ultrasound diagnosis of fatal anomalies

UROGENITAL TRACT
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Normal male genitals. 33 weeks of gesta-
Fig. 7.1
tion.
Genital Anomalies
Definition: In the prenatal scan, genital anomalies
are diagnosed either as intersexual forms or
as discrepancies between ultrasound findings
and chromosomal findings.
Clinical history/genetics: Heterogeneous causes
are known: 1, chromosomal anomalies; 2, gene
mutation; 3, combined chromosomal and
molecular defects; 4, multifactorial inheritance;
5, nongenetic causes (Table 7.1).
Incidence: With the exception of trisomy 13 and
triploidy, chromosomal anomalies are rare.
Single-gene anomalies such as the adrenogenital
syndrome have an incidence of one in 15 000
births; hypospadias: one in 1000 male births.
Associated malformations: Xp duplication: facial
clefts, ventricular septal defect. In addition
to pseudohermaphroditism and actual intersexuality,
intersexual genitals are found in trisomy
13, triploidy, 13 q syndrome, camptomelic dysplasia,
Smith–Lemli–Opitz syndrome, and in
other very rare syndromes.
Ultrasound findings: Although the genitals are
seen clearly, it is difficult to classify the gender
correctly, the penis appearing too small or bent.
The scrotal sac appears to be divided. A definite
discrepancy is noted between the ultrasound sex
determination and the chromosomal sex.
Clinical management: If the family history suggests
adrenogenital syndrome, chorionic villous
sampling should be performed, and HLA typing
is also possible. An affected female fetus can thus
be treated very early in the prenatal stage (even
at the end of the first trimester) to minimize virilization.
Prognosis: This depends on the underlying disease;
in adrenogenital syndrome, the prognosis
is very favorable if therapy is started early.
Self-Help Organization
Title: Congenital Adrenal Hyperplasia
Description: Offers educational and
emotional support to families of children with
congenital adrenal hyperplasia. Provides information
and referrals, pen-pal program,
phone support, annual convention, networking.
Quarterly newsletter. Assistance in
starting new groups.
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