ultrasound diagnosis of fatal anomalies

CHARGE ASSOCIATION
Fig. 11.7 Body stalk anomaly. Demonstration of
the fetal head within the amnion as well as an omphalocele-like
structure outside the amnion in the
extraembryonic celom, in a case of body stalk
anomaly at 9 + 3 weeks.
in most cases. Obstetric intervention due to fetal
distress should be avoided.
Procedure after birth: Intensive medical treatment
of the neonate should be avoided.
Prognosis: In case of full expression of the
anomaly, the outcome is fatal. Only mildly affected
individuals may survive. See also the section
(8.4 above) on amniotic band syndrome.
References
Becker R, Runkel S, Entezami M. Prenatal diagnosis of
body stalk anomaly at 9weeks of gestation. Fetal diagnosis
and therapy 2000; 15: 301–3.
Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R.
Maternal uniparental disomy of chromosome 16 and
body stalk anomaly. Am J Med Genet 2000; 94: 284–6.
CHARGE Association
Definition: CHARGE is the acronym for
coloboma, heart disease, atresia of choanae, retarded
mental development, genital hypoplasia,
ear anomalies and deafness.
Incidence: Rare; only 200 cases have been described.
Origins/genetics: Mostly sporadic occurrence
(multifactorial inheritance), occasionally autosomal-dominant.
The cause appears to be a disturbance
in differentiation at the embryonic
stage between the 35th and 45th day after con-
Ginsberg NE, Cadkin A, Strom C. Prenatal diagnosis of
body stalk anomaly in the first trimester of pregnancy.
Ultrasound Obstet Gynecol 1997; 10: 419–21.
Hiett AK, Devoe LD, Falls DG, Martin SA. Ultrasound diagnosis
of a twin gestation with concordant body
stalk anomaly: a case report. J Reprod Med 1992; 37:
944–6.
Jauniaux E, Vyas S, Finlayson C, Moscoso G, Driver M,
Campbell S. Early sonographic diagnosis of body
stalk anomaly. Prenat Diagn 1990; 10: 127–32.
Martinez JM, Fortuny A, Comas C, et al. Body stalk
anomaly associated with maternal cocaine abuse.
Prenat Diagn 1994; 14: 669–72.
Paul C, Zosmer N, Jurkovic D, Nicolaides K. A case of
body stalk anomaly at 10 weeks of gestation. Ultrasound
Obstet Gynecol 2001; 17: 157–9.
Shalev E, Eliyahu S, Battino S, Weiner E. First trimester
transvaginal sonographic diagnosis of body stalk
anomaly [correction of anatomy]. J Ultrasound Med
1995; 14: 641–2.
ception. In sporadic forms, the risk of recurrence
is 1%.
Clinical features: Mental impairment, ocular
coloboma; rarely, microphthalmia and anophthalmia
are present. The choanal atresia is usually
bilateral. Dysplasia of the auricles, hearing
impairment, and deafness may also be detected.
Typical cardiac anomalies consist of persistent
Botallo’s duct, ASD, VSD, tetralogy of Fallot, and
AV canal. Seventy-four percent of cases show hypoplasia
of the genitals. In addition, growth retardation,
facial clefts, atresia of the esophagus,
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