ultrasound diagnosis of fatal anomalies

APPENDIX
Cardiac
findings
Thoracoabdominal
anomalies
Urogenital
tract
Growth
restriction
Other
disorders
Prognosis
Occasionally
anomalies of
the navel
Cryptorchism,
penis surrounded
by
folds of scrotal
tissue
Short stature,
usually first evident
after birth,
long torso
Favorable; short stature; occasionally
mild mental impairment
Occ. VSD
Growth restriction
Anemia due to
reduced erythropoiesis
in
bone marrow
Favorable; occ. mild mental impairment
Fatal (pulmonary hypoplasia)
Fatal only in homozygous disease.
Otherwise normal mental development
and life expectancy, short stature up to
140 cm
In girls. ambiguous
genitalia at
birth
In two-thirds, salt depletion syndrome;
fatal without therapy, favorable if
treated adequately
Cardiomegaly,
pericardial
effusion
Hepatosplenomegaly,
pleural effusion
Hb Bart fatal; others courses range
from asymptomatic to severe hemolytic
anemia
Gastroschisis,
omphalocele
Depends on the severity of malformations
1
Occ. cystic
kidneys, hydronephrosis,
cryptorchism
Variable; high mortality in the first
years of life, sometimes mental impairment
2
Occ. renal
anomalies
Very variable, ranging from fatal forms
to those with minimal handicap and
normal life expectancy
Usually fatal; after improvement of
pulmonary damage, renal failure and
small stature in survivors
Continue
3
4
5
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