Congenital malformations - Edocr

CHAPTER 39 RENAL AGENESIS 259
variable expressivity in majority of these families. 17
But autosomal recessive and X-linked inheritance
have also been described. The recurrence
risk will also depend on the etiology in the index
patient and the presence or absence of an
associated syndrome. The recurrence risk for an
infant with renal agenesis and a negative family
history is reported to be in the range of
3–5%. 15,18 The recurrence rate is reported to be
about 8% if renal agenesis is part of a complex
of multiple abnormalities. The recurrence risk in
families with autosomal dominant pattern of inheritance
would be much higher and closer to
50%. Level II prenatal ultrasound should be offered
for all subsequent pregnancies. Figure 39-1
provides an algorithm to help establish etiology
and the likely recurrence risk in patients with
renal agenesis.
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