Congenital Urogenital Abnormalities

Question 1

When do the kidneys develop?

Answer 1

Between 5th and 12th week

By 13th produce urine

Question 2

Renal Agenesis Prevalence

Answer 2

1:2000 - unilateral
1:5000 - bilateral

Question 3

Renal Agensis (unilateral) USS features

Answer 3

1. Unilateral - non visualisation 1 kidney
2. normal bladder/ amniotic fluid
3. colour Doppler = 1 renal artery
4. compensatory hypertrophy of contralateral kidney

Question 4

Renal Agensis (bilateral) USS features

Answer 4

1. Non visualisation of both kidneys and bladder
   @ >17 weeks
2. Renal artery not seen on colour Doppler
3. Adrenal glands = discoid shape, move laterally and inferiorly

May also be
Small fetal chest
Cardiac hypertrophy
Talipes

Question 5

Renal Agenesis - Pathophysiology

Answer 5

Normally isolated/ sporadic

Failure of ureteric bud to fuse with mesonephric

Question 6

Renal Agenesis - Chromosomal Defects

Answer 6

1-2% - associated chromosomal defects (mostly Trisomy 18)

Question 7

Renal Agenesis - Associated Genetic Syndromes

Answer 7

Found in up to 10% of cases
Most common = Fraser syndrome

Question 8

Fraser Syndrome

Answer 8

Autosomal recessive

Renal Agenesis
Laryngeal Atresia
Cryptophthalmos
Syndactyly
VACTERL association (Vertebral and ventricular septal defects, anal atresia, tracheo-oesophageal fistula, renal abnormalities, radial dysplasia, single umbilical artery)

Question 9

VACTERL association

Answer 9

Vertebral and ventricular septal defects, anal atresia, tracheo-oesophageal fistula, renal abnormalities, radial dysplasia, single umbilical artery

Question 10

Unilateral Renal Agenesis Management

Answer 10

Refer to FMU
Detailed USS

Unilateral + associated abnormalities =
offer invasive testing

Isolated unilateral renal agenesis = standard antenatal/ intrapartum care with good prognosis

Question 11

Renal Agenesis in Female Infants

Answer 11

Postnatal pelvic USS to look for abnormalities in Mullerian structures

Question 12

Bilateral Renal Agenesis Management

Answer 12

Lethal condition (usually in PN period due to pulmonary hypoplasia)

Invasive testing not normally offered

Continue pregnancy + palliative care planning, OR termination

Question 13

Renal Agenesis Recurrence

Answer 13

3% in non syndromes mic cases

Unilateral - in 15% parent has unilateral renal agenesis (increased risk of recurrence)

Question 14

Autosomal Dominant PKD

Answer 14

1:1000 people are gene carriers

Question 15

Autosomal Dominant PKD clinical onset

Answer 15

30-50 years

Question 16

Autosomal Dominant PKD - antenatal detection

Answer 16

Enlarged hyperechogenic kidneys (smaller than in autosomal recessive disease)
Renal pelvis seen
Bladder and amniotic fluid normal

Note normal fetal USS appearance does not exclude developing PKD in later life

Question 16

AD PKD - associated abnormalities

Answer 16

No increase risk chromosomal abnormalities

Maybbe a/w pancreatic, hepatic and ovarian cysts

Question 17

AD PKD - gene mutation

Answer 17

85% = PKD1 Gene on Chromosome 16

15% = PKD2 gene on chromosome 4

Question 17

AD PKD - prenatal diagnosis

Answer 17

CVS in first trimester

Question 18

AD PKD - management

Answer 18

4 weekly USS to assess amniotic fluid volume

Intrapartum care is standard

Question 19

AD PKD risk of recurrence

Answer 19

50% as AD

Question 20

Autosomal Recessive PKD - prevalence

Answer 20

1:30,0000 births

Question 21

Autosomal Recessive PKD - Types

Answer 21

Perinatal - lethal due to pulmonary hypoplasia

Neonatal

Infantile + Juvenile - chronic renal failure, hepatic fibrosis, portal HTN (may survive into teens and require transplant)

Question 22

Autosomal Recessive PKD - USS features

Answer 22

Bilaterally enlarged hyperechoic kidneys

Usually found at > 24 weeks gestation

Renal pelvis not visualised
Gradual onset polyhydramnios

Question 23

Autosomal Recessive PKD - Associated syndromes

Answer 23

Incidence of chromosomal abnormalities and genetic syndromes not increased

Associated cystic fibrosis of liver (appears normal on USS) - more sever renal disease = less severe hepatic fibrosis

Question 24

AR PKD - gene mutation

Answer 24

PKHD 1 gene on Chromosome 6

Question 25

AR PKD - prenatal testing

Answer 25

CVS in 1st trimester
Reliable in 80% of affected families

Question 25

AR PKD - monitoring

Answer 25

USS every 4 weeks to monitor fluid

Question 26

AR PKD - delivery

Answer 26

Hospital with NICU
Offer IOL around 38 weeks

Question 27

AR PKD - risk of recurrence

Answer 27

25% as AR