetal echocardiography. Instillation of normal saline
into the amniotic cavity improves the visualization
of organs and thus helps confirm the diagnosis.
In addition, this can, exclude premature
rupture of the membranes causing amniotic
fluid loss. Ultrasound examination of the kidneys
of both parents and siblings. In unilateral
renal agenesis, normal antenatal care and
delivery.
Procedure after birth: Ultrasound examination
of the kidneys after birth. In cases of unilateral
agenesis, no further intervention is needed. In
bilateral renal agenesis, the outcome is fatal and
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