Congenital AbnormalitiesBy: Nicole Stevens

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

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

Congenital diaphragmatic herniaPre 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

Congenital diaphragmatic herniaBirthing 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

Congenital diaphragmatic herniaResuscitation: 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

Congenital diaphragmatic herniaStabilisation: 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

Congenital diaphragmatic herniaOngoing 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

Congenital diaphragmatic hernia

Congenital diaphragmatic herniaContinuing 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

Congenital diaphragmatic herniaPrinciples 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

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

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

Oesophageal atresia & tracheo oesophageal fistula in neonates

Oesophageal atresia & tracheo oesophageal fistula in neonates 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.

Oesophageal atresia & tracheo oesophageal fistula in neonatesClinical 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.

Oesophageal atresia & tracheo oesophageal fistula in neonatesAssociations:V vertebral defectsA anal (inperforate anus)C cardiac (VSD most common)T tracheal E ‘esophagus’R renal anomaliesL limb deformities

Oesophageal atresia & tracheo oesophageal fistula in neonatesAssociations:C colobomaH heart disease (congenital)A atresia (choanal)R retardation (growth and mental)G genital hypoplasiaE ear anomalies

Oesophageal atresia & tracheo oesophageal fistula in neonatesDiagnosis: 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

Oesophageal atresia & tracheo oesophageal fistula in neonatesAssociations: Chromosomal abnormalities (trisomy 13,

18, 21) DiGeorge syndrome Neurological defects Gastrointestinal defects Pulmonary defects Genitalia defects

Oesophageal atresia & tracheo oesophageal fistula in neonatesManagement: 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.

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)

Gastroschisis

Gastroschisis

Gastroschisis 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%

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

Exomphalos

ExomphalosCan 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)

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)

References www.health.vic,gov,au/neonatal handbook 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.