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ultrasound diagnosis of fatal anomalies

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APPENDIX

Cardiac

findings

Thoracoabdominal

anomalies

Urogenital

tract

Growth

restriction

Other

disorders

Prognosis

Short stature, normal intelligence

Renal anomalies

Growth restriction

Fatal; life expectancy of up to 3 years

Affected

females show

skin changes

Fatal in the neonatal stage; survivors

have small stature

VSD, ASD

Maldescended

testis, hypospadias

After 20 weeks

of gestation

Mild to moderate mental impairment,

growth restriction

Mostly normal mental development,

hearing loss and atrophy of optic nerve

possible

Echogenic

bowel, dilated

loops of bowel

and meconium

peritonitis (3rd

trimester)

Chronic disease progression; as yet no

effective therapy

1

Cardiac

anomaly

Rarely, fatal outcome in neonatal stage;

usually normal intelligence and life

expectancy

2

Cardiac

malformations

Megaureter,

ureterocele,

hydronephrosis,

renal aplasia,

genital anomalies

Occ. cryptorchism

Anomalies of teeth, eye problems;

intelligence usually normal

Infant mortality up to 50%, normal

intelligence; adult height 105–160 cm

3

4

Continue

5

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