ultrasound diagnosis of fatal anomalies

CHROMOSOMAL DISORDERS
Fig. 9.77 Turner syndrome. Facial profile at
21+5weeksshowing edema in the region of the
forehead.
Fig. 9.78 Turner syndrome. Edema at the back of
thefootat21+5weeks.
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aortic isthmus stenosis and persistent ductus
arteriosus, to avoid administration of a high percentage
of oxygen. If generalized fetal hydrops is
present, intrauterine fetal death is the usual outcome.
An isolated finding of cystic hygroma colli
may regress spontaneously in the course of the
pregnancy. Cardiac anomalies present a higher
risk for the newborn. Intensive care of the infant
and cardiac surgery reduce the mortality rate
considerably. In the absence of mosaicism, the
affected individual has reduced growth and is infertile
(gonadal dysgenesis). Hearing impairment
is detected in 50% of children. Administration
of hormones is necessary at puberty for
further development. The affected individual is
usually of normal intelligence.
Information for the mother: All cases are
sporadic, without exception. The risk of recurrence
is not increased. The development of affected
children depends on the medical care
they receive (cardiac defect, growth, hormone
substitution). Self-help organizations may give
useful hints.
Self-Help Organizations
Title: Turner Syndrome Society of the United
States
Description: Self-help for women, girls, and
their families affected by Turner’s syndrome.
Increases public awareness about the disorder.
Quarterly newsletter, chapter development
assistance, annual conference.
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