Neonatal Pathway

Neonatal Pathway

The first 24-48 hours

Confirming the Diagnosis

  • Chromosomal analysis: Lithium Heparin sample (1-2mls) for rapid Fluorescence in situ hybridization (FISH) and karyotyping to Great Ormond Street Hospital before 12pm. If collected overnight or after 12pm the sample can be refrigerated and sent the following day.  All antenatal (and postnatal) diagnoses requires repeat genetic testing after birth.

  • An EDTA bottle for a microarray should also be considered if the diagnosis is unclear but there is a suspicion of an underlying genetic condition.

  • FBC and blood film to be tested for in the first 2-3 days of life due to risk of polycythaemia, thrombocytopaenia and TAM.  Request for the blood film to be reported by a Haematologist experienced at reviewing neonatal blood films.

  • TSH as part of Guthrie card - Do not perform routine TFTs unless there is a clinical suspicion of thyroid disease. There is a surge of TSH after birth resulting in a higher concentration of T4 for the 1st week of life.

Communication:

  • Deliver diagnosis of DS early if there is a high suspicion or confirmed postnatal diagnosis of DS.

  • Diagnosis should be delivered early by an experienced professional.

  • Give out appropriate leaflets and signpost to the Down Syndrome Association (DSA) website. Leaflets from the DSA include, ‘Congratulations on the birth of your baby’ and ‘Down Syndrome: A leaflet for family and friends’.

The Neonatal Infant Physical Examination (NIPE) to be completed within 72 hours of birth.

  • Performed by the neonatal team if there is a suspicion or confirmed diagnosis of DS.

  • Aimed at diagnosing any associated complications

  • Findings should prompt appropriate referrals and should be documented on the NIPE SMART system and discharge summary.

  • Documentation should include the following:

  • Passage of meconium within 24 hours of life and presence of an anal opening (Hirschsprung’s Disease and bowel atresias).

  • Presence or absence of cataracts.

  • Description of feeding including the type, frequency, volume, timing and quality of the suck. Clearly note the absence of coughing/ spluttering/ choking/ gurgling and cyanosis during feeding.

  • Presence or absence of a heart murmur including pre and post ductal saturations, a 4-limb BP and ECG (or preferentially echocardiogram if available before discharge).

Period of observation: 

All babies with a suspected or confirmed diagnosis should be monitored for jaundice, poor feeding and other associated complications for a minimum of 48 hours after birth. Individualised Care Rooms on the neonatal unit should be made available to all babies with DS and their mothers or fathers, enabling them to stay together whilst enabling full assessment/observation by the neonatal nurses.  Barnet hospital is unique in having this kind of facility and the use of these rooms for neonates with DS has been agreed by the neonatal team.  These rooms are available for mother and baby, once the mother is well enough to be discharged by the midwifery team.  Community neonatal nurses to see all babies with DS, whether they are admitted or not. 

Indications for admission to the neonatal unit include:

  • Poor feeding requiring observation or nasogastric supplementation

  • Oxygen requirement associated with underlying Congenital Heart Disease (CHD), Pulmonary Vascular disease (PVD) or respiratory pathology.

  • Concerns regarding an underlying surgical pathology (bowel atresia, Hirschsprung’s disease) e.g. bilious vomiting or failure to pass meconium.

  • Polycythaemia requiring a dilutional exchange transfusion.