ultrasound diagnosis of fatal anomalies

3 Face and Neck
Facial Clefts (Cleft Lip and Cleft Palate)
Definition: Clefts are defects involving the upper
lip and/or the upper jaw and palate; most defects
are lateral; they are located medially in less
than 1%.
Incidence: One in 700–1000 for cleft lip and/or
cleft palate and jaw; one in 1000 for cleft palate
alone.
Sex ratio: M F.
Clinical history/genetics: Mostly sporadic, but
may occur often in families due to autosomaldominant,
recessive, and X-linked inheritance. If
one sibling is affected, the recurrence rate is 4%,
with two affected siblings it is 10%. If one parent
and one child have this condition, then the rate
of recurrence is 14%.
Teratogens: Alcohol, maternal phenylketonuria,
hyperthermia, hydantoin, aminopterin, methotrexate,
metronidazole, carbamazepine, cortisone,
radiation, valproic acid.
Embryology: Incomplete fusion of the frontonasal
process 5–6 weeks after conception. Unilateral
or bilateral defects are possible.
Associated malformations: If detected prenatally,
associated malformations are seen in almost
50%. Over 300 syndromes have been described
in association with facial clefts. If the defect
lies in the midline, neural tube defects are to
be expected, especially holoprosencephaly.
Associated syndromes: Van der Woude syndrome
seen in 2%, amnion band sequence, arthrogryposis,
chromosomal anomalies (especially
trisomy 13), holoprosencephaly,
Meckel–Gruber syndrome, MURCS association,
Nager syndrome, Pierre Robin sequence, Roberts
syndrome, short rib–polydactyly syndrome and
others.
Ultrasound findings: Clefting of the upper lip is
seen, and this can be followed up to the palate
and the jaw when these are affected. Hydramnios
may develop due to an inadequate swallowing
reflex. As the fusion of the maxillary bone is
completed at 17 weeks, detection of cleft lip may
Fig. 3.1 Cleft lip and palate. Frontal view of the
open mouth at 27 + 2 weeks. The continuity of the
upper lip is interrupted: one-sided cleft lip.
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