GI congenital anomalies requiring surgery: Dx, counselling and management 2023 TOG

Question 1

What proportion of babies born with congenital anomaly
1) Wordwide
2) UK

Answer 1

1) 6%
2) 2.6%

Question 2

What proportion of anomalies are GI?

Answer 2

10%

Question 3

What are the commest GI anomaly?

Answer 3

Anterior abdominal wall defects - Gastrochisis & Omphalocele

Question 4

Accuracy of Dx anterior abdominal wall defect
1) at 11-13+6 weeks
2) 18-21 FASP

Answer 4

1) 90%
2) 98%

Question 5

In UK what proportion of Dx antenatally
1) Anterior abdominal wall defect
2) Other GI anomalies

Answer 5

1) Anterior abdominal wall defect 96%
2) Other GI anomalies 36%

Question 6

Describe omphalocele
What proportion include liver

Answer 6

Central, through umbilicus, perineal covering
Can include small bowel & liver (50%)

Question 7

In omphalocele how common are
1) Other congenital abnormality

2) Genetic associated

Answer 7

1) 75%
Most common congenital heart defects

2) 30% - T 13/18, Beckwith-wiedermann syndrome
- More common if smaller omphalocele without liver herniation

Question 8

omphalocele/gastrochisis are associated with what biomarker?

Answer 8

Raised AFP

Question 9

Mortality rates of omphalocele

Answer 9

1) 10%

If other associated anomaly - 40%

Question 10

Explain gastrochisis

Answer 10

Paraumblical defect, mostly R side, no peritoneal covering

Small bowl often herniated, rare - stomach, liver or spleen

Risk volvulus, atresia and necrosis

Question 11

With gastrochisis how common are

1) Other anomalies
2) Genetic abnormality

Answer 11

1) Less common 14%, CNS most common
2) Rare to have genetic abnormality

Question 12

How common is Oligohydramnios in gastrochisis?

Answer 12

25%

Question 13

Prognosis gastrochisis

Answer 13

1) 5% still birth < 35/40
2) Overall survival >90%

PN complication - sepsis, NEC, short bowel syndrome, bowel obstruction/volvulus

• Smaller defect size and FGR associated with adverse outcomes

Question 14

Explain atresia

Answer 14

Can occur anywhere in GI tract, can be partial or complete

Question 15

How commonly is atresia associated with
1) Other congenital abnormlirt
2) Genetic abnormality

Answer 15

1) 70% - CHD, annular pancreatitis other GI
2) 1/3 - aneuploidy T21

Question 16

AN Dx atresia

Answer 16

60% AN Dx
Mostly in 2nd/3rd trimester ‘double bubble sign’

Question 17

Mortality from atresia

Answer 17

<10%

Question 18

Further investigations recommended in GI abnormality

Answer 18

Serial growth USS - Risk SGA

For omphalocele and duodenal atresia - invasive Tx due to genetic risk

Question 19

Delivery

Answer 19

Tertiary paediatric unit
If uncomplicated - can have VD

ELCS does not influence outcomes for anterior abdominal wall defect

37-38 weeks

Neonatologist at delivery

Omphalacela - BM - associated Beckwith Wiedemann Sx

Question 20

If Omphacele >5cm risk of need invasive respiratory support

Answer 20

> 50%

Question 21

How to manage gastroschisi at delivery

Answer 21

(Same also if omphalocele periotnuem ruptures)

• Lower half of infant in gastroschisis bad/wrapped in clingfilm + ABx + fluid rhesus

10% risk atresia

Question 22

How to manage small interstingal atresia after delivery

Answer 22

Abdo XRAY within 2 hours
- If double bubble not seen, air injected into NG tube and reXRAY

If confirmed - operation

Question 23

When can offer TOP for GI anormalities?

Answer 23

Up to 24 weeks unless associated underling condition