ultrasound diagnosis of fatal anomalies

INFANTILE POLYCYSTIC KIDNEY DISEASE
scan. The transverse or oblique measurements
give higher values, which are incorrect. It is difficult
to detect widening of the ureter. In severe
cases, the ureter can be followed up to its entry
into the bladder. The upper limits for the
widening of the renal pelvis are 5 mm around
20 weeks, and up to 10 mm after 30 weeks. The
presence of oligohydramnios is an unfavorable
sign.
Clinical management: Karyotyping; further
sonographic screening, including fetal echocardiography.
Regular scans to detect development
of oligohydramnios so that early delivery may be
considered if fetal maturity is achieved. In other
cases, this is not necessary, as the renal
parenchyma can recover very well even afterweeks
of renal congestion.
Procedure after birth: An ultrasound examination
should be carried out on the second or the
third day of life. Immediately after birth, diuresis
is usually compromised due to the stress of
labor, and renal congestion is not as pronounced
as it is after a couple of days. Many cases do not
require surgical correction. In these cases, an ultrasound
check-up is recommended at 4 weeks.
If refluxis diagnosed, antibiotics can be given
prophylactically to prevent infection. Which surgical
measures are taken (such as pyeloplasty or
nephrostomy for decompression of obstruction
over several months) depends on the severity of
the findings and on the urologist’s opinion.
Prognosis: After birth, spontaneous remission is
seen in 40% of the cases diagnosed at the prenatal
stage. In the first years of life, treatment-resistant
refluxmay cause irreversible renal damage
due to recurrent urinary tract infection. Surgical
corrections are very successful.
Infantile Polycystic Kidney Disease (IPKD)
Definition: An autosomal-recessive disease in
which normal renal tissue is replaced by
widened renal tubules (1–2 mm). This causes
symmetrical enlargement of the kidneys. Both
kidneys are affected, resulting in renal failure.
Incidence: One in 20 000 to 1 : 50 000 births.
Sex ratio: M:F=1:1.
References
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Clinical history/genetics: Autosomal-recessive
inheritance, rate of recurrence 25%.
Teratogens: Not known.
Associated malformation: Heart disease (VSD),
cysts of the liver, Meckel–Gruber syndrome; also
encephalocele and polydactyly. Trisomy 13.
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