Congenital malformations - Edocr

CHAPTER 8 HYDROCEPHALUS 65
TABLE 8-2 Recurrence Risk for Siblings of an Infant with Congenital Hydrocephalus
Proband
Male with aqueductal stenosis
Female with any type of hydrocephalus
or male with communicates hydrocephalus
Recurrence Risk for Siblings
12% for male siblings; 6% for females for hydrocephalus
2% for male or female siblings for hydrocephalus
appropriate genetic counseling should be provided
for that disorder and prenatal diagnosis
should be discussed, if applicable. In most other
cases, empiric recurrence risk counseling will
need to be given. Estimated risks for various
categories of patients are given in Table 8-2. In
addition to discussing the risk of recurrence,
parents should be offered sequential high resolution
ultrasound in future pregnancies. The
gestational age at which hydrocephalus develops
is highly variable, however, so parents
should clearly understand that normal findings
in the second trimester when pregnancy termination
is an option do not in any way preclude
the development of hydrocephalus at a later
time in gestation.
REFERENCES
1. Persson EK, Hagberg G, Uvebrant P. Hydrocephalus
prevalence and outcome in a population-based cohort
of children born in 1989-1998. Acta Paediatr.
2005;94:726–32.
2. Weller S, Gartner J. Genetic and clinical aspects of
X-linked hydrocephalus (L1) disease): mutations in
the LICAM gene Hum Mutat. 2001;18:1–12.
3. Goldstein I, Copel JA, Makhoul IR. Mild cerebral
ventriculomegaly in fetuses: characteristics and outcome.
Fetal Diagn Ther. 2005;20:281–4.
4. Von Koch CS, Gupta N, Sutton LN, et al. In utero
surgery for hydrocephalus. Childs Nerv Syst.
2003;19:574–86.
5. Stein SC, Feldman JG, Apfel S, et al. The epidemiology
of congenital hydrocephalus. A study in Brooklyn,
N.Y. 1968-1976. Childs Brain. 1981;8:253–62.