ultrasound diagnosis of fatal anomalies

SKELETAL ANOMALIES
Teratogens: None are known with any certainty.
Smoking during pregnancy has been discussed
as a possible teratogen.
Prognosis: This depends on the severity of the
malformations.
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Pathogenesis: The extent of malformations depends
on the time at which the disturbances
occur. Thus, anencephaly, encephalocele, facial
clefts, abdominal wall defects and ectopia cordis
may result. Later disturbance causes amputation
of extremities and fusion of fingers, as in syndactyly.
Ultrasound findings: The findings are extremely
variable, affecting many fetal structures. In mild
forms, isolated fingers or toes may be missing.
Club feet and malposition of the hands may be
seen. Localized swellings of the distal parts of
the limbs have also been observed (“constriction
ring”). On scanning, amniotic bands can be detected
in the amniotic cavity. Amniotic bands
have to be differentiated from adhesions within
the uterine cavity, which may also have connections
to the amniotic cavity and are covered with
amnion and chorion. These are often a result of
curettage, but are not responsible for fetal malformations.
In addition to malformations of the
limbs, other severe defects are observed in amniotic
band syndrome: abdominal wall defects, encephalocele,
facial clefts, micrognathia, multiple
anomalies of body surface (limb–body stalk
anomaly, probably related in its pathogenesis to
amniotic band syndrome).
Differential diagnosis: Gastroschisis, chromosomal
aberrations, club feet, hypoplasia of femur,
subcutaneous lymphangioma, Proteus syndrome,
Klippel–Trenaunay–Weber syndrome,
neural tube defect, omphalocele, Beckwith–
Wiedemann syndrome, pentalogy of Cantrell.
Clinical management: Further ultrasound
screening, including fetal echocardiography and
karyotyping.
Arthrogryposis Multiplex Congenita
(Multiple Congenital Contractures)
Definition: This is a heterogeneous group of disorders
all of which have multiple joint contractures
present at birth. These may be caused by
connective-tissue, muscular, or neurological abnormalities.
References
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8.
Incidence: One in 3000–10 000 births.
Sex ratio: M:F=1:1.
Clinical history/genetics: Autosomal-dominant,
autosomal-recessive or X-linked inheritance
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