1. Congenital Abnormalities By: Nicole Stevens

2. Congenital diaphragmatic hernia  15 – 25 cases occur each year in Victoria  More than 85% of case are now prenatally detected  Survival rate is approximately 50 – 60%  If there is a coexistent significant abnormality this drops to 10%  If there is an unexpected birth of a baby with CDH in a non-tertiary facility, get the most experienced clinicians available  Minimise mask ventilation; intubate if possible/required  Minimise PIP’s (try not exceed 25cm/H2O

3. Congenital diaphragmatic hernia  Saturations of 70 – 80% are adequate provided sufficient ventilatory support is provided to ensure adequate tidal volume The associated problems are commonly:  Pulmonary hypoplasia, worse on the ipsilateral side  Structural and functional lung immaturity  A reduction in pulmonary arteriolar cross sectional area  Muscular hyperplasia of remaining pulmonary arterioles  An association with other major anomalies (chromosomal and non-chromosomal) in up to 20% of cases

4. Congenital diaphragmatic hernia Pre natal care:  Refer for tertiary level ultrasound, if diagnosis confirmed, refer to multidisciplinary fetal diagnostic/management team  Establish what abnormalities are present  Conduct a fetal echocardiogram  Establish fetal karyotype (with consent)  Counsel parents on a description of the abnormalities, likely diagnoses, management, options and possible outcomes  Referral to paediatric thoracic surgeon  Repeat ultrasounds at 24, 30 & 34wks

5. Congenital diaphragmatic hernia Birthing aim:  Aim is to achieve a NVB, following spontaneous onset of labour at term  Women are encouraged to move to Melbourne at 35 – 36wks gestation if living more than 1 hour away  LUSCS without labour is not recommended unless there is a clear medical indication

6. Congenital diaphragmatic hernia Resuscitation:  Individualised depending on condition of the baby  Minimise mask ventilation  If intubation is required, be vigilant with depth of insertion and avoiding being in too far and going down right main bronchus  Use volume guarantee if available  Insert a large bore NGT as soon as possible and keep the stomach deflated  Preductal saturation monitoring

7. Congenital diaphragmatic hernia Stabilisation:  Achieve acceptable gas exchange  Target saturations > 75%  PCO2 at a level that allows the pH to be >7.20 whlie minimising the chances of inducing lung injury of air leak  Apply a transcutaneous pCO2 monitor (if available)  Continue to monitor pre ductal saturations  Consult with PIPER  If available use a synchronised mode of ventilation

8. Congenital diaphragmatic hernia Ongoing stabilisation:  Gain venous access, UV preferable  Check BP, determine need for volume  Obtain a CXR  Obtain an arterial blood gas  Establish arterial access, UA or peripheral  Sedate and muscle relax if baby is in poor condition despite attempts at optimising ventilation  Consider surfactant, but some babies with CDH tolerate this poorly

9. Congenital diaphragmatic hernia

10. Continuing management:  Will need a team of neonatologists, paediatric surgeons & paediatric intensivists involved  Ensure continuous monitoring of transcutaneous pCO2, tidal and minute volumes  Maintain lowest FiO2 that results in preductal SaO2 > 85%, especially in initial hours of care  Assessment of other anomalies (cardiac, renal, brain, karyotyping)  An ongoing metabolic acidosis requiring repeated large doses of base suggests myocardial ischaemia, sepsis or strangulated bowel

11. Congenital diaphragmatic hernia Principles of management & escalation:  Use of muscle relaxants and sedatives  SIMV/AC with tidal volume monitoring  HFOV +/- nitric oxide if unsatisfactory gas exchange on conventional, or if there is need for high inspiratory pressures or FiO2  Jet ventilation if there is overt gas trapping or air leak  ECMO - < 10% of babies need this

12. Congenital diaphragmatic hernia  Surgery will be done after ventilatory and circulatory support weaned to satisfactory levels (eg. FiO2 < 0.4 and MAP < 14)  Transfer to level 2 unit considered after full enteral nutrition established for at least 1 week; and respiratory status indicates significant reserve  Audiology will need to be arranged prior to discharge  Long term follow up will be required

13. Oesophageal atresia & tracheo oesophageal fistula in neonates  TOF is an abnormal connection between the trachea and oesophagus  OA is where the oesophagus develops in 2 separate parts  Causes are unknown  Early diagnosis is important to minimise pulmonary complications  Regular suction of oesophageal pouch is required prior to surgical repair

14. Oesophageal atresia & tracheo oesophageal fistula in neonates

15.  The incidence of OA is approximately 1 in 3000 to 4500 births  More likely to be premature because of the association with polyhydramnios  In the most common variant of the disorder (approximately 86% of cases), the upper oesophageal segment ends in a blind pouch with a fistula connecting the distal oesophageal segment to the trachea, at or close to the carina.

16. Oesophageal atresia & tracheo oesophageal fistula in neonates Clinical signs:  Excessive oral secretions, choking and vomiting with feeding  Abdominal distension (due to air transmitted through the distal fistula)  Aspiration of secretions from the upper pouch and reflux of acidic gastric contents via the fistula to the lungs may all contribute to respiratory compromise  The infant with the H-type TOF may present insidiously but usually coughs and chokes with feeding.

17. Oesophageal atresia & tracheo oesophageal fistula in neonates Associations: V vertebral defects A anal (inperforate anus) C cardiac (VSD most common) T tracheal E ‘esophagus’ R renal anomalies L limb deformities

18. Oesophageal atresia & tracheo oesophageal fistula in neonates Associations: C coloboma H heart disease (congenital) A atresia (choanal) R retardation (growth and mental) G genital hypoplasia E ear anomalies

19. Oesophageal atresia & tracheo oesophageal fistula in neonates Diagnosis:  May be suggested antentally by polyhydramnios, or failure to see the fetal stomach  At birth attempt to pass a firm suction catheter of feeding tube (size 10F if possible)  Inability to pass into stomach will confirm OA (tubes often halt at about 9 – 13cm)  Soft tubes may curl and come back  CXR with tube insitu will assist diagnosis  If an OA is confirmed and there is air in the bowel this suggest the presence of a TOF  If a H-TOF is suspected this is usually revealed by a contrast swallow  Need to do a cardiac echo to confirm position of the aortic arch  Renal ultrasound should be done if baby is anuric

20. Oesophageal atresia & tracheo oesophageal fistula in neonates Associations:  Chromosomal abnormalities (trisomy 13, 18, 21)  DiGeorge syndrome  Neurological defects  Gastrointestinal defects  Pulmonary defects  Genitalia defects

21. Oesophageal atresia & tracheo oesophageal fistula in neonates Management:  If suspected antenatally baby should be delivered close to a tertiary surgical neonatal unit  Keep NBM, commence on IV fluids  Nurse supine with head elevated (30 – 60 degrees)  Keep upper pouch clear of secretrions (suction 15 minutely). A replogle tube may be positioned 0.5cm above the end of the oesphageal pouch and placed on continuous low pressure suction  Consider antibiotics (? Aspiration pnuemonia)  Transfer to tertiary facility  Requires team consisting of: surgeon, respiratory physician, physio, dietician, speech therapist.

22. Gastroschisis  Diagnosis often, but not always, made by antenatal ultrasound  Babies should be born at a tertiary centre  The abdominal defect should be covered with cling wrap, taking care to prevent kinking or trauma to the bowel  Pay careful attention to thermoregulation and fluid management  If born at a non-tertiary facility, refer early to PIPER and arranged transfer to a surgical facility (RCH or MMC)

23. Gastroschisis

25.  Small defect in the anterior abdominal wall to the right of the umbilicus through which the bowel herniates  Routine maternal serum screening will show an elevated alpha-feto protein level  Incidence is 1:10,000 – 30,000 births  Increased incidence in adolescent mothers  More frequent in males  There is no covering sac, the surface of the bowel is usually oedematous and matted due to prolonged exposure to amniotic fluid  Outcome is usually determined by the amount of damage to the bowel inutero  Associated anomalies in 15% of cases  Prematurity and growth restriction common  NEC and malabsorption may occur  Survival rate is about 90%

26. Exomphalos  Protusion of intestinal contents through the abdominal wall at the umbilicus  Occurs in 2.5:10,000 births  Contents are covered by a thin membrane of amnion and peritoneum  Herniation of the liver may also happen if the sac is large  There may be associated anomalies (eg. Trisomies, cardiac defects, GI and renal anomalies)  Survival rates are mainly dependent on whether other anomalies are present

27. Exomphalos

28. Can also be associated with:  Beckwith-Wiedermann syndrome (macroglossia, pathognomonic horizontal ear crease and hypoglycaemia) Management:  Wrap abdomen and exposed organs in cling film (use sterile latex free gloves; cling film doesn’t have to be sterile)  Preferable to nurse on right side  Check bowel for signs of impaired blood supply (ie. Looks purple of black). Try gentle manipulation of the bowel into other positions to see if circulation can be improved  Do not use cotton wool or moist packs (cotton can stick to the bowel and moist packs become cold and increase risk of hypothermia)

29. Exomphalos  Pass size 8 NGT, leave on free drainage and aspirate every 60mins (record colour and volume)  Make NBM, insert IV, commence on usual day 1 fluid volumes  Monitor blood pressure closely  Check BGL asap and monitor closely  Monitor temperature frequently  Contact PIPER to arrange transfer  Collect bloods for FBE, electrolytes, culture, group and hold for cross match and CRP and commence antibiotics (Penicillin and gentamycin)

30. References  www.health.vic,gov,au/neonatal handbook www.health.vic,gov,au/neonatal  Avery, G.B., Fletcher, M.A., and MacDonald, M.G. (editors). Neonatology: Pathophysiology and Management of the Newborn. 5th edition. Lippincott, Williams & Wilkins. 1999.  Levene, M.I., Tudehope, D.I., and Thearle, M.J. Essentials of Neonatal Medicine. 3rd edition. Blackwell Science. 2000.  Hutson, J.M., Woodward, A.A., Beasley, S.W. (editors). Jones’ Clinical Paediatric Surgery, Diagnosis and management. 5th edition.  1.Morreau, P. (2005). Abdominal wall defects. Newborn service clinical guideline  2.Hutson,J (2008). Jones Clinical Paediatric Surgery diagnosis & management. United States: Blackwell publishing.