ultrasound diagnosis of fatal anomalies

TRISOMY 13
Fig. 9.16 Trisomy 13. Bilateral clefts of the lip and
the palate seen at 12+1weeksinafetuswithtranslocation
trisomy 13.
Differential diagnosis: Meckel–Gruber syndrome,
and many other syndromes, depending
on the pattern of malformations.
Clinical management: Karyotyping, as well as
further ultrasound screening, including fetal
echocardiography. If the mother decides to carry
on with the pregnancy, obstetric intervention on
the basis of fetal indications (especially cesarean
section)is not justified.
Procedure after birth: Generally, intensive
medical measures should not be taken. The pediatrician
present at birth should be informed in
advance of the anomalies that are to be expected.
Prognosis: In most cases of trisomy 13, the outcome
is fatal in the early neonatal stage; survivors
show severe mental impairment. Fifty
percent are stillborn or die within the first
6 months of life; 85% have died by the end of the
first year of life.
Information for the mother: If both parents have
a normal set of chromosomes, then the risk of recurrence
lies 1% above that for the maternal age.
Karyotyping in early pregnancy (chorionic villus
sampling at 11–12 weeks of gestation)allows exclusion
of this chromosomal disorder in the following
pregnancy.
Self-Help Organization
Title: SOFT: Support Organization for Trisomy
Description: Support and education for families
of children with trisomy 18 and 13 and related
genetic disorders. Education for professionals.
Bimonthly newsletter. Pen-pal
program, phone network. Regional gatherings.
Annual international conference, booklets.
Fig. 9.17 Trisomy 13. Finding after termination of
pregnancy (courtesy of Prof. Vogel).
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