ultrasound diagnosis of fatal anomalies

AMNIOTIC BAND SYNDROME
Fig. 8.1 Achondroplasia. Fetal profile in achondroplasia
at 37+5weeks,showing typical frontal bossing,
flattened nasal bridge, and hypoplasia of the
middle facial area.
Procedure after birth: Radiography of the
skeletal system confirms the diagnosis. Hydrocephalus
may develop secondary to occlusion of
the foramen magnum. Surgical techniques involving
lengthening of the bones of the extremities
can lead to an increase in body height of
about 20 to 25 cm.
Prognosis: Life expectancy in these children is
normal. Intelligence is not restricted. Neurological
complications, especially involving the cervical
spine, are common. In homozygous cases
(both parents affected), the outcome is fatal—
stillbirth or neonatal death resulting from hypoplasia
of the lungs.
References
Chitayat D, Fernandez B, Gardner A, et al. Compound
heterozygosity for the achondroplasia–hypochondroplasia
FGFR3 mutations: prenatal diagnosis and
postnatal outcome. Am J Med Genet 1999; 84: 401–5.
Amniotic Band Syndrome
Definition: Asymmetrical disruptive anomalies,
with amputated limbs and splitting defects such
as ventral wall defects. The cause is thought to be
amniotic bands resulting from premature rupture
of the amnion.
Incidence: One in 1300 births.
Gabrielli S, Falco P, Pilu G, Perolo A, Milano V, Bovicelli L.
Can transvaginal fetal biometry be considered a useful
tool for early detection of skeletal dysplasias in
high- risk patients? Ultrasound Obstet Gynecol
1999; 13: 107–11.
Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan
DT. Achondroplasia–hypochondroplasia complex in
a newborn infant. Am J Med Genet 1999; 84: 396–
400.
Kurtz AB, Filly RA, Wapner RJ, et al. In utero analysis of
heterozygous achondroplasia: variable time of onset
as detected by femur length measurements. J Ultrasound
Med 1986; 5: 137–40.
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Achondroplasia,
hypochondroplasia and thanatophoric
dysplasia: review and update [review]. Can Assoc
Radiol J 1999; 50: 185–97.
Mesoraca A, Pilu G, Perolo A, et al. Ultrasound and
molecular mid-trimester prenatal diagnosis of de
novo achondroplasia. Prenat Diagn 1996; 16: 764–8.
Modaff P, Horton VK, Pauli RM. Errors in the prenatal diagnosis
of children with achondroplasia. Prenat
Diagn 1996; 16: 525–30.
Moeglin D, Benoit B. Three-dimensional sonographic
aspects in the antenatal diagnosis of achondroplasia.
Ultrasound Obstet Gynecol 2001; 18: 81–3.
Schlotter CM, Pfeiffer RA. Prenatal ultrasonic diagnosis
of achondroplasia. Ultraschall Med 1985; 6: 229–32.
Sex ratio: M:F=1:1.
Clinical history/genetics: Occurrence mostly
sporadic. Rarely associated with congenital defects
of fibrous tissue development, as in Ehlers–
Danlos syndrome and epidermolysis bullosa.
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