KEY FACTS
Imaging
- •
Multiple causes; can be isolated or syndromic
- •
Autosomal recessive polycystic kidney disease is single gene disorder
- ○
Large, diffusely hyperechoic kidneys most common
- ○
May see discrete cysts or areas of tubular ectasia
- ○
Sometimes just echogenic medullary pyramids
- ○
- •
Obstructive cystic dysplasia
- ○
Microscopic cysts develop due to chronic obstruction
- ○
Multiple interfaces → increased echogenicity
- ○
Macroscopic cortical cysts usually present
- ○
- •
Trisomy 13
- ○
Echogenic kidneys seen in 50%
- ○
Look for holoprosencephaly, cyclopia, proboscis, midline facial cleft, polydactyly, congenital heart disease
- ○
Early-onset fetal growth restriction
- ○
- •
Meckel-Gruber syndrome
- ○
Triad of findings: 2 needed to make diagnosis
- –
Renal cystic dysplasia in > 90%
- –
Encephalocele in 60-80%
- –
Polydactyly in 55-75%
- –
- ○
Scanning Tips
- •
Echogenic kidneys are brighter than liver
- •
Use high-resolution transducer to look for subtle cystic change/tubular ectasia
- •
Use vaginal transducer for better resolution in 1st trimester or with breech presentation
- •
If fluid is low, verify that membrane rupture has been ruled out: Relative contraindication to transvaginal ultrasound (TVUS) due to risk of introducing infection
- •
Look for other anomalies, more likely syndromal diagnosis
- •
Oligohydramnios may cause pulmonary hypoplasia
- ○
Measure chest:heart ratios to document small chest size
- ○
Normally, heart circumference is 1/2 of chest; heart area is 1/3 of chest
- ○